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2024-03-28 21:20:16, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_152989               4566 bp    mRNA    linear   PRI 20-APR-2013
DEFINITION  Homo sapiens SRY (sex determining region Y)-box 5 (SOX5),
            transcript variant 2, mRNA.
ACCESSION   NM_152989
VERSION     NM_152989.3  GI:387157917
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 4566)
  AUTHORS   Yamashita,S., Miyaki,S., Kato,Y., Yokoyama,S., Sato,T.,
            Barrionuevo,F., Akiyama,H., Scherer,G., Takada,S. and Asahara,H.
  TITLE     L-Sox5 and Sox6 proteins enhance chondrogenic miR-140 microRNA
            expression by strengthening dimeric Sox9 activity
  JOURNAL   J. Biol. Chem. 287 (26), 22206-22215 (2012)
   PUBMED   22547066
  REMARK    GeneRIF: L-Sox5 and Sox6 proteins enhance chondrogenic miR-140
            microRNA expression by strengthening dimeric Sox9 activity
REFERENCE   2  (bases 1 to 4566)
  AUTHORS   Lamb,A.N., Rosenfeld,J.A., Neill,N.J., Talkowski,M.E.,
            Blumenthal,I., Girirajan,S., Keelean-Fuller,D., Fan,Z., Pouncey,J.,
            Stevens,C., Mackay-Loder,L., Terespolsky,D., Bader,P.I.,
            Rosenbaum,K., Vallee,S.E., Moeschler,J.B., Ladda,R., Sell,S.,
            Martin,J., Ryan,S., Jones,M.C., Moran,R., Shealy,A.,
            Madan-Khetarpal,S., McConnell,J., Surti,U., Delahaye,A.,
            Heron-Longe,B., Pipiras,E., Benzacken,B., Passemard,S., Verloes,A.,
            Isidor,B., Le Caignec,C., Glew,G.M., Opheim,K.E., Descartes,M.,
            Eichler,E.E., Morton,C.C., Gusella,J.F., Schultz,R.A., Ballif,B.C.
            and Shaffer,L.G.
  TITLE     Haploinsufficiency of SOX5 at 12p12.1 is associated with
            developmental delays with prominent language delay, behavior
            problems, and mild dysmorphic features
  JOURNAL   Hum. Mutat. 33 (4), 728-740 (2012)
   PUBMED   22290657
  REMARK    GeneRIF: Haploinsufficiency of SOX5 at 12p12.1 is associated with
            developmental delays with prominent language delay, behavior
            problems, and mild dysmorphic features
REFERENCE   3  (bases 1 to 4566)
  AUTHORS   Hu,Z., Xia,Y., Guo,X., Dai,J., Li,H., Hu,H., Jiang,Y., Lu,F.,
            Wu,Y., Yang,X., Li,H., Yao,B., Lu,C., Xiong,C., Li,Z., Gui,Y.,
            Liu,J., Zhou,Z., Shen,H., Wang,X. and Sha,J.
  TITLE     A genome-wide association study in Chinese men identifies three
            risk loci for non-obstructive azoospermia
  JOURNAL   Nat. Genet. 44 (2), 183-186 (2012)
   PUBMED   22197933
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4566)
  AUTHORS   Xu,J., Kang,Y., Liao,W.M. and Yu,L.
