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2024-04-25 08:45:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_032507 3135 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens piggyBac transposable element derived 1 (PGBD1),
transcript variant 2, mRNA.
ACCESSION NM_032507
VERSION NM_032507.3 GI:296080758
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 3135)
AUTHORS Kitazawa,M., Ohnuma,T., Takebayashi,Y., Shibata,N., Baba,H.,
Ohi,K., Yasuda,Y., Nakamura,Y., Aleksic,B., Yoshimi,A., Okochi,T.,
Ikeda,M., Naitoh,H., Hashimoto,R., Iwata,N., Ozaki,N., Takeda,M.
and Arai,H.
TITLE No associations found between the genes situated at 6p22.1,
HIST1H2BJ, PRSS16, and PGBD1 in Japanese patients diagnosed with
schizophrenia
JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B (4), 456-464
(2012)
PUBMED 22488895
REMARK GeneRIF: The genes HIST1H2BJ, PRSS16, and PGBD1 were not associated
with Japanese patients with schizophrenia.
REFERENCE 2 (bases 1 to 3135)
AUTHORS Yue,W.H., Wang,H.F., Sun,L.D., Tang,F.L., Liu,Z.H., Zhang,H.X.,
Li,W.Q., Zhang,Y.L., Zhang,Y., Ma,C.C., Du,B., Wang,L.F., Ren,Y.Q.,
Yang,Y.F., Hu,X.F., Wang,Y., Deng,W., Tan,L.W., Tan,Y.L., Chen,Q.,
Xu,G.M., Yang,G.G., Zuo,X.B., Yan,H., Ruan,Y.Y., Lu,T.L., Han,X.,
Ma,X.H., Wang,Y., Cai,L.W., Jin,C., Zhang,H.Y., Yan,J., Mi,W.F.,
Yin,X.Y., Ma,W.B., Liu,Q., Kang,L., Sun,W., Pan,C.Y., Shuang,M.,
Yang,F.D., Wang,C.Y., Yang,J.L., Li,K.Q., Ma,X., Li,L.J., Yu,X.,
Li,Q.Z., Huang,X., Lv,L.X., Li,T., Zhao,G.P., Huang,W., Zhang,X.J.
and Zhang,D.
TITLE Genome-wide association study identifies a susceptibility locus for
schizophrenia in Han Chinese at 11p11.2
JOURNAL Nat. Genet. 43 (12), 1228-1231 (2011)
PUBMED 22037552
REMARK GeneRIF: wf fqw qf wefq q grq
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 3135)
AUTHORS Li,T., Li,Z., Chen,P., Zhao,Q., Wang,T., Huang,K., Li,J., Li,Y.,
Liu,J., Zeng,Z., Feng,G., He,L. and Shi,Y.
TITLE Common variants in major histocompatibility complex region and TCF4
gene are significantly associated with schizophrenia in Han Chinese
JOURNAL Biol. Psychiatry 68 (7), 671-673 (2010)
PUBMED 20673877
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 4 (bases 1 to 3135)
AUTHORS Corneveaux,J.J., Myers,A.J., Allen,A.N., Pruzin,J.J., Ramirez,M.,
Engel,A., Nalls,M.A., Chen,K., Lee,W., Chewning,K., Villa,S.E.,
Meechoovet,H.B., Gerber,J.D., Frost,D., Benson,H.L., O'Reilly,S.,
Chibnik,L.B., Shulman,J.M., Singleton,A.B., Craig,D.W., Van
Keuren-Jensen,K.R., Dunckley,T., Bennett,D.A., De Jager,P.L.,
Heward,C., Hardy,J., Reiman,E.M. and Huentelman,M.J.
TITLE Association of CR1, CLU and PICALM with Alzheimer's disease in a
cohort of clinically characterized and neuropathologically verified
individuals
JOURNAL Hum. Mol. Genet. 19 (16), 3295-3301 (2010)
PUBMED 20534741
REMARK GeneRIF: Observational study and genome-wide association study of
gene-disease association. (HuGE Navigator)
REFERENCE 5 (bases 1 to 3135)
AUTHORS Agapkina,Iu.V., Nikitin,A.G., Brovkin,A.N., Pushkov,A.A.,
Evdokimova,M.A., Kudriashova,O.Iu., Osmolovskaia,V.S.,
Minushkina,L.O., Kochkina,M.S., Selezneva,N.D., Dankovtseva,E.N.,
Chumakova,O.S., Baklanova,T.N., Talyzin,P.A., Reznichenko,N.E.,
Donetskaia,O.P., Tereshchenko,S.N., Krasil'nikova,E.S.,
Dzhaiani,N.A., Akatova,E.V., Glezer,M.G., Galiavich,A.S.,
Zakirova,V.B., Kaziolova,N.A., Timofeeva,I.V., Iagoda,A.V.,
Boeva,O.I., Katel'nitskaia,L.I., Khorolets,E.V., Shlyk,S.V.,
Volkova,E.G., Margarian,M.P., Guz',I.O., Konstantinov,V.O.,
Timofeeva,A.N., Sidorenko,B.A., Zateishchikiov,D.A. and
Nosikov,V.V.
TITLE [Polymorphic markers G(-455)A of gene FGB and C(-1654)T of gene
PROC and genetic predisposition to unfavorable outcomes patients
undergoing acute coronary syndrome]
JOURNAL Mol. Biol. (Mosk.) 44 (4), 613-619 (2010)
PUBMED 20873219
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 3135)
AUTHORS Schjeide,B.M., McQueen,M.B., Mullin,K., DiVito,J., Hogan,M.F.,
Parkinson,M., Hooli,B., Lange,C., Blacker,D., Tanzi,R.E. and
Bertram,L.
TITLE Assessment of Alzheimer's disease case-control associations using
family-based methods
JOURNAL Neurogenetics 10 (1), 19-25 (2009)
PUBMED 18830724
REMARK GeneRIF: Meta-analysis of gene-disease association. (HuGE
Navigator)
REFERENCE 7 (bases 1 to 3135)
AUTHORS Sarkar,A., Sim,C., Hong,Y.S., Hogan,J.R., Fraser,M.J.,
Robertson,H.M. and Collins,F.H.
TITLE Molecular evolutionary analysis of the widespread piggyBac
transposon family and related 'domesticated' sequences
JOURNAL Mol. Genet. Genomics 270 (2), 173-180 (2003)
PUBMED 12955498
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff in
collaboration with Hugh Robertson. The reference sequence was
derived from DA946293.1, BC128585.1 and AK223446.1.
On May 15, 2010 this sequence version replaced gi:25777740.
Summary: The piggyBac family of proteins, found in diverse animals,
are transposases related to the transposase of the canonical
piggyBac transposon from the moth, Trichoplusia ni. This family
also includes genes in several genomes, including human, that
appear to have been derived from the piggyBac transposons. This
gene belongs to the subfamily of piggyBac transposable element
derived (PGBD) genes. The PGBD proteins appear to be novel, with no
obvious relationship to other transposases, or other known protein
families. This gene product is specifically expressed in the brain,
however, its exact function is not known. Alternative splicing
results in multiple transcript variants encoding the same
protein.[provided by RefSeq, May 2010].
Transcript Variant: This variant (2) differs in the 5' UTR,
compared to variant 1. Variants 1 and 2 encode the same protein.
##Evidence-Data-START##
Transcript exon combination :: AK291228.1, BC128585.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025086 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-153 DA946293.1 1-153
154-2930 BC128585.1 1-2777
2931-3135 AK223446.1 2916-3120
FEATURES Location/Qualifiers
source 1..3135
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p22.1"
gene 1..3135
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/note="piggyBac transposable element derived 1"
/db_xref="GeneID:84547"
/db_xref="HGNC:19398"
/db_xref="HPRD:11426"
exon 1..382
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/inference="alignment:Splign:1.39.8"
variation 31
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace=""
/replace="c"
/db_xref="dbSNP:376481543"
variation 50
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:182334296"
variation 123
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:202113856"
variation 140
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:186933400"
variation 170
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374027976"
variation 236
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="g"
/replace="t"
/db_xref="dbSNP:191423707"
variation 367
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:377568800"
misc_feature 373..375
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/note="upstream in-frame stop codon"
exon 383..816
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/inference="alignment:Splign:1.39.8"
variation 392
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="g"
/replace="t"
/db_xref="dbSNP:370077679"
variation 401
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:199749086"
CDS 421..2850
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/note="cerebral protein-4; cerebral protein 4"
/codon_start=1
/product="piggyBac transposable element-derived protein 1"
/protein_id="NP_115896.1"
/db_xref="GI:14210514"
/db_xref="CCDS:CCDS4648.1"
/db_xref="GeneID:84547"
/db_xref="HGNC:19398"
/db_xref="HPRD:11426"
/translation="
MYEALPGPAPENEDGLVKVKEEDPTWEQVCNSQEGSSHTQEICRLRFRHFCYQEAHGPQEALAQLRELCHQWLRPEMHTKEQIMELLVLEQFLTILPKELQPCVKTYPLESGEEAVTVLENLETGSGDTGQQASVYIQGQDMHPMVAEYQGVSLECQSLQLLPGITTLKCEPPQRPQGNPQEVSGPVPHGSAHLQEKNPRDKAVVPVFNPVRSQTLVKTEEETAQAVAAEKWSHLSLTRRNLCGNSAQETVMSLSPMTEEIVTKDRLFKAKQETSEEMEQSGEASGKPNRECAPQIPCSTPIATERTVAHLNTLKDRHPGDLWARMHISSLEYAAGDITRKGRKKDKARVSELLQGLSFSGDSDVEKDNEPEIQPAQKKLKVSCFPEKSWTKRDIKPNFPSWSALDSGLLNLKSEKLNPVELFELFFDDETFNLIVNETNNYASQKNVSLEVTVQEMRCVFGVLLLSGFMRHPRREMYWEVSDTDQNLVRDAIRRDRFELIFSNLHFADNGHLDQKDKFTKLRPLIKQMNKNFLLYAPLEEYYCFDKSMCECFDSDQFLNGKPIRIGYKIWCGTTTQGYLVWFEPYQEESTMKVDEDPDLGLGGNLVMNFADVLLERGQYPYHLCFDSFFTSVKLLSALKKKGVRATGTIRENRTEKCPLMNVEHMKKMKRGYFDFRIEENNEIILCRWYGDGIISLCSNAVGIEPVNEVSCCDADNEEIPQISQPSIVKVYDECKEGVAKMDQIISKYRVRIRSKKWYSILVSYMIDVAMNNAWQLHRACNPGASLDPLDFRRFVAHFYLEHNAHLSD
"
misc_feature 541..792
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/note="SCAN oligomerization domain; Region: SCAN; cd07936"
/db_xref="CDD:153421"
misc_feature order(559..564,568..576,589..597,601..606,613..618,
625..630,634..645,655..660,667..672,679..687,691..696,
700..711,766..768,775..780,784..792)
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/note="dimerization interface [polypeptide binding]; other
site"
/db_xref="CDD:153421"
misc_feature 1498..1500
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q96JS3.1); phosphorylation site"
misc_feature 1672..2745
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/note="Transposase IS4; Region: DDE_Tnp_1_7; pfam13843"
/db_xref="CDD:206014"
variation 425
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:145687745"
variation 440
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:147711434"
variation 441
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:77432588"
variation 455
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:146147836"
variation 461
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:146955908"
variation 479
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374885052"
variation 493
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:114108814"
variation 508
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:377259598"
variation 515
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:111824233"
variation 523
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:114802814"
variation 538
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:371191301"
variation 539
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="t"
/db_xref="dbSNP:373121440"
variation 546
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="t"
/db_xref="dbSNP:1150723"
variation 550
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:143001863"
variation 551
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:377213554"
variation 566
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376284542"
variation 588
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370251891"
variation 589
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:115704058"
variation 591
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374895380"
variation 603
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:149402191"
variation 616
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:141311101"
variation 629
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374149714"
variation 644
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368732368"
variation 645
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:115774579"
variation 668
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370944384"
variation 676
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:145595497"
variation 692
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:138000084"
variation 713
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:142611268"
variation 741
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:371398454"
variation 755
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200077598"
variation 762
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:146089282"
variation 765
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:202115881"
variation 786
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:139734956"
variation 802
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201040615"
exon 817..973
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/inference="alignment:Splign:1.39.8"
variation 841
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:149378160"
variation 843
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:369933396"
variation 860
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200889872"
variation 921
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:377579839"
variation 944
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201136697"
variation 960
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370190642"
exon 974..1062
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/inference="alignment:Splign:1.39.8"
variation 979
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:41269293"
variation 998
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:148512859"
variation 1022
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:145647328"
variation 1044
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="t"
/db_xref="dbSNP:147753198"
exon 1063..1192
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/inference="alignment:Splign:1.39.8"
variation 1064
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:140909568"
variation 1069
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:201464950"
variation 1088
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:113099438"
variation 1095
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:151300360"
variation 1099
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:140761201"
variation 1102
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:368839771"
variation 1119
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="t"
/db_xref="dbSNP:115048063"
variation 1127
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:150118191"
variation 1135
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:139942981"
variation 1136
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:115946459"
variation 1147
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:372388049"
variation 1151
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:3800324"
variation 1162
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:3800325"
variation 1187
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:3800326"
variation 1188
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:138163820"
variation 1191
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201698521"
exon 1193..1289
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/inference="alignment:Splign:1.39.8"
variation 1226
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="t"
/db_xref="dbSNP:372524682"
variation 1249
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:12210601"
variation 1259
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:376355935"
variation 1267
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:145011136"
exon 1290..3115
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/inference="alignment:Splign:1.39.8"
variation 1301
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:373880207"
variation 1313
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:185338871"
variation 1351
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="g"
/replace="t"
/db_xref="dbSNP:111232284"
variation 1367
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:377211662"
variation 1370
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:199718652"
variation 1456
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:148252586"
variation 1465
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:61741278"
variation 1472
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="g"
/replace="t"
/db_xref="dbSNP:141451644"
variation 1499
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:150861226"
variation 1546
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:372484685"
variation 1564
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:138134516"
variation 1586
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="g"
/replace="t"
/db_xref="dbSNP:375177248"
variation 1590
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:143874020"
variation 1608
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="g"
/replace="t"
/db_xref="dbSNP:2281042"
variation 1613
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:33932084"
variation 1618
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:373235441"
variation 1626
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:376942756"
variation 1636
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200878562"
variation 1674
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:201690431"
variation 1730
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="t"
/db_xref="dbSNP:371650496"
variation 1737
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:140972908"
variation 1872
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:116218584"
variation 1877
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376710760"
variation 1893
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:181599868"
variation 1932
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:367832979"
variation 1953
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:373230517"
variation 2052
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:114020324"
variation 2108
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:377057334"
variation 2110
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:11756103"
variation 2116
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:369049968"
variation 2126
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:148568569"
variation 2196
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:16893917"
variation 2205
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="g"
/replace="t"
/db_xref="dbSNP:151181559"
variation 2244
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="g"
/replace="t"
/db_xref="dbSNP:140230205"
variation 2246
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:200552389"
variation 2251
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143963445"
variation 2283
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:146424648"
variation 2300
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:141087060"
variation 2304
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:150171687"
variation 2319
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:369967702"
variation 2349
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201094704"
variation 2368
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:115701378"
variation 2385
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:138581225"
variation 2386
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200203742"
variation 2414
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:114746102"
variation 2449
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:139975763"
variation 2450
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:148884952"
variation 2452
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:1997660"
variation 2493
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373711744"
variation 2519
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:148102095"
variation 2534
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375608685"
variation 2568
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368213423"
variation 2571
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:111676346"
variation 2580
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:199791488"
variation 2595
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:41269295"
variation 2605
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143914040"
variation 2647
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201714424"
variation 2648
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="t"
/db_xref="dbSNP:200075250"
variation 2658
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:115398017"
variation 2660
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:147237521"
variation 2738
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:115496403"
STS 2743..2927
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/standard_name="RH79237"
/db_xref="UniSTS:53842"
variation 2751
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="c"
/db_xref="dbSNP:116321682"
variation 2758
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="g"
/replace="t"
/db_xref="dbSNP:139051198"
variation 2810
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:143300150"
variation 2829
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:114687796"
variation 2836
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="g"
/db_xref="dbSNP:6456811"
variation 2853
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="t"
/db_xref="dbSNP:9461449"
variation 2865
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:369174958"
variation 2868
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:373324481"
variation 2912
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:9468331"
variation 3040
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:1062169"
variation 3063
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:115301752"
variation 3089
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="c"
/replace="t"
/db_xref="dbSNP:7767897"
variation 3111
/gene="PGBD1"
/gene_synonym="dJ874C20.4; HUCEP-4; SCAND4"
/replace="a"
/replace="g"
/db_xref="dbSNP:73385824"
ORIGIN
actccgctgcgggcgcggcgcagggagaagcttttgtacccgcccagctgctggaggcgccggcagcgcccgccagacccgccagcccagcggcccgggctctggggaaaccggcgctcccgacaggggagcaccgggcctctgagctccctcgggagcctttcacgaggtcagctacgtctttgttgtgcgcgttcctgaacttttggtccattaaccaacaattagacacgccggtattcagtgcctggcgcggtgctagatgctgggtgtaatctcagaaaaatacattcaggggcgcgcctgagggtgctggctgctggcatctcaggtgctttacgtgcattcgtgaagaagcccatcagtatttcttgaataccagaccccaagctaagtgaagctttagcctctaagctcaacatgtatgaagctttgccaggccctgctcctgaaaatgaagatggccttgtgaaagtgaaggaggaagatcccacctgggagcaggtgtgcaactcacaggagggcagctcccacactcaggagatttgccgcctgcgctttcggcacttctgctaccaggaggctcacggaccccaggaagctctggcccaactccgagaactttgtcatcaatggctgagaccggagatgcacaccaaggaacagataatggaactgctggtgctggagcagttcctgaccatcctgcccaaggagctccagccctgtgtgaagacatatcctctggagagtggagaggaggcagtgacagtgctggagaatctagagacaggaagtggagacacaggacaacaggcctctgtctatattcagggacaggacatgcacccaatggtggcagaatatcaaggagtctctttggagtgtcagagcctccagctcctgcctgggataaccaccctgaagtgtgaacctccacagcgtcctcaagggaacccccaagaagtgagtgggcctgttccccacggatcagctcatctccaggaaaaaaaccccagagacaaggctgtagtgcctgtgtttaacccagtcaggtcccagacattggtgaagactgaggaagaaacagcccaggccgttgctgcagagaagtggtcacatctgagtctgactcggaggaacctctgtgggaactcagctcaggagacagttatgagcctcagtccgatgactgaagaaattgtaactaaagatagattgtttaaagcaaagcaagaaacttctgaagaaatggaacaaagtggagaagcctcaggaaagcccaacagagagtgtgcaccccagattccttgtagtactcctattgctactgaaaggacagttgcacatttgaacactctgaaggaccgtcacccaggtgatttgtgggcccgcatgcacatctcatccctggaatatgctgcaggagacattacccgaaaagggagaaaaaaagacaaagctcgagtgagtgaactgctccaaggcctctcattctctggtgactcagatgtggaaaaagataatgagcctgagatccagcctgctcaaaagaagttaaaggtatcatgtttcccagaaaagagttggaccaaaagagacattaaacccaattttccaagctggtcagcactggattctggacttttgaatctcaagagcgaaaagttgaacccagtagagctttttgaattattttttgatgatgaaacattcaacttaattgtcaatgaaaccaataattatgcttctcagaaaaatgtcagcttggaagtcacagttcaggaaatgaggtgtgtgtttggtgtcttacttttgagtggatttatgaggcatcctagaagggaaatgtattgggaagtctctgacaccgatcagaacctggttagagatgcaatcagaagggacagatttgaattgattttctcaaacctgcactttgcagataatggccacctagatcaaaaagataagtttacaaagttgagacctctcataaaacaaatgaataaaaatttcctcttgtatgctcccctggaagaatactattgctttgataagtcaatgtgtgaatgctttgatagtgaccaattcctgaatggaaagcctattagaattggctataaaatttggtgtggtacaaccacacagggttatctggtttggtttgaaccctatcaagaagaatcaactatgaaggtagatgaggatcctgatcttgggttaggtggaaatctagtgatgaacttcgctgatgttcttttagagagaggtcagtatccctatcacctgtgttttgatagcttctttacaagtgtcaaattgttgtcagccttgaaaaagaagggggtgagggcaacaggaacaattcgtgagaacaggaccgaaaaatgtccccttatgaatgtagaacatatgaaaaaaatgaagagagggtattttgatttccgaatagaagaaaacaatgagataattttgtgtcgttggtatggggatggcattatcagtctgtgctccaatgctgtgggcatagaaccagtcaatgaggtaagctgttgtgatgctgataacgaagaaatccctcagataagtcaaccatccatagtaaaagtgtatgatgaatgcaaggaaggtgtagctaaaatggatcaaattatttcgaaatacagggtgaggataagaagcaagaaatggtactcaattttggtgagctacatgattgatgtagccatgaacaatgcatggcaactacacagagcctgtaacccaggtgcttctctagaccccttggattttcggagatttgttgcacatttctacttggaacacaatgctcatctgtcagattagggtacataaaatggacatagtgcagacattaataagacatagaaaaataataattatacatgctgttgtaccctcccaaagtaaatctgatatatgtaatgaagttattaaataatacttttaaaaatcagacatttatatagagtttcaaagactattgtaacaagtaatgttaaaaattgtctgtgagaatgttgaactgtagtacctttctctatgtcaagttttgtgtcagacatgggaaatcatgtatttgttcaattgaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:84547 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:84547 -> Molecular function: GO:0005044 [scavenger receptor activity] evidence: IEA
GeneID:84547 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
GeneID:84547 -> Cellular component: GO:0016020 [membrane] evidence: IEA
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