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2024-04-19 20:24:59, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006941 2882 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.
ACCESSION NM_006941
VERSION NM_006941.3 GI:30179898
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 2882)
AUTHORS Pingault,V., Bodereau,V., Baral,V., Marcos,S., Watanabe,Y.,
Chaoui,A., Fouveaut,C., Leroy,C., Verier-Mine,O., Francannet,C.,
Dupin-Deguine,D., Archambeaud,F., Kurtz,F.J., Young,J.,
Bertherat,J., Marlin,S., Goossens,M., Hardelin,J.P., Dode,C. and
Bondurand,N.
TITLE Loss-of-function mutations in SOX10 cause Kallmann syndrome with
deafness
JOURNAL Am. J. Hum. Genet. 92 (5), 707-724 (2013)
PUBMED 23643381
REMARK GeneRIF: Loss-of-function mutations in SOX10 cause Kallmann
syndrome with deafness.
REFERENCE 2 (bases 1 to 2882)
AUTHORS Doddrell,R.D., Dun,X.P., Shivane,A., Feltri,M.L., Wrabetz,L.,
Wegner,M., Sock,E., Hanemann,C.O. and Parkinson,D.B.
TITLE Loss of SOX10 function contributes to the phenotype of human
Merlin-null schwannoma cells
JOURNAL Brain 136 (PT 2), 549-563 (2013)
PUBMED 23413263
REMARK GeneRIF: Loss of the SOX10 protein is key to the pathology of
Merlin-null schwannoma tumors.
REFERENCE 3 (bases 1 to 2882)
AUTHORS Heerema,M.G. and Suurmeijer,A.J.
TITLE Sox10 immunohistochemistry allows the pathologist to differentiate
between prototypical granular cell tumors and other granular cell
lesions
JOURNAL Histopathology 61 (5), 997-999 (2012)
PUBMED 22804786
REMARK GeneRIF: Sox10 is a sensitive and specific marker for the
prototypical granular cell tumour and may be used as an alternative
or additional marker for this distinct tumour.
REFERENCE 4 (bases 1 to 2882)
AUTHORS Shakhova,O., Zingg,D., Schaefer,S.M., Hari,L., Civenni,G.,
Blunschi,J., Claudinot,S., Okoniewski,M., Beermann,F.,
Mihic-Probst,D., Moch,H., Wegner,M., Dummer,R., Barrandon,Y.,
Cinelli,P. and Sommer,L.
TITLE Sox10 promotes the formation and maintenance of giant congenital
naevi and melanoma
JOURNAL Nat. Cell Biol. 14 (8), 882-890 (2012)
PUBMED 22772081
REMARK GeneRIF: virtually all congenital naevi and melanomas are SOX10
positive. Furthermore, SOX10 silencing in melanoma cells suppresses
neural crest stem cell properties, counteracts proliferation and
cell survival, and completely abolishes in vivo tumour formation
REFERENCE 5 (bases 1 to 2882)
AUTHORS Baral,V., Chaoui,A., Watanabe,Y., Goossens,M., Attie-Bitach,T.,
Marlin,S., Pingault,V. and Bondurand,N.
TITLE Screening of MITF and SOX10 regulatory regions in Waardenburg
syndrome type 2
JOURNAL PLoS ONE 7 (7), E41927 (2012)
PUBMED 22848661
REMARK GeneRIF: deletions and point mutations within the MITF and SOX10
regulatory elements in 28 yet unexplained Waardenburg syndrome type
2 cases
REFERENCE 6 (bases 1 to 2882)
AUTHORS Kuhlbrodt,K., Schmidt,C., Sock,E., Pingault,V., Bondurand,N.,
Goossens,M. and Wegner,M.
TITLE Functional analysis of Sox10 mutations found in human
Waardenburg-Hirschsprung patients
JOURNAL J. Biol. Chem. 273 (36), 23033-23038 (1998)
PUBMED 9722528
REFERENCE 7 (bases 1 to 2882)
AUTHORS Pusch,C., Hustert,E., Pfeifer,D., Sudbeck,P., Kist,R., Roe,B.,
Wang,Z., Balling,R., Blin,N. and Scherer,G.
TITLE The SOX10/Sox10 gene from human and mouse: sequence, expression,
and transactivation by the encoded HMG domain transcription factor
JOURNAL Hum. Genet. 103 (2), 115-123 (1998)
PUBMED 9760192
REFERENCE 8 (bases 1 to 2882)
AUTHORS Pingault,V., Bondurand,N., Kuhlbrodt,K., Goerich,D.E., Prehu,M.O.,
Puliti,A., Herbarth,B., Hermans-Borgmeyer,I., Legius,E.,
Matthijs,G., Amiel,J., Lyonnet,S., Ceccherini,I., Romeo,G.,
Smith,J.C., Read,A.P., Wegner,M. and Goossens,M.
TITLE SOX10 mutations in patients with Waardenburg-Hirschsprung disease
JOURNAL Nat. Genet. 18 (2), 171-173 (1998)
PUBMED 9462749
REFERENCE 9 (bases 1 to 2882)
AUTHORS Southard-Smith,E.M., Kos,L. and Pavan,W.J.
TITLE Sox10 mutation disrupts neural crest development in Dom
Hirschsprung mouse model
JOURNAL Nat. Genet. 18 (1), 60-64 (1998)
PUBMED 9425902
REFERENCE 10 (bases 1 to 2882)
AUTHORS Jacobs,J.M. and Wilson,J.
TITLE An unusual demyelinating neuropathy in a patient with Waardenburg's
syndrome
JOURNAL Acta Neuropathol. 83 (6), 670-674 (1992)
PUBMED 1636383
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC007595.1.
This sequence is a reference standard in the RefSeqGene project.
On Apr 29, 2003 this sequence version replaced gi:20127514.
Summary: This gene encodes a member of the SOX (SRY-related
HMG-box) family of transcription factors involved in the regulation
of embryonic development and in the determination of the cell fate.
The encoded protein may act as a transcriptional activator after
forming a protein complex with other proteins. This protein acts as
a nucleocytoplasmic shuttle protein and is important for neural
crest and peripheral nervous system development. Mutations in this
gene are associated with Waardenburg-Shah and
Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008].
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 :: BC007595.1, AJ001183.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
FEATURES Location/Qualifiers
source 1..2882
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q13.1"
gene 1..2882
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/note="SRY (sex determining region Y)-box 10"
/db_xref="GeneID:6663"
/db_xref="HGNC:11190"
/db_xref="HPRD:03752"
/db_xref="MIM:602229"
exon 1..194
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/inference="alignment:Splign:1.39.8"
variation complement(164)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:374061984"
exon 195..706
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/inference="alignment:Splign:1.39.8"
variation complement(219)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:368355059"
CDS 279..1679
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/note="SRY-related HMG-box gene 10; dominant megacolon,
mouse, human homolog of"
/codon_start=1
/product="transcription factor SOX-10"
/protein_id="NP_008872.1"
/db_xref="GI:5902104"
/db_xref="CCDS:CCDS13964.1"
/db_xref="GeneID:6663"
/db_xref="HGNC:11190"
/db_xref="HPRD:03752"
/db_xref="MIM:602229"
/translation="
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQDGEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKNGKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPTPPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQYLPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTETAGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASGLYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP
"
misc_feature 348..350
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P56693.1); phosphorylation site"
misc_feature <432..560
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/note="Sox developmental protein N terminal; Region:
Sox_N; pfam12444"
/db_xref="CDD:152878"
misc_feature 585..797
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/note="SOX-TCF_HMG-box, class I member of the HMG-box
superfamily of DNA-binding proteins. These proteins
contain a single HMG box, and bind the minor groove of DNA
in a highly sequence-specific manner. Members include SRY
and its homologs in insects and...; Region:
SOX-TCF_HMG-box; cd01388"
/db_xref="CDD:28966"
misc_feature order(594..596,600..605,609..614,621..626,633..635,
645..647,669..671,684..686,693..695,702..704,759..761)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28966"
misc_feature 678..713
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P56693.1);
Region: Nuclear export signal"
variation complement(296)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:149435516"
variation complement(400)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="g"
/replace="t"
/db_xref="dbSNP:199750760"
variation complement(447)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:377075961"
variation complement(469)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:372400283"
variation complement(485)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:199963686"
variation complement(489)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="g"
/replace="t"
/db_xref="dbSNP:200683397"
variation complement(509)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:377047321"
variation complement(527)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:73415876"
variation complement(536)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:150851799"
variation complement(552)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="g"
/db_xref="dbSNP:142113652"
variation complement(577)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:374038201"
variation complement(599)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="c"
/db_xref="dbSNP:372732875"
variation complement(626)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:138681658"
variation 682
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="g"
/db_xref="dbSNP:74315515"
exon 707..975
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/inference="alignment:Splign:1.39.8"
variation complement(740)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:371711030"
variation 748
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:121909117"
variation complement(785)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:199703563"
variation 799
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="c"
/db_xref="dbSNP:267607081"
variation complement(817)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:146131921"
variation 843
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="g"
/replace="t"
/db_xref="dbSNP:74315514"
variation complement(851)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:369439585"
variation complement(852)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:200475773"
variation complement(878)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:143057951"
variation complement(879)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:61756177"
variation complement(882)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:138500876"
variation complement(899)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="g"
/db_xref="dbSNP:281797260"
variation complement(956)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="g"
/replace="t"
/db_xref="dbSNP:17850220"
exon 976..2862
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/inference="alignment:Splign:1.39.8"
variation complement(1025)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:202239470"
variation 1026
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:74315521"
variation 1030
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="c"
/db_xref="dbSNP:74315518"
variation complement(1031)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:376907937"
variation complement(1041)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:5756870"
variation complement(1050)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:371580444"
variation complement(1056)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:367743809"
variation complement(1073)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:376010012"
variation complement(1098)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:143007495"
variation complement(1100)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:147334218"
variation complement(1103)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:200437243"
variation complement(1189)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:371513888"
variation complement(1196)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:200226880"
variation complement(1205)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:139884"
variation complement(1210)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="g"
/db_xref="dbSNP:150327222"
variation 1217
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:74315516"
variation complement(1271)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:141262841"
variation complement(1309)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:199657550"
variation complement(1403)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:147817756"
variation 1407
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:74315520"
variation complement(1516)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:375144235"
variation complement(1523)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:200970285"
variation complement(1530)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:370951969"
variation complement(1565)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="g"
/replace="t"
/db_xref="dbSNP:201755707"
variation complement(1568)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="c"
/db_xref="dbSNP:6000966"
variation complement(1571)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:144116155"
variation complement(1593)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:146042603"
variation complement(1634)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:372282774"
variation complement(1641)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="g"
/replace="t"
/db_xref="dbSNP:74718340"
variation complement(1646)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="g"
/db_xref="dbSNP:201297869"
STS 1647..2347
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/standard_name="SOX10_v554"
/db_xref="UniSTS:277759"
variation complement(1826)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="g"
/replace="t"
/db_xref="dbSNP:370570177"
variation complement(1901)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:377595452"
variation complement(1982)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:188234956"
variation complement(2130)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:138257808"
variation complement(2154)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:139883"
variation complement(2183..2184)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace=""
/replace="t"
/db_xref="dbSNP:35383793"
variation complement(2207)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:147459224"
variation complement(2224)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:371108088"
variation complement(2390)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:60962899"
variation complement(2391)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="g"
/replace="t"
/db_xref="dbSNP:377420828"
STS 2430..2693
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/standard_name="STS-N32174"
/db_xref="UniSTS:81415"
variation complement(2521..2525)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace=""
/replace="ccact"
/db_xref="dbSNP:370987492"
variation complement(2605)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:141442594"
variation complement(2611)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:8141371"
variation complement(2708)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="g"
/db_xref="dbSNP:182806665"
variation complement(2807)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="a"
/replace="g"
/db_xref="dbSNP:9607505"
polyA_signal 2840..2845
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
variation complement(2857)
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
/replace="c"
/replace="t"
/db_xref="dbSNP:189772048"
polyA_site 2862
/gene="SOX10"
/gene_synonym="DOM; PCWH; WS2E; WS4; WS4C"
ORIGIN
gtccggccagggtggttggtggtaaggattcaggctccgtcctaacgaggccgtggcctgaggctcagggccccccgcccctccctcccagcccaccagcgtcacctcccagccccgagctggaccgcacaccttgggacacggttttccacttcctaaggacgagccccagactggaggagaggtccgaggaggtgggcgttggactctttgcgaggaccccggcggctggcccgggggaggcggccgaggcggcggcggcggcggccgggggcgacatggcggaggagcaggacctatcggaggtggagctgagccccgtgggctcggaggagccccgctgcctgtccccggggagcgcgccctcgctagggcccgacggcggcggcggcggatcgggcctgcgagccagcccggggccaggcgagctgggcaaggtcaagaaggagcagcaggacggcgaggcggacgatgacaagttccccgtgtgcatccgcgaggccgtcagccaggtgctcagcggctacgactggacgctggtgcccatgcccgtgcgcgtcaacggcgccagcaaaagcaagccgcacgtcaagcggcccatgaacgccttcatggtgtgggctcaggcagcgcgcaggaagctcgcggaccagtacccgcacctgcacaacgctgagctcagcaagacgctgggcaagctctggaggctgctgaacgaaagtgacaagcgccccttcatcgaggaggctgagcggctccgtatgcagcacaagaaagaccacccggactacaagtaccagcccaggcggcggaagaacgggaaggccgcccagggcgaggcggagtgccccggtggggaggccgagcaaggtgggaccgccgccatccaggcccactacaagagcgcccacttggaccaccggcacccaggagagggctcccccatgtcagatgggaaccccgagcacccctcaggccagagccatggcccacccacccctccaaccaccccgaagacagagctgcagtcgggcaaggcagacccgaagcgggacgggcgctccatgggggagggcgggaagcctcacatcgacttcggcaacgtggacattggtgagatcagccacgaggtaatgtccaacatggagacctttgatgtggctgagttggaccagtacctgccgcccaatgggcacccaggccatgtgagcagctactcagcagccggctatgggctgggcagtgccctggccgtggccagtggacactccgcctggatctccaagccaccaggcgtggctctgcccacggtctcaccacctggtgtggatgccaaagcccaggtgaagacagagaccgcggggccccaggggcccccacactacaccgaccagccatccacctcacagatcgcctacacctccctcagcctgccccactatggctcagccttcccctccatctcccgcccccagtttgactactctgaccatcagccctcaggaccctattatggccactcgggccaggcctctggcctctactcggccttctcctatatggggccctcgcagcggcccctctacacggccatctctgaccccagcccctcagggccccagtcccacagccccacacactgggagcagccagtatatacgacactgtcccggccctaaagggggccctgtcgccaccaccccccgcccagcccctgcccccagcctgtgtgccctgttccttgcccacctcaggcctggtggtggcagtggaggaggctgaggaggctgaagaggctgacaggtcggggggctttctgtctggctcactgccctgatgacccacccgccccatccaggctccagcagcaaagccccaggagaacaggctggacagaggagaaggaggttgactgttgcacccacactgaaagatgaggggctgcaccttcccccaggaatgaccctctatcccaggacctgagaagggcctgctcaccctcctcggggaggggaagcaccagggttggtggcatcggaggccttaccactcctatgactcctgttttctctctcacagatagtgagggtctgacatgcccatgccacctatgccacagtgcctaagggctaggccacccagagactgtgcccggagctggccgtgtctcccactcaggggctgagagtagctttgaggagcctcattggggagtggggggttcgagggacttagtggagttctcatcccttcaatgccccctccctttctgaaggcaggaaggagttggcacagaggccccctgatccaattctgtgccaataacctcattctttgtctgagaaacagcccccagtcctcctccactacaacctccatgaccttgagacgcatcccaggaggtgacgaggcaggggctccaggaaaggaatcagagacaattcacagagcctccctccctgggctccttgccagctccctcttcccttactaggctctatggcccctgctcagtcagccccactccctgggcttcccagagagtgacagctgctcaggccctaacccttggctccaggagacacagggcccagcacccaggttgctgtcggcaggctgaagacactagaatcctgacctgtacattctgcccttgcctcttaccccttgcctcccagtggtatttgaataaagtatgtagctatatctgcccctattttcctgttctgcagccccccaaatccacatgtaactcattactgtctcctgttatttatctcagtagtcccctctcctagccactctagcccctattaactctgcattaagcattccacataataaaattaaaggttccggttaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:6663 -> Molecular function: GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] evidence: IEA
GeneID:6663 -> Molecular function: GO:0000980 [RNA polymerase II distal enhancer sequence-specific DNA binding] evidence: IEA
GeneID:6663 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA
GeneID:6663 -> Molecular function: GO:0003705 [RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:6663 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: TAS
GeneID:6663 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:6663 -> Molecular function: GO:0008134 [transcription factor binding] evidence: IEA
GeneID:6663 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI
GeneID:6663 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
GeneID:6663 -> Biological process: GO:0001755 [neural crest cell migration] evidence: IEA
GeneID:6663 -> Biological process: GO:0002052 [positive regulation of neuroblast proliferation] evidence: IEA
GeneID:6663 -> Biological process: GO:0006357 [regulation of transcription from RNA polymerase II promoter] evidence: TAS
GeneID:6663 -> Biological process: GO:0007422 [peripheral nervous system development] evidence: IEA
GeneID:6663 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS
GeneID:6663 -> Biological process: GO:0014015 [positive regulation of gliogenesis] evidence: IEA
GeneID:6663 -> Biological process: GO:0030318 [melanocyte differentiation] evidence: IEA
GeneID:6663 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IEA
GeneID:6663 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IEA
GeneID:6663 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:6663 -> Biological process: GO:0048469 [cell maturation] evidence: IEA
GeneID:6663 -> Biological process: GO:0048484 [enteric nervous system development] evidence: IEA
GeneID:6663 -> Biological process: GO:0048546 [digestive tract morphogenesis] evidence: IEA
GeneID:6663 -> Biological process: GO:0048589 [developmental growth] evidence: IEA
GeneID:6663 -> Biological process: GO:0048709 [oligodendrocyte differentiation] evidence: IEA
GeneID:6663 -> Biological process: GO:0090090 [negative regulation of canonical Wnt receptor signaling pathway] evidence: IEA
GeneID:6663 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:6663 -> Cellular component: GO:0005634 [nucleus] evidence: ISS
GeneID:6663 -> Cellular component: GO:0031315 [extrinsic to mitochondrial outer membrane] evidence: IEA
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@meso_cacase at
DBCLS
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