GGRNA Home | Help | Advanced search

2024-03-30 00:12:21, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001005389            2527 bp    mRNA    linear   PRI 07-JUL-2013
DEFINITION  Homo sapiens neurofascin (NFASC), transcript variant 5, mRNA.
ACCESSION   NM_001005389 XM_046808
VERSION     NM_001005389.1  GI:53729315
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 2527)
  AUTHORS   Shaffer,J.R., Feingold,E., Wang,X., Lee,M., Tcuenco,K., Weeks,D.E.,
            Weyant,R.J., Crout,R., McNeil,D.W. and Marazita,M.L.
  TITLE     GWAS of dental caries patterns in the permanent dentition
  JOURNAL   J. Dent. Res. 92 (1), 38-44 (2013)
   PUBMED   23064961
REFERENCE   2  (bases 1 to 2527)
  AUTHORS   Sistani,L., Rodriguez,P.Q., Hultenby,K., Uhlen,M., Betsholtz,C.,
            Jalanko,H., Tryggvason,K., Wernerson,A. and Patrakka,J.
  TITLE     Neuronal proteins are novel components of podocyte major processes
            and their expression in glomerular crescents supports their role in
            crescent formation
  JOURNAL   Kidney Int. 83 (1), 63-71 (2013)
   PUBMED   22913984
  REMARK    GeneRIF: Three neuronal proteins (Huntingtin interacting protein 1,
            neurofascin, and olfactomedin-like 2a) are novel components of
            podocyte major processes and their expression in glomerular
            crescents supports their role in crescent formation.
REFERENCE   3  (bases 1 to 2527)
  AUTHORS   Buttermore,E.D., Piochon,C., Wallace,M.L., Philpot,B.D., Hansel,C.
            and Bhat,M.A.
  TITLE     Pinceau organization in the cerebellum requires distinct functions
            of neurofascin in Purkinje and basket neurons during postnatal
            development
  JOURNAL   J. Neurosci. 32 (14), 4724-4742 (2012)
   PUBMED   22492029
  REMARK    GeneRIF: Cerebellar pinceau organization requires coordinated
            mechanisms involving specific neurofascin functions in both
            Purkinje and basket neurons.
REFERENCE   4  (bases 1 to 2527)
  AUTHORS   Devaux,J.J., Odaka,M. and Yuki,N.
  TITLE     Nodal proteins are target antigens in Guillain-Barre syndrome
  JOURNAL   J. Peripher. Nerv. Syst. 17 (1), 62-71 (2012)
   PUBMED   22462667
  REMARK    GeneRIF: gliomedin, NF186, and contactin are novel target antigens
            in Guillain-Barre syndrome
REFERENCE   5  (bases 1 to 2527)
  AUTHORS   Tuvia,S., Garver,T.D. and Bennett,V.
  TITLE     The phosphorylation state of the FIGQY tyrosine of neurofascin
            determines ankyrin-binding activity and patterns of cell
            segregation
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 94 (24), 12957-12962 (1997)
   PUBMED   9371782
REFERENCE   6  (bases 1 to 2527)
  AUTHORS   Davis,J.Q., Lambert,S. and Bennett,V.
  TITLE     Molecular composition of the node of Ranvier: identification of
            ankyrin-binding cell adhesion molecules neurofascin (mucin+/third
            FNIII domain-) and NrCAM at nodal axon segments
  JOURNAL   J. Cell Biol. 135 (5), 1355-1367 (1996)
   PUBMED   8947556
REFERENCE   7  (bases 1 to 2527)
  AUTHORS   Volkmer,H., Leuschner,R., Zacharias,U. and Rathjen,F.G.
  TITLE     Neurofascin induces neurites by heterophilic interactions with
            axonal NrCAM while NrCAM requires F11 on the axonal surface to
            extend neurites
  JOURNAL   J. Cell Biol. 135 (4), 1059-1069 (1996)
   PUBMED   8922386
REFERENCE   8  (bases 1 to 2527)
  AUTHORS   Hortsch,M.
  TITLE     The L1 family of neural cell adhesion molecules: old proteins
            performing new tricks
  JOURNAL   Neuron 17 (4), 587-593 (1996)
   PUBMED   8893017
  REMARK    Review article
REFERENCE   9  (bases 1 to 2527)
  AUTHORS   Burmeister,M., Ren,Q., Makris,G.J., Samson,D. and Bennett,V.
  TITLE     Genes for the neuronal immunoglobulin domain cell adhesion
            molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12
            and homologous human chromosomes
  JOURNAL   Mamm. Genome 7 (7), 558-559 (1996)
   PUBMED   8672144
REFERENCE   10 (bases 1 to 2527)
  AUTHORS   Volkmer,H., Hassel,B., Wolff,J.M., Frank,R. and Rathjen,F.G.
  TITLE     Structure of the axonal surface recognition molecule neurofascin
            and its relationship to a neural subgroup of the immunoglobulin
            superfamily
  JOURNAL   J. Cell Biol. 118 (1), 149-161 (1992)
   PUBMED   1377696
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC040674.1, AK090639.1 and
            AA514945.1.
            
            Summary: This gene encodes an L1 family immunoglobulin cell
            adhesion molecule with multiple IGcam and fibronectin domains. The
            protein functions in neurite outgrowth, neurite fasciculation, and
            organization of the axon initial segment (AIS) and nodes of Ranvier
            on axons during early development. Both the AIS and nodes of
            Ranvier contain high densities of voltage-gated Na+ (Nav) channels
            which are clustered by interactions with cytoskeletal and
            scaffolding proteins including this protein, gliomedin, ankyrin 3
            (ankyrin-G), and betaIV spectrin. This protein links the AIS
            extracellular matrix to the intracellular cytoskeleton. This gene
            undergoes extensive alternative splicing, and the full-length
            nature of some variants has not been determined.[provided by
            RefSeq, May 2009].
            
            Transcript Variant: This variant (5) uses an alternate 3' coding
            region and 3' UTR, compared to variant 1. The resulting isoform (5)
            has a substantially shorter and distinct C-terminus that lacks the
            fibronectin domains, compared to isoform 1.
            
            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 :: AK090639.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025086, ERS025088 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-41                BC040674.1         6-46
            42-2503             AK090639.1         1-2462
            2504-2527           AA514945.1         1-24                c
FEATURES             Location/Qualifiers
     source          1..2527
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..2527
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="neurofascin"
                     /db_xref="GeneID:23114"
                     /db_xref="HGNC:29866"
                     /db_xref="MIM:609145"
     exon            1..129
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     exon            130..238
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       145
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184776653"
     variation       195
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:142757146"
     variation       217
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:12128657"
     exon            239..419
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       243
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:79130984"
     variation       282
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368003381"
     variation       307
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201417276"
     variation       310
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:372878722"
     CDS             329..2188
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5; neurofascin homolog"
                     /codon_start=1
                     /product="neurofascin isoform 5 precursor"
                     /protein_id="NP_001005389.2"
                     /db_xref="GI:237858680"
                     /db_xref="CCDS:CCDS53461.1"
                     /db_xref="GeneID:23114"
                     /db_xref="HGNC:29866"
                     /db_xref="MIM:609145"
                     /translation="
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNILIECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFARNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSMEPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVAERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKALRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRANGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLANAFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHVYENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQLECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQDLAKAYLTVLGNCPCSPWH
"
     sig_peptide     329..400
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="COORDINATES: ab initio prediction:SignalP:4.0"
     mat_peptide     401..2185
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /product="neurofascin isoform 5"
     misc_feature    449..736
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Immunoglobulin I-set domain; Region: I-set;
                     pfam07679"
                     /db_xref="CDD:191810"
     misc_feature    503..733
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Sixth immunoglobulin (Ig)-like domain of human
                     neurofascin (NF); Region: Ig6_hNeurofascin_like; cd05875"
                     /db_xref="CDD:143283"
     misc_feature    746..1024
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Immunoglobulin domain; Region: Ig; cl11960"
                     /db_xref="CDD:213125"
     misc_feature    1109..1327
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Immunoglobulin I-set domain; Region: I-set;
                     pfam07679"
                     /db_xref="CDD:191810"
     misc_feature    1118..1330
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Third immunoglobulin (Ig)-like domain of the L1
                     cell adhesion molecule (CAM); Region: Ig3_L1-CAM_like;
                     cd05731"
                     /db_xref="CDD:143208"
     misc_feature    1337..1603
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Immunoglobulin I-set domain; Region: I-set;
                     pfam07679"
                     /db_xref="CDD:191810"
     misc_feature    1379..1606
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Fourth immunoglobulin (Ig)-like domain of L1,
                     Ng-CAM (Neuron-glia CAM cell adhesion molecule), and NrCAM
                     (Ng-CAM-related); Region: Ig4_L1-NrCAM_like; cd04978"
                     /db_xref="CDD:143179"
     misc_feature    1673..1852
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Immunoglobulin C-2 Type; Region: IGc2; smart00408"
                     /db_xref="CDD:197706"
     misc_feature    1910..2155
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Immunoglobulin I-set domain; Region: I-set;
                     pfam07679"
                     /db_xref="CDD:191810"
     misc_feature    1910..2155
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /note="Immunoglobulin; Region: IG; smart00409"
                     /db_xref="CDD:197707"
     variation       345
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147777257"
     variation       349
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149873707"
     variation       350
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375852982"
     variation       367
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149111254"
     variation       394
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138639366"
     variation       395
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145678100"
     variation       419
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375813060"
     exon            420..437
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       432
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142497407"
     variation       437
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375286397"
     exon            438..543
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       442
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111823167"
     variation       448
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141859066"
     variation       461
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138945016"
     variation       485
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188580609"
     exon            544..740
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       580
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375752918"
     variation       594
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144793383"
     variation       619
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:139082842"
     variation       623
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:145530574"
     variation       634
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:147387188"
     variation       646
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142536240"
     variation       654
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149736553"
     variation       655
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202239718"
     variation       699
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374043011"
     variation       706
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140357522"
     variation       717
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376957828"
     variation       725
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145437187"
     variation       733
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370974341"
     exon            741..863
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       760
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200777181"
     variation       778
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149151832"
     variation       793
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148289271"
     variation       794
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138530492"
     variation       804
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3795564"
     variation       823
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:77635708"
     variation       841
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:202108157"
     exon            864..1034
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       879
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199573837"
     variation       880
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148604570"
     variation       891
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374498456"
     variation       910
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368438179"
     variation       931
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371908973"
     variation       955
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374961734"
     variation       973
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:200301998"
     variation       991
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61741836"
     variation       995
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142051080"
     variation       1010
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199838875"
     exon            1035..1146
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       1053
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:374629132"
     variation       1054
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199749786"
     variation       1086
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368489529"
     variation       1087
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:190388030"
     variation       1136
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371635013"
     variation       1141
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140997318"
     exon            1147..1331
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       1151
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145749720"
     variation       1164
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148937906"
     variation       1203..1204
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:5780257"
     variation       1227
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201375081"
     variation       1232
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144049714"
     variation       1237
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146782515"
     variation       1256
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150544095"
     variation       1305
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376800898"
     variation       1311
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139508953"
     variation       1312
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369720213"
     variation       1317
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201302248"
     exon            1332..1463
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       1351
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:6690894"
     variation       1385
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144130749"
     variation       1386
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372412019"
     variation       1410
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192722996"
     exon            1464..1607
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       1465
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148671147"
     variation       1515
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374469419"
     variation       1588
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61743235"
     exon            1608..1719
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       1614
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367856348"
     variation       1615
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147657218"
     variation       1634
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146896570"
     variation       1658
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:138932973"
     variation       1663
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147248519"
     variation       1672
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140756489"
     variation       1673
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184631101"
     variation       1694
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:74923443"
     exon            1720..1886
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       1720
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146893759"
     variation       1739
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146186869"
     variation       1744
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137866492"
     variation       1769
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370227820"
     variation       1777
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202095107"
     variation       1779
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188695414"
     variation       1784
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368738014"
     variation       1806
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372885367"
     variation       1837
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:16854838"
     variation       1860
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374505792"
     variation       1865
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371915587"
     variation       1871
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149731085"
     variation       1882
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2246662"
     exon            1887..2034
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       1890
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199525304"
     variation       1904
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377722677"
     variation       1905
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184503324"
     variation       1912
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374003117"
     variation       1913
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202070693"
     variation       1920
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147673215"
     variation       1922
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371036080"
     variation       1929
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:56223230"
     variation       1942
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:55969362"
     variation       1962
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:202061387"
     variation       1968
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374030108"
     variation       1970
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377578078"
     variation       1975
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370657324"
     variation       1985
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138252161"
     variation       1989
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373916599"
     variation       1990
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200842368"
     variation       2016
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137927139"
     variation       2020
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143870626"
     variation       2024
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:55778126"
     exon            2035..2510
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /inference="alignment:Splign:1.39.8"
     variation       2050
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:55726173"
     variation       2057
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:186193782"
     variation       2107
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:17415240"
     variation       2117
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371450457"
     variation       2153
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113197466"
     variation       2170
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:6657372"
     variation       2210
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199553059"
     variation       2229
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368097776"
     variation       2278
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:77159058"
     variation       2343
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:150050660"
     variation       2389
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:189303311"
     variation       2434..2435
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:35570217"
     polyA_signal    2485..2490
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
     polyA_site      2510
                     /gene="NFASC"
                     /gene_synonym="NF; NRCAML"
ORIGIN      
gcacgggctggtctctgccctaatgcggcggctggcggcgagaggcgctgcaggggacgcgggggaagtggcggcgccggcagcggacagctcggacagcgcccagggccggagcccgagcccttggaggttgattgacttatgtgcaatttgggacgctggagtttaccttccctccgcagcctggaacagagcctcctctggtgttgcaaggaagaggctgaatgaggcagagaagctgagtgctgtccaggaggcccagttaaagcggctcgaggtgacaagaccccgagtgctggggagcagggagcagggccaggtgccgaggatggccaggcagccaccgccgccctgggtccatgcagccttcctcctctgcctcctcagtcttggcggagccatcgaaattcctatggatccaagcattcagaatgagctgacgcagccgccaaccatcaccaagcagtcagcgaaggatcacatcgtggacccccgtgataacatcctgattgagtgtgaagcaaaagggaaccctgcccccagcttccactggacacgaaacagcagattcttcaacatcgccaaggacccccgggtgtccatgaggaggaggtctgggaccctggtgattgacttccgcagtggcgggcggccggaggaatatgagggggaatatcagtgcttcgcccgcaacaaatttggcacggccctgtccaataggatccgcctgcaggtgtctaaatctcctctgtggcccaaggaaaacctagaccctgtcgtggtccaagagggcgctcctttgacgctccagtgcaaccccccgcctggacttccatccccggtcatcttctggatgagcagctccatggagcccatcacccaagacaaacgtgtctctcagggccataacggagacctatacttctccaacgtgatgctgcaggacatgcagaccgactacagttgtaacgcccgcttccacttcacccacaccatccagcagaagaaccctttcaccctcaaggtcctcaccacccgaggagttgcagaaagaacaccaagcttcatgtatccccagggcaccgcgagcagccagatggtgcttcgtggcatggacctcctgctggaatgcatcgcctccggggtcccaacaccagacatcgcatggtacaagaaaggtggggacctcccatctgataaggccaagtttgagaactttaataaggccctgcgtatcacaaatgtctctgaggaagactccggggagtatttctgcctggcctccaacaagatgggcagcatccggcacacgatctcggtgagagtaaaggctgctccctactggctggacgaacccaagaaccttattctggctcctggcgaggatgggagactggtgtgtcgagccaatggaaaccccaaacccactgtccagtggatggtgaatggggaacctttgcaatcggcaccacctaacccaaaccgtgaggtggccggagacaccatcatcttccgggacacccagatcagcagcagggctgtgtaccagtgcaacacctccaacgagcatggctacctgctggccaacgcctttgtcagtgtgctggatgtgccgcctcggatgctgtcgccccggaaccagctcattcgagtgattctttacaaccggacgcggctggactgccctttctttgggtctcccatccccacactgcgatggtttaagaatgggcaaggaagcaacctggatggtggcaactaccatgtttatgagaacggcagtctggaaattaagatgatccgcaaagaggaccagggcatctacacctgtgtcgccaccaacatcctgggcaaagctgaaaaccaagtccgcctggaggtcaaagaccccaccaggatctaccggatgcccgaggaccaggtggccagaaggggcaccacggtgcagctggagtgtcgggtgaagcacgacccctccctgaaactcaccgtctcctggctgaaggatgacgagccgctctatattggaaacaggatgaagaaggaagacgactccctgaccatctttggggtggcagagcgggaccagggcagttacacgtgtgtcgccagcaccgagctagaccaagacctggccaaggcctacctcaccgtgctaggtaactgcccatgctcaccctggcactgaccagccccaccccctccccagcagccagagaagcagtggcccggggcagttccgagggcagtgcctgcagtcaagtggccgggtcaggcgtggtgatctcttcttgcctcgtgatgtcagggttagggagctgccagtttcagaacaagctgtgctggacaggttacctcctgagtggagtcattaacttccccacgtctcaactgaaaggggcctgagtgatatagagaaagtggagaggggtttctcgttgtgatcattttacctttcttacagctaactccaccactaagtcaattaaaacaatccatccttaaagcaaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:23114 -> Molecular function: GO:0086080 [protein binding involved in heterotypic cell-cell adhesion] evidence: IEA
            GeneID:23114 -> Biological process: GO:0002175 [protein localization to paranode region of axon] evidence: IEA
            GeneID:23114 -> Biological process: GO:0007411 [axon guidance] evidence: TAS
            GeneID:23114 -> Biological process: GO:0007422 [peripheral nervous system development] evidence: ISS
            GeneID:23114 -> Biological process: GO:0030913 [paranodal junction assembly] evidence: IEA
            GeneID:23114 -> Biological process: GO:0042552 [myelination] evidence: ISS
            GeneID:23114 -> Biological process: GO:0045162 [clustering of voltage-gated sodium channels] evidence: IEA
            GeneID:23114 -> Biological process: GO:0050808 [synapse organization] evidence: IEA
            GeneID:23114 -> Biological process: GO:0071205 [protein localization to juxtaparanode region of axon] evidence: IEA
            GeneID:23114 -> Biological process: GO:0072661 [protein targeting to plasma membrane] evidence: IEA
            GeneID:23114 -> Cellular component: GO:0005622 [intracellular] evidence: ISS
            GeneID:23114 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
            GeneID:23114 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
            GeneID:23114 -> Cellular component: GO:0033010 [paranodal junction] evidence: IEA
            GeneID:23114 -> Cellular component: GO:0033268 [node of Ranvier] evidence: ISS
            GeneID:23114 -> Cellular component: GO:0033268 [node of Ranvier] evidence: TAS
            GeneID:23114 -> Cellular component: GO:0033270 [paranode region of axon] evidence: IEA
            GeneID:23114 -> Cellular component: GO:0043194 [axon initial segment] evidence: ISS

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.