  TITLE     MiR-194 regulates chondrogenic differentiation of human
            adipose-derived stem cells by targeting Sox5
  JOURNAL   PLoS ONE 7 (3), E31861 (2012)
   PUBMED   22396742
  REMARK    GeneRIF: MiR-194 regulates chondrogenic differentiation of
            adipose-derived stem cells by targeting Sox5
REFERENCE   5  (bases 1 to 4566)
  AUTHORS   Gorlova,O., Martin,J.E., Rueda,B., Koeleman,B.P., Ying,J.,
            Teruel,M., Diaz-Gallo,L.M., Broen,J.C., Vonk,M.C., Simeon,C.P.,
            Alizadeh,B.Z., Coenen,M.J., Voskuyl,A.E., Schuerwegh,A.J., van
            Riel,P.L., Vanthuyne,M., van 't Slot,R., Italiaander,A.,
            Ophoff,R.A., Hunzelmann,N., Fonollosa,V., Ortego-Centeno,N.,
            Gonzalez-Gay,M.A., Garcia-Hernandez,F.J., Gonzalez-Escribano,M.F.,
            Airo,P., van Laar,J., Worthington,J., Hesselstrand,R., Smith,V., de
            Keyser,F., Houssiau,F., Chee,M.M., Madhok,R., Shiels,P.G.,
            Westhovens,R., Kreuter,A., de Baere,E., Witte,T., Padyukov,L.,
            Nordin,A., Scorza,R., Lunardi,C., Lie,B.A., Hoffmann-Vold,A.M.,
            Palm,O., Garcia de la Pena,P., Carreira,P., Varga,J.,
            Hinchcliff,M., Lee,A.T., Gourh,P., Amos,C.I., Wigley,F.M.,
            Hummers,L.K., Nelson,J.L., Riemekasten,G., Herrick,A., Beretta,L.,
            Fonseca,C., Denton,C.P., Gregersen,P.K., Agarwal,S., Assassi,S.,
            Tan,F.K., Arnett,F.C., Radstake,T.R., Mayes,M.D. and Martin,J.
  CONSRTM   Spanish Scleroderma Group
  TITLE     Identification of novel genetic markers associated with clinical
            phenotypes of systemic sclerosis through a genome-wide association
            strategy
  JOURNAL   PLoS Genet. 7 (7), E1002178 (2011)
   PUBMED   21779181
  REMARK    Erratum:[PLoS Genet. 2011 Aug;7(8).
            doi:10.1371/annotation/3aeebb2e-64e5-4548-8d65-1f2d5dfeb073]
REFERENCE   6  (bases 1 to 4566)
  AUTHORS   Kamachi,Y., Uchikawa,M. and Kondoh,H.
  TITLE     Pairing SOX off: with partners in the regulation of embryonic
            development
  JOURNAL   Trends Genet. 16 (4), 182-187 (2000)
   PUBMED   10729834
  REMARK    Review article
REFERENCE   7  (bases 1 to 4566)
  AUTHORS   Lefebvre,V., Li,P. and de Crombrugghe,B.
  TITLE     A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in
            chondrogenesis and cooperatively activate the type II collagen gene
  JOURNAL   EMBO J. 17 (19), 5718-5733 (1998)
   PUBMED   9755172
REFERENCE   8  (bases 1 to 4566)
  AUTHORS   Wunderle,V.M., Critcher,R., Ashworth,A. and Goodfellow,P.N.
  TITLE     Cloning and characterization of SOX5, a new member of the human SOX
            gene family
  JOURNAL   Genomics 36 (2), 354-358 (1996)
   PUBMED   8812465
REFERENCE   9  (bases 1 to 4566)
  AUTHORS   Connor,F., Cary,P.D., Read,C.M., Preston,N.S., Driscoll,P.C.,
            Denny,P., Crane-Robinson,C. and Ashworth,A.
  TITLE     DNA binding and bending properties of the post-meiotically
            expressed Sry-related protein Sox-5
  JOURNAL   Nucleic Acids Res. 22 (16), 3339-3346 (1994)
   PUBMED   8078769
REFERENCE   10 (bases 1 to 4566)
  AUTHORS   Denny,P., Swift,S., Brand,N., Dabhade,N., Barton,P. and Ashworth,A.
  TITLE     A conserved family of genes related to the testis determining gene,
            SRY
  JOURNAL   Nucleic Acids Res. 20 (11), 2887 (1992)
   PUBMED   1614875
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC060773.1, AB081588.1 and
            BU675886.1.
            This sequence is a reference standard in the RefSeqGene project.
            On May 11, 2012 this sequence version replaced gi:30061560.
            
            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 regulator after
            forming a protein complex with other proteins. The encoded protein
            may play a role in chondrogenesis. A pseudogene of this gene is
            located on chromosome 8. Multiple transcript variants encoding
            distinct isoforms have been identified for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (b,
            also called L-SOX5B) is shorter at the N-terminus compared to
            isoform a.
            
            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 :: AB081588.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025098 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-164               BC060773.1         2-165
            165-4494            AB081588.1         163-4492
            4495-4505           BU675886.1         63-73               c
            4506-4566           BU675886.1         1-61                c
FEATURES             Location/Qualifiers
     source          1..4566
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..4566
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /note="SRY (sex determining region Y)-box 5"
                     /db_xref="GeneID:6660"
                     /db_xref="HGNC:11201"
                     /db_xref="HPRD:18086"
                     /db_xref="MIM:604975"
     exon            1..117
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(10..11)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="ag"
                     /db_xref="dbSNP:71803644"
     exon            118..199
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(128)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138006314"
     exon            200..276
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     exon            277..373
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(291)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:375746333"
     misc_feature    297..299
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /note="upstream in-frame stop codon"
     exon            374..605
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     CDS             375..2627
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /note="isoform b is encoded by transcript variant 2;
                     transcription factor SOX-5"
                     /codon_start=1
                     /product="transcription factor SOX-5 isoform b"
                     /protein_id="NP_694534.1"
                     /db_xref="GI:23308715"
                     /db_xref="CCDS:CCDS44844.1"
                     /db_xref="GeneID:6660"
                     /db_xref="HGNC:11201"
                     /db_xref="HPRD:18086"
                     /db_xref="MIM:604975"
                     /translation="
MSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPNKPHSEEFQPVSLLTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQSGESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEETPSIEKLLSKDWKDKLLAMGSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMELAKQQQEQIARQQQQLLQQQHKINLLQQQIQVQGQLPPLMIPVFPPDQRTLAAAAQQGFLLPPGFSYKAGCSDPYPVQLIPTTMAAAAAATPGLGPLQLQQLYAAQLAAMQVSPGGKLPGIPQGNLGAAVSPTSIHTDKSTNSPPPKSKDEVAQPLNLSAKPKTSDGKSPTSPTSPHMPALRINSGAGPLKASVPAALASPSARVSTIGYLNDHDAVTKAIQEARQMKEQLRREQQVLDGKVAVVNSLGLNNCRTEKEKTTLESLTQQLAVKQNEEGKFSHAMMDFNLSGDSDGSAGVSESRIYRESRGRGSNEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKAMTNLEKQPYYEEQARLSKQHLEKYPDYKYKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYFNVGQQAQIPIATAGVVYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEPHIKEEIQAEDINGEIYDEYDEEEDDPDVDYGSDSENHIAGQAN
"
     misc_feature    1998..2189
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /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(2007..2009,2013..2018,2022..2027,2034..2039,
                     2046..2048,2058..2060,2082..2084,2097..2099,2106..2108,
                     2115..2117,2172..2174)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28966"
     variation       complement(379)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:4130426"
     variation       complement(400)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61756182"
     variation       complement(401)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370911470"
     variation       complement(427)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147299551"
     variation       complement(471)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144090513"
     variation       complement(500)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61756180"
     variation       complement(531)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200092614"
     variation       complement(539)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377574533"
     variation       complement(574)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142765190"
     variation       complement(603)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373671026"
     variation       complement(604)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201538958"
     exon            606..816
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(698)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370713247"
     variation       complement(731)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:143864592"
     variation       complement(806)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149450279"
     variation       complement(812)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202009064"
     exon            817..903
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(821)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202141856"
     variation       complement(825)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200085400"
     variation       complement(842)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137922560"
     variation       complement(884)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201129307"
     variation       complement(893)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200177288"
     exon            904..1076
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(912)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200511462"
     variation       complement(942)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150313076"
     variation       complement(965)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:188932107"
     variation       complement(986)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139577239"
     variation       complement(999)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375058690"
     variation       complement(1037)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138669581"
     variation       complement(1058)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184892176"
     exon            1077..1145
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1085)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:144824530"
     variation       complement(1130)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142014018"
     exon            1146..1266
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     STS             1160..1352
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /standard_name="Sox5"
                     /db_xref="UniSTS:265085"
     variation       complement(1179)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369942747"
     variation       complement(1208)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:151018292"
     variation       complement(1209)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:201164077"
     variation       complement(1241)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372530037"
     exon            1267..1352
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1275)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375598187"
     variation       complement(1316)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142710312"
     variation       complement(1346)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201582044"
     exon            1353..1499
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1362)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374300705"
     variation       complement(1367)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:369259068"
     variation       complement(1388)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148919476"
     variation       complement(1394)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:61923847"
     variation       complement(1403)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145713000"
     variation       complement(1420)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:144670919"
     variation       complement(1439)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61756179"
     variation       complement(1461)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112856842"
     variation       complement(1464)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371364235"
     variation       complement(1471)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376540070"
     variation       complement(1481)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372480856"
     variation       complement(1483)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370708676"
     variation       complement(1485)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369028530"
     exon            1500..1677
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1553)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:61729665"
     variation       complement(1573)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:373260333"
     variation       complement(1574)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369327498"
     variation       complement(1673)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147296358"
     exon            1678..1823
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1726)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201094394"
     exon            1824..1932
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1829)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202222877"
     variation       complement(1830)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199957729"
     variation       complement(1835)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200992905"
     variation       complement(1860)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:140106320"
     STS             1917..2421
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /standard_name="Sox5"
                     /db_xref="UniSTS:265086"
     variation       complement(1928)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:112285652"
     exon            1933..2106
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(1936)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150895673"
     variation       complement(2062)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199511075"
     exon            2107..2323
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(2108)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:374480313"
     variation       complement(2142..2143)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="cc"
                     /db_xref="dbSNP:144971126"
     variation       complement(2303)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371070527"
     exon            2324..4549
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(2363)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141581669"
     variation       complement(2378)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376617830"
     variation       complement(2396)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368161034"
     variation       complement(2405)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201275351"
     variation       complement(2411)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199745484"
     variation       complement(2414)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138876515"
     variation       complement(2426)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61756181"
     variation       complement(2427)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141628352"
     variation       complement(2457)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202221487"
     variation       complement(2475)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:183456814"
     variation       complement(2519)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138618584"
     variation       complement(2552)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144757257"
     variation       complement(2554)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200387603"
     variation       complement(2555)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146051086"
     variation       complement(2561)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142768593"
     variation       complement(2577)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201011527"
     STS             2663..2896
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /standard_name="RH80811"
                     /db_xref="UniSTS:84015"
     variation       complement(2779)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:138736107"
     variation       complement(2920)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:61923823"
     variation       complement(2922)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:76614643"
     variation       complement(2923)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:76184106"
     variation       complement(2936..2937)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:201455508"
     polyA_signal    2938..2943
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
     polyA_site      2966
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
     variation       complement(3108)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371919159"
     variation       complement(3143)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:190885876"
     variation       complement(3173)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371064999"
     variation       complement(3230)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:186785434"
     variation       complement(3486)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:181607943"
     variation       complement(3536..3539)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="agag"
                     /db_xref="dbSNP:372687588"
     variation       complement(3541..3542)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="ga"
                     /db_xref="dbSNP:148266789"
     variation       complement(3831)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:115434154"
     variation       complement(3853)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:191354348"
     variation       complement(3875)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144925992"
     variation       complement(3939)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:75979655"
     variation       complement(4124)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:74615658"
     variation       complement(4220)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140829436"
     variation       complement(4407)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186460121"
     variation       complement(4419..4420)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="agat"
                     /db_xref="dbSNP:35952699"
     variation       complement(4420..4421)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="agat"
                     /db_xref="dbSNP:5797020"
     variation       complement(4422..4423)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="atag"
                     /db_xref="dbSNP:151300319"
     variation       complement(4438)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370517384"
     variation       complement(4447)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148041562"
     variation       complement(4471..4472)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="gtca"
                     /db_xref="dbSNP:368743600"
     variation       complement(4485..4486)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace=""
                     /replace="atct"
                     /db_xref="dbSNP:377274870"
     variation       complement(4493)
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:180958568"
     polyA_signal    4528..4533
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
     polyA_site      4549
                     /gene="SOX5"
                     /gene_synonym="L-SOX5"
ORIGIN      
agagtgaaaaaggcgagccaccaaaacccatctccagtctcctcccgggggcccccagcccgcctctgtgccactttgcatcccacgccggaggaggcattaacgagaccgggtaaggctttttaaacggtccaaggtgtagagccatacttcaggaggatcctcagaagttttggacaagcctccccaaatgtggcaggtgctgtgctggccattggtgacccaaagatgatgaaaaatatgttcctgcccacaaggagttagcgacctactgggctttcctcttgctgatgacatgattcctgtttgaatctgttgacaagattctgaaagctgaacagagaattctggcactgcactgggtaggaaaaaggatgtcttccaagcgaccagcctctccgtatggggaagcagatggagaggtagccatggtgacaagcagacagaaagtggaagaagaggagagtgacgggctcccagcctttcaccttcccttgcatgtgagttttcccaacaagcctcactctgaggaatttcagccagtttctctgctgacgcaagagacttgtggccataggactcccacttctcagcacaatacaatggaagttgatggcaataaagttatgtcttcatttgccccacacaactcatctacctcacctcagaaggcagaagaaggtgggcgacagagtggcgagtccttgtctagtacagccctgggaactcctgaacggcgcaagggcagtttagctgatgttgttgacaccttgaagcagaggaaaatggaagagctcatcaaaaacgagccggaagaaacccccagtattgaaaaactactctcaaaggactggaaagacaagcttcttgcaatgggatcggggaactttggcgaaataaaagggactcccgagagcttagctgagaaagaaaggcaactcatgggtatgatcaaccagctgaccagcctccgagagcagctgttggctgcccacgatgagcagaagaaactagctgcctctcagattgagaaacagcgtcagcaaatggagctggccaagcagcaacaagaacaaattgcaagacagcagcagcagcttctacagcaacaacacaaaatcaatttgctccagcaacagatccaggttcaaggtcagctgccgccattaatgattcccgtattccctcctgatcaacggacactggctgcagctgcccagcaaggattcctcctccctccaggcttcagctataaggctggatgtagtgacccttaccctgttcagctgatcccaactaccatggcagctgctgccgcagcaacaccaggcttaggcccactccaactgcagcagttatatgctgcccagctagctgcaatgcaggtatctccaggagggaagctgccaggcataccccaaggcaaccttggtgctgctgtatctcctaccagcattcacacagacaagagcacaaacagcccaccacccaaaagcaaggatgaagtggcacagccactgaacctatcagctaaacccaagacctctgatggcaaatcacccacatcacccacctctccccatatgccagctctgagaataaacagtggggcaggccccctcaaagcctctgtcccagcagcgttagctagtccttcagccagagttagcacaataggttacttaaatgaccatgatgctgtcaccaaggcaatccaagaagctcggcaaatgaaggagcaactccgacgggaacaacaggtgcttgatgggaaggtggctgttgtgaatagtctgggtctcaataactgccgaacagaaaaggaaaaaacaacactggagagtctgactcagcaactggcagttaaacagaatgaagaaggaaaatttagccatgcaatgatggatttcaatctgagtggagattctgatggaagtgctggagtctcagagtcaagaatttatagggaatcccgagggcgtggtagcaatgaaccccacataaagcgtccaatgaatgccttcatggtgtgggctaaagatgaacggagaaagatccttcaagcctttcctgacatgcacaactccaacatcagcaagatattgggatctcgctggaaagctatgacaaacctagagaaacagccatattatgaggagcaagcccgtctcagcaagcagcacctggagaagtaccctgactataagtacaagcccaggccaaagcgcacctgcctggtggatggcaaaaagctgcgcattggtgaatacaaggcaatcatgcgcaacaggcggcaggaaatgcggcagtacttcaatgttgggcaacaagcacagatccccattgccactgctggtgttgtgtaccctggagccatcgccatggctgggatgccctcccctcacctgccctcggagcactcaagcgtgtctagcagcccagagcctgggatgcctgttatccagagcacttacggtgtgaaaggagaggagccacatatcaaagaagagatacaggccgaggacatcaatggagaaatttatgatgagtacgacgaggaagaggatgatccagatgtagattatgggagtgacagtgaaaaccatattgcaggacaagccaactgataagggtcaaaagattgttgtgaccttaggacttaaagaagccctaactggttcatccttaccagtggccaagcacattaactttctcatacactgactgttactttaactgttagtcttaaatagttgggacatcagctgactaatagacctcagcctcaaaaggcttggaaagaaaaaacaaatacaacaagcaaacaacaatatcaacaacaagagattgaaataagctatgggtaaaataatgccagtaattcagctgctacatccaagcactgaagtcttacccgtcaacttttttttttttttaaataaactttatggctgtttgttctacaatgttctagaaattctcactcaggtacacagtgccaacaagtggcttgtgaatgtgttttgttgttttgtgctacaatttttaaaaagaaaaaagttttgttttgttttttggggtttctgggttttttccttttctttttctttcctttcattttttttctttgtaatgcacctgacagaaaaaaaagