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2024-03-30 00:34:26, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_031483               6412 bp    mRNA    linear   PRI 20-APR-2013
DEFINITION  Homo sapiens itchy E3 ubiquitin protein ligase (ITCH), transcript
            variant 2, mRNA.
ACCESSION   NM_031483
VERSION     NM_031483.5  GI:380420336
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6412)
  AUTHORS   Sellebjerg,F., Krakauer,M., Khademi,M., Olsson,T. and Sorensen,P.S.
  TITLE     FOXP3, CBLB and ITCH gene expression and cytotoxic T lymphocyte
            antigen 4 expression on CD4(+) CD25(high) T cells in multiple
            sclerosis
  JOURNAL   Clin. Exp. Immunol. 170 (2), 149-155 (2012)
   PUBMED   23039885
  REMARK    GeneRIF: FOXP3 mRNA expression correlated with CBLB and ITCH in MS
            patients.
REFERENCE   2  (bases 1 to 6412)
  AUTHORS   Bellomaria,A., Barbato,G., Melino,G., Paci,M. and Melino,S.
  TITLE     Recognition mechanism of p63 by the E3 ligase Itch: novel strategy
            in the study and inhibition of this interaction
  JOURNAL   Cell Cycle 11 (19), 3638-3648 (2012)
   PUBMED   22935697
  REMARK    GeneRIF: The interaction of Itch-WW2 domain with p63, was
            investigated.
            Erratum:[Cell Cycle. 2013 Feb 15;12(4):705]
REFERENCE   3  (bases 1 to 6412)
  AUTHORS   Wei,W., Li,M., Wang,J., Nie,F. and Li,L.
  TITLE     The E3 ubiquitin ligase ITCH negatively regulates canonical Wnt
            signaling by targeting dishevelled protein
  JOURNAL   Mol. Cell. Biol. 32 (19), 3903-3912 (2012)
   PUBMED   22826439
  REMARK    GeneRIF: Overexpression of ITCH inhibited wild-type DVL2 -induced,
            but not DVL2-Y568F mutant-induced, Wnt reporter activity.
REFERENCE   4  (bases 1 to 6412)
  AUTHORS   Wang,C., An,J., Zhang,P., Xu,C., Gao,K., Wu,D., Wang,D., Yu,H.,
            Liu,J.O. and Yu,L.
  TITLE     The Nedd4-like ubiquitin E3 ligases target angiomotin/p130 to
            ubiquitin-dependent degradation
  JOURNAL   Biochem. J. 444 (2), 279-289 (2012)
   PUBMED   22385262
  REMARK    GeneRIF: Knockdown of Nedd4, Nedd4-2 and Itch causes an
            accumulation of steady-state level of AMOT/p130.
REFERENCE   5  (bases 1 to 6412)
  AUTHORS   Lohr,N.J., Molleston,J.P., Strauss,K.A., Torres-Martinez,W.,
            Sherman,E.A., Squires,R.H., Rider,N.L., Chikwava,K.R.,
            Cummings,O.W., Morton,D.H. and Puffenberger,E.G.
  TITLE     Human ITCH E3 ubiquitin ligase deficiency causes syndromic
            multisystem autoimmune disease
  JOURNAL   Am. J. Hum. Genet. 86 (3), 447-453 (2010)
   PUBMED   20170897
  REMARK    GeneRIF: describe, in ten patients, identification of a mutation
            resulting in truncation of ITCH. These patients not only have
            multisystem autoimmune disease but also display morphologic and
            developmental abnormalities.
REFERENCE   6  (bases 1 to 6412)
  AUTHORS   Chen,X., Wen,S., Fukuda,M.N., Gavva,N.R., Hsu,D., Akama,T.O.,
            Yang-Feng,T. and Shen,C.K.
  TITLE     Human ITCH is a coregulator of the hematopoietic transcription
            factor NF-E2
  JOURNAL   Genomics 73 (2), 238-241 (2001)
   PUBMED   11318614
  REMARK    GeneRIF: gene expression regulation; coregulates hematopoietic
            transcription factor NF-E2
REFERENCE   7  (bases 1 to 6412)
  AUTHORS   Qiu,L., Joazeiro,C., Fang,N., Wang,H.Y., Elly,C., Altman,Y.,
            Fang,D., Hunter,T. and Liu,Y.C.
  TITLE     Recognition and ubiquitination of Notch by Itch, a hect-type E3
            ubiquitin ligase
  JOURNAL   J. Biol. Chem. 275 (46), 35734-35737 (2000)
   PUBMED   10940313
REFERENCE   8  (bases 1 to 6412)
  AUTHORS   Winberg,G., Matskova,L., Chen,F., Plant,P., Rotin,D., Gish,G.,
            Ingham,R., Ernberg,I. and Pawson,T.
  TITLE     Latent membrane protein 2A of Epstein-Barr virus binds WW domain E3
            protein-ubiquitin ligases that ubiquitinate B-cell tyrosine kinases
  JOURNAL   Mol. Cell. Biol. 20 (22), 8526-8535 (2000)
   PUBMED   11046148
REFERENCE   9  (bases 1 to 6412)
  AUTHORS   Wood,J.D., Yuan,J., Margolis,R.L., Colomer,V., Duan,K., Kushi,J.,
            Kaminsky,Z., Kleiderlein,J.J., Sharp,A.H. and Ross,C.A.
  TITLE     Atrophin-1, the DRPLA gene product, interacts with two families of
            WW domain-containing proteins
  JOURNAL   Mol. Cell. Neurosci. 11 (3), 149-160 (1998)
   PUBMED   9647693
REFERENCE   10 (bases 1 to 6412)
  AUTHORS   Perry,W.L., Hustad,C.M., Swing,D.A., O'Sullivan,T.N., Jenkins,N.A.
            and Copeland,N.G.
  TITLE     The itchy locus encodes a novel ubiquitin protein ligase that is
            disrupted in a18H mice
  JOURNAL   Nat. Genet. 18 (2), 143-146 (1998)
   PUBMED   9462742
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356299.16, AL705688.1,
            AK315212.1, AL109923.29 and AA730741.1.
            On Mar 15, 2012 this sequence version replaced gi:169658379.
            
            Summary: This gene encodes a member of the Nedd4 family of HECT
            domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases
            transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein
            substrates, thus targeting specific proteins for lysosomal
            degradation. The encoded protein plays a role in multiple cellular
            processes including erythroid and lymphoid cell differentiation and
            the regulation of immune responses. Mutations in this gene are a
            cause of syndromic multisystem autoimmune disease. Alternatively
            spliced transcript variants encoding multiple isoforms have been
            observed for this gene. [provided by RefSeq, Mar 2012].
            
            Transcript Variant: This variant (2) lacks an exon in the 5' coding
            region, but maintains the reading frame, compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB056663.2, AK315212.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025082 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AL356299.16        92612-92651
            41-132              AL705688.1         42-133
            133-2802            AK315212.1         92-2761
            2803-6152           AL109923.29        84937-88286
            6153-6412           AA730741.1         7-266
FEATURES             Location/Qualifiers
     source          1..6412
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..6412
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="itchy E3 ubiquitin protein ligase"
                     /db_xref="GeneID:83737"
                     /db_xref="HGNC:13890"
                     /db_xref="MIM:606409"
     exon            1..115
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     exon            116..192
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       132
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3746455"
     variation       138
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:6059784"
     variation       151
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143842156"
     variation       154
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:6059785"
     variation       163
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112587100"
     misc_feature    181..183
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="upstream in-frame stop codon"
     exon            193..283
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     CDS             214..2802
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     atrophin-1 interacting protein 4; NFE2-associated
                     polypeptide 1; dJ468O1.1 (atrophin 1 interacting protein 4
                     (AIP4)); itchy E3 ubiquitin protein ligase homolog"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase Itchy homolog
                     isoform 2"
                     /protein_id="NP_113671.3"
                     /db_xref="GI:27477109"
                     /db_xref="CCDS:CCDS13234.1"
                     /db_xref="GeneID:83737"
                     /db_xref="HGNC:13890"
                     /db_xref="MIM:606409"
                     /translation="
MSDSGSQLGSMGSLTMKSQLQITVISAKLKENKKNWFGPSPYVEVTVDGQSKKTEKCNNTNSPKWKQPLTVIVTPVSKLHFRVWSHQTLKSDVLLGTAALDIYETLKSNNMKLEEVVVTLQLGGDKEPTETIGDLSICLDGLQLESEVVTNGETTCSESASQNDDGSRSKDETRVSTNGSDDPEDAGAGENRRVSGNNSPSLSNGGFKPSRPPRPSRPPPPTPRRPASVNGSPSATSESDGSSTGSLPPTNTNTNTSEGATSGLIIPLTISGGSGPRPLNPVTQAPLPPGWEQRVDQHGRVYYVDHVEKRTTWDRPEPLPPGWERRVDNMGRIYYVDHFTRTTTWQRPTLESVRNYEQWQLQRSQLQGAMQQFNQRFIYGNQDLFATSQSKEFDPLGPLPPGWEKRTDSNGRVYFVNHNTRITQWEDPRSQGQLNEKPLPEGWEMRFTVDGIPYFVDHNRRTTTYIDPRTGKSALDNGPQIAYVRDFKAKVQYFRFWCQQLAMPQHIKITVTRKTLFEDSFQQIMSFSPQDLRRRLWVIFPGEEGLDYGGVAREWFFLLSHEVLNPMYCLFEYAGKDNYCLQINPASYINPDHLKYFRFIGRFIAMALFHGKFIDTGFSLPFYKRILNKPVGLKDLESIDPEFYNSLIWVKENNIEECDLEMYFSVDKEILGEIKSHDLKPNGGNILVTEENKEEYIRMVAEWRLSRGVEEQTQAFFEGFNEILPQQYLQYFDAKELEVLLCGMQEIDLNDWQRHAIYRHYARTSKQIMWFWQFVKEIDNEKRMRLLQFVTGTCRLPVGGFADLMGSNGPQKFCIEKVGKENWLPRSHTCFNRLDLPPYKSYEQLKEKLLFAIEETEGFGQE
"
     misc_feature    262..633
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="C2 domain present in E3 ubiquitin ligase; Region:
                     C2_E3_ubiquitin_ligase; cd04021"
                     /db_xref="CDD:175988"
     misc_feature    1075..1167
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; Region: WW; cd00201"
                     /db_xref="CDD:29258"
     misc_feature    order(1117..1119,1150..1152)
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="binding pocket"
                     /db_xref="CDD:29258"
     misc_feature    1171..1260
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; Region: WW; cd00201"
                     /db_xref="CDD:29258"
     misc_feature    order(1213..1215,1246..1248)
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="binding pocket"
                     /db_xref="CDD:29258"
     misc_feature    1411..1500
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; Region: WW; cd00201"
                     /db_xref="CDD:29258"
     misc_feature    order(1453..1455,1486..1488)
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="binding pocket"
                     /db_xref="CDD:29258"
     misc_feature    1531..1620
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="Two conserved tryptophans domain; also known as the
                     WWP or rsp5 domain; around 40 amino acids; functions as an
                     interaction module in a diverse set of signalling
                     proteins; binds specific proline-rich sequences but at low
                     affinities compared to other...; Region: WW; cd00201"
                     /db_xref="CDD:29258"
     misc_feature    order(1573..1575,1606..1608)
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="binding pocket"
                     /db_xref="CDD:29258"
     misc_feature    1732..2793
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="HECT domain; C-terminal catalytic domain of a
                     subclass of Ubiquitin-protein ligase (E3). It binds
                     specific ubiquitin-conjugating enzymes (E2), accepts
                     ubiquitin from E2, transfers ubiquitin to substrate lysine
                     side chains, and transfers additional...; Region: HECTc;
                     cd00078"
                     /db_xref="CDD:28959"
     misc_feature    order(1750..1752,1840..1842,1873..1875,2056..2058,
                     2578..2580,2683..2688,2695..2709,2767..2769,2788..2790)
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="catalytic cleft [active]"
                     /db_xref="CDD:28959"
     misc_feature    1804..2790
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="Domain Homologous to E6-AP Carboxyl Terminus with;
                     Region: HECTc; smart00119"
                     /db_xref="CDD:197523"
     misc_feature    order(2140..2142,2149..2154,2158..2163,2170..2172,
                     2191..2193,2197..2199,2209..2214,2218..2220,2233..2235,
                     2248..2250,2299..2301,2311..2313)
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /note="E2 interaction site; other site"
                     /db_xref="CDD:28959"
     variation       236
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:11552867"
     variation       259
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377431173"
     exon            284..425
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       296
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373940007"
     variation       330
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368044001"
     variation       354
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199513051"
     variation       366
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141446117"
     variation       386
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144293716"
     variation       387
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370090459"
     exon            426..550
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       459
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:3761146"
     variation       510
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:137925915"
     variation       542
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201149238"
     variation       549
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140692208"
     variation       550
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199947085"
     exon            551..688
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       598
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183893157"
     variation       604
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150122428"
     variation       621
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373829127"
     variation       622
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138451400"
     variation       637
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188736253"
     variation       646
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:202036043"
     variation       680
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149625278"
     exon            689..734
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       708
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373751787"
     variation       734
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112357913"
     exon            735..892
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       754
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200506310"
     variation       779
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:368544131"
     variation       787
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:200246240"
     variation       871
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:371486505"
     variation       883
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200896809"
     exon            893..1082
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       902
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371132495"
     variation       912
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200651161"
     variation       929
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:145113977"
     variation       940
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372508275"
     variation       956
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368353835"
     variation       957
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375751829"
     variation       959
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370394645"
     variation       1041
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373885533"
     variation       1055
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200085579"
     exon            1083..1178
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1101
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370665674"
     variation       1130
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201610952"
     variation       1155
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138920167"
     exon            1179..1353
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1202
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375212186"
     variation       1204
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368511233"
     variation       1227
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142268366"
     variation       1245
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201221876"
     variation       1260
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367592506"
     variation       1287
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371860516"
     variation       1298
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146383612"
     variation       1320
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:148516658"
     exon            1354..1423
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1359
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141828786"
     variation       1406
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146021135"
     exon            1424..1508
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1458
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368866673"
     variation       1459
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373086001"
     variation       1481
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1052275"
     exon            1509..1637
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1510
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372589721"
     variation       1524
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:76412574"
     variation       1546
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150653226"
     variation       1587
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:75849635"
     variation       1618
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201066823"
     exon            1638..1710
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1665
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:139765100"
     variation       1686
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149786961"
     exon            1711..1782
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1756
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201871783"
     variation       1762
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200841333"
     variation       1774
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200239748"
     variation       1775
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199703668"
     exon            1783..1871
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1803
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373876115"
     exon            1872..2031
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       1890
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199629170"
     variation       1891
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113468730"
     variation       1968
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373626080"
     variation       1977
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147824534"
     variation       2026
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:80241710"
     exon            2032..2165
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       2057
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:7268389"
     variation       2061
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374135990"
     variation       2128
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139633287"
     exon            2166..2306
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       2193
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147636046"
     variation       2253
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149046008"
     variation       2295
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377380158"
     variation       2306
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:6059862"
     exon            2307..2427
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       2367
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143022837"
     variation       2382
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371043535"
     exon            2428..2532
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       2484
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:56366303"
     exon            2533..2629
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       2596
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368005062"
     exon            2630..2702
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       2634
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112607958"
     variation       2656
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374226560"
     exon            2703..6401
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /inference="alignment:Splign:1.39.8"
     variation       2718
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140201242"
     variation       2724
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:145318917"
     variation       2793
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:4911428"
     variation       2807
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:368637997"
     variation       2821
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:41290892"
     variation       2841
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200138554"
     variation       2846
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376617291"
     variation       2948
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77883048"
     variation       2977
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190970171"
     variation       3094
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:6088512"
     variation       3172
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:372058359"
     variation       3302
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375005789"
     variation       3373
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:182746652"
     STS             3374..3537
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /standard_name="A007H06"
                     /db_xref="UniSTS:32777"
     variation       3421
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:186405217"
     variation       3474
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376694648"
     variation       3514
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:141320183"
     variation       3619
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:191310394"
     variation       3628
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:183046054"
     variation       3642
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145451437"
     variation       3658
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:34832553"
     variation       3692
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:187379795"
     variation       3706
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:6119502"
     variation       3770
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114102657"
     variation       3838
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:6142187"
     variation       3859..3860
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace=""
                     /replace="ta"
                     /db_xref="dbSNP:373695855"
     variation       3870
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:6059886"
     variation       3884
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138059778"
     variation       3959
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:78110206"
     variation       4011
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190591565"
     variation       4039
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:149513459"
     variation       4143
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:41290894"
     variation       4165
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372868851"
     variation       4256..4257
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:34533763"
     variation       4276
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:35568544"
     variation       4393
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:7509362"
     variation       4657
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:188957568"
     variation       4761
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192446602"
     variation       4828..4829
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:34285280"
     variation       4921..4922
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:11167237"
     variation       4977
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184323628"
     variation       5256
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113307527"
     variation       5286
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188075885"
     variation       5297
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139117456"
     variation       5311
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149905261"
     variation       5364
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1569927"
     variation       5378
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:6058068"
     STS             5394..5997
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /standard_name="ITCH_3687"
                     /db_xref="UniSTS:462281"
     variation       5447..5451
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace=""
                     /replace="gttaa"
                     /db_xref="dbSNP:367900721"
     variation       5452..5453
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace=""
                     /replace="tt"
                     /db_xref="dbSNP:10598635"
     variation       5452
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:1569928"
     variation       5463
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace=""
                     /replace="tt"
                     /db_xref="dbSNP:11468815"
     variation       5478
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace=""
                     /replace="ttt"
                     /db_xref="dbSNP:59923096"
     variation       5691
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:71349764"
     variation       5717
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:71349765"
     variation       5789
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112533205"
     variation       5926
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:191499961"
     variation       5936
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148618095"
     variation       6008
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184374823"
     variation       6021
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376212023"
     variation       6058
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:189101223"
     variation       6089
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:181549465"
     variation       6349
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148273189"
     polyA_signal    6380..6385
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
     variation       6390
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185667767"
     polyA_site      6401
                     /gene="ITCH"
                     /gene_synonym="AIF4; AIP4; dJ468O1.1; NAPP1"
ORIGIN      
gcgctcaggcgcctgcgctttagctgctaactcgctctagtagctgtggtcggggctcgggaccggctgccatcttagtctagggactgaggagtcgccgccgccccgagtcccggtaccatgcatttcacggtggccttgtggagacaacgccttaacccaaggaagtgactcaaactgtgagaacttcaggttttccaacctattggtggtatgtctgacagtggatcacaacttggttcaatgggtagcctcaccatgaaatcacagcttcagatcactgtcatctcagcaaaacttaaggaaaataagaagaattggtttggaccaagtccttacgtagaggtcacagtagatggacagtcaaagaagacagaaaaatgcaacaacacaaacagtcccaagtggaagcaaccccttacagttatcgttacccctgtgagtaaattacattttcgtgtgtggagtcaccagacactgaaatctgatgttttgttgggaactgctgcattagatatttatgaaacattaaagtcaaacaatatgaaacttgaagaagtagttgtgactttgcagcttggaggtgacaaagagccaacagagacaataggagacttgtcaatttgtcttgatgggctacagttagagtctgaagttgttaccaatggtgaaactacatgttcagaaagtgcttctcagaatgatgatggctccagatccaaggatgaaacaagagtgagcacaaatggatcagatgaccctgaagatgcaggagctggtgaaaataggagagtcagtgggaataattctccatcactctcaaatggtggttttaaaccttctagacctccaagaccttcacgaccaccaccacccaccccacgtagaccagcatctgtcaatggttcaccatctgccacttctgaaagtgatgggtctagtacaggctctctgccgccgacaaatacaaatacaaatacatctgaaggagcaacatctggattaataattcctcttactatatctggaggctcaggccctaggccattaaatcctgtaactcaagctcccttgccacctggttgggagcagagagtggaccagcacgggcgagtttactatgtagatcatgttgagaaaagaacaacatgggatagaccagaacctctacctcctggctgggaacggcgggttgacaacatgggacgtatttattatgttgaccatttcacaagaacaacaacgtggcagaggccaacactggaatccgtccggaactatgaacaatggcagctacagcgtagtcagcttcaaggagcaatgcagcagtttaaccagagattcatttatgggaatcaagatttatttgctacatcacaaagtaaagaatttgatcctcttggtccattgccacctggatgggagaagagaacagacagcaatggcagagtatatttcgtcaaccacaacacacgaattacacaatgggaagaccccagaagtcaaggtcaattaaatgaaaagcccttacctgaaggttgggaaatgagattcacagtggatggaattccatattttgtggaccacaatagaagaactaccacctatatagatccccgcacaggaaaatctgccctagacaatggacctcagatagcctatgttcgggacttcaaagcaaaggttcagtatttccggttctggtgtcagcaactggccatgccacagcacataaagattacagtgacaagaaaaacattgtttgaggattcctttcaacagataatgagcttcagtccccaagatctgcgaagacgtttgtgggtgatttttccaggagaagaaggtttagattatggaggtgtagcaagagaatggttctttcttttgtcacatgaagtgttgaacccaatgtattgcctgtttgaatatgcagggaaggataactactgcttgcagataaaccccgcttcttacatcaatccagatcacctgaaatattttcgttttattggcagatttattgccatggctctgttccatgggaaattcatagacacgggtttttctttaccattctataagcgtatcttgaacaaaccagttggactcaaggatttagaatctattgatccagaattttacaattctctcatctgggttaaggaaaacaatattgaggaatgtgatttggaaatgtacttctccgttgacaaagaaattctaggtgaaattaagagtcatgatctgaaacctaatggtggcaatattcttgtaacagaagaaaataaagaggaatacatcagaatggtagctgagtggaggttgtctcgaggtgttgaagaacagacacaagctttctttgaaggctttaatgaaattcttccccagcaatatttgcaatactttgatgcaaaggaattagaggtccttttatgtggaatgcaagagattgatttgaatgactggcaaagacatgccatctaccgtcattatgcaaggaccagcaaacaaatcatgtggttttggcagtttgttaaagaaattgataatgagaagagaatgagacttctgcagtttgttactggaacctgccgattgccagtaggaggatttgctgatctcatggggagcaatggaccacagaaattctgcattgaaaaagttgggaaagaaaattggctacccagaagtcatacctgttttaatcgcctggacctgccaccatacaagagctatgagcaactgaaggaaaagctgttgtttgccatagaagaaacagaaggatttggacaagagtaacttctgagaacttgcaccatgaatgggcaagaacttatttgcaatgtttgtccttctctgcctgttgcacatcttgtaaaattggacaatggctctttagagagttatctgagtgtaagtaaattaatgttctcatttagatttatctcccagtgatttctactcagcgtttccagaaatcaggtctgcaaatgactagtcagaaccttgcttaacatgagattttaacacaacaatgaaatttgccttgtcttattccactagtttattcctttaacaacaatattttatgtgtgtcaaaagtctcacttgggagtagtgtttttttcttttagacattctgcagacatgcagggaagtcctttggtaactgcaatatacaagattttcctattaagcctcttggtaagaggcatttgttaaaagtgcaagcttactcctgcttctggggatgtgagcaaaattcgggcttgtgttctccctctcattttagtctgacttgactattgtttttcctttctggcgcatgaatccatacatcattcctggaagtgaggcaagactcttgcatctctacaaagtagttttgtcaatttgaattcagggaaaagttggtcacagcctgcaaatgacttcatttggaagtctgattgtttcagttgcctgacaaatactacactttacaaacaatgttaacactgtgattccttcattgttttaagaagttaacctagggccgggcatggtggctcatacctgtaatcctagcactctgggaggccgaggcaggaggatccctttagcccaggagttaaagaccagcctgggcaacatagggagaccctgtcttttttttgggcagcgtggtgggggataaataaataaaaggaaaaaaaacttagcctagaattagaattaatttaattgaattcatctaaagatgtctctggtgatttttatatgttccgctatataattgatgctttatagttttatcataatccaacaacttcagttatatttaattattgttaaggagtttaagactagaaagactagagtgctttctagtccaaatagaggtcagtgaaacagcttttgacatcagattttcatttgagagggagagctgtggtactggctaaaaagaaaggaagataacatccagtaaccacaggaatatattctctgtgaattaaaagtcttcaaagttatcatttctctgacatatgttggagtagtcatttccattctttacattgtcatgaactggattgataaccctcatctgcaatattttcacccctaaaatttttaacagggtttcctttttttctcacgactatttaagtttagattgctccattattaactgattaatgcactttgaagttctctggaattaattattttaacttggcctagcttcgactgtcaaggtggctgttataaatttgacttcattggcagtggatgaagcctaagccagctgagtctctatcatagctgaaccctgaggacagcctcatagctcatgtatcagggacttttgccacatttcagaggcatagcatgaacaagtaatattaagccaagaataagcagcagaaccctgttccatatggaaaaaagaaaaacaattttttgtccctaatgttcttccttttacatcctggaacaacaataaaaacatttttttaaacttgtctactgtaagatactgccatcataaagcagagacttacatgagtgaaagggttgcctcatcaagcagctcagtgtaaatggggaggctaggctctccccagccctatggtttttttatttcatgtaccccaggaaatactgtgtggtttctaaaagccctggttgttaaaagtagggactctgcctttttgttggtagggagaaaaaacgctattgctttgtcttacagagcgaatgtctgccaactacccgttcattatataagtctgaacttggtaatatatggctaatgaagattaagccctctataaagacttcctgttgaggtgaattctcatactgaaatgtagttacctacaatatttactagagatttatgaaattaaattaagagataatgtaagaaaatacatttttttggttctatataatgcttcatgattcatttagggacctagaaatattgtgtgaaaatatataaatatcacccaaaaggctttctgccctatatttttaaaatacagaatagttatatttgaagtagccctggccctagttctatagggcttggctatttaatatttttatggaagaagtgtttagttctggaaaaggtaaatgcttgtatatatttttgcagcctgggatctccctactccattttttcctttaatttaagtggccacatgtatatgtcttccctgctgtgttaggaaaatgggggctggatatcccaagaatcagaggttatataaaaatactgcaaatagaccgcagacataaatatctaccaaatgctatcttaaattttggtccaaactgaacatatggaaatagatttattgtaagtatttacttagagctttttcttaaatctgaactaacttgcttttagaagtctttttctttgtaagcattgtaaatgctaataaatcctgttaatttttttttttttttttttttttttttactgcatgttacattgaaataaaaacaaagtaaaatgagcaattgccttattgttctgctcttttgcagggggtgggggttggggaagacagcattccacagcctggtcaggagggaaggacctcacttgtttcatcaaatggagtggtttaaaactgatcaagcagctcataataatgaattcctgctctgtcttttattatcttatgtcagagtgcagcaaaatctcatttcataagacttacaataactctatttaaaattcaggtattgtactcgggaggctgaggtgggaggatcccaggagttcaaatcctgcctgggcaacatagcaagaccctgtctcttaaaaaaacaaaaagacatattcaggtactgatttttcatcaagagattgacataccaatgatcagaaattttagtgaaacttgactcaactatacacaaagttctcatcctaaatgaactatttcagtcaagcccactctaccactttttacttatctggttaataatccgaaatgttaccggggttgactcacggaattaaatttttcctctatttttatatcctttcctgttgtggatgtaacttacctttctaaactcctttagagttaacgacttctatttagtattgttggtatctccagcccccctcctttttttgtttttcttttagttatttactttgtttgtataatttgctttcattaactaaaaatggaattggcagcactggattgtatattactgtattaagagtacctttgttttcttgatctgttacttttaatactcaggtaatgctacaaatattacagggagtcaaatgcttttataaagttccttcagtggttgcctcacttgcgttttcctacaagatgtaagactgtttataattaaacttttttggtccttcaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:83737 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: IDA
            GeneID:83737 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: NAS
            GeneID:83737 -> Molecular function: GO:0004842 [ubiquitin-protein ligase activity] evidence: TAS
            GeneID:83737 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:83737 -> Molecular function: GO:0043021 [ribonucleoprotein complex binding] evidence: IPI
            GeneID:83737 -> Molecular function: GO:0045236 [CXCR chemokine receptor binding] evidence: IPI
            GeneID:83737 -> Biological process: GO:0001558 [regulation of cell growth] evidence: NAS
            GeneID:83737 -> Biological process: GO:0002669 [positive regulation of T cell anergy] evidence: IEA
            GeneID:83737 -> Biological process: GO:0006511 [ubiquitin-dependent protein catabolic process] evidence: IDA
            GeneID:83737 -> Biological process: GO:0006511 [ubiquitin-dependent protein catabolic process] evidence: NAS
            GeneID:83737 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
            GeneID:83737 -> Biological process: GO:0006954 [inflammatory response] evidence: NAS
            GeneID:83737 -> Biological process: GO:0007219 [Notch signaling pathway] evidence: TAS
            GeneID:83737 -> Biological process: GO:0016567 [protein ubiquitination] evidence: IDA
            GeneID:83737 -> Biological process: GO:0032088 [negative regulation of NF-kappaB transcription factor activity] evidence: ISS
            GeneID:83737 -> Biological process: GO:0032480 [negative regulation of type I interferon production] evidence: TAS
            GeneID:83737 -> Biological process: GO:0035519 [protein K29-linked ubiquitination] evidence: IDA
            GeneID:83737 -> Biological process: GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] evidence: TAS
            GeneID:83737 -> Biological process: GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] evidence: IBA
            GeneID:83737 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IMP
            GeneID:83737 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
            GeneID:83737 -> Biological process: GO:0045732 [positive regulation of protein catabolic process] evidence: IEA
            GeneID:83737 -> Biological process: GO:0046329 [negative regulation of JNK cascade] evidence: ISS
            GeneID:83737 -> Biological process: GO:0046642 [negative regulation of alpha-beta T cell proliferation] evidence: IEA
            GeneID:83737 -> Biological process: GO:0046718 [viral entry into host cell] evidence: TAS
            GeneID:83737 -> Biological process: GO:0050687 [negative regulation of defense response to virus] evidence: IMP
            GeneID:83737 -> Biological process: GO:0051607 [defense response to virus] evidence: IEA
            GeneID:83737 -> Biological process: GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway] evidence: TAS
            GeneID:83737 -> Biological process: GO:0070534 [protein K63-linked ubiquitination] evidence: IDA
            GeneID:83737 -> Biological process: GO:0070936 [protein K48-linked ubiquitination] evidence: IDA
            GeneID:83737 -> Biological process: GO:0090085 [regulation of protein deubiquitination] evidence: ISS
            GeneID:83737 -> Cellular component: GO:0005634 [nucleus] evidence: IBA
            GeneID:83737 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
            GeneID:83737 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
            GeneID:83737 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
            GeneID:83737 -> Cellular component: GO:0005938 [cell cortex] evidence: IEA
            GeneID:83737 -> Cellular component: GO:0031410 [cytoplasmic vesicle] evidence: IEA

by @meso_cacase at DBCLS
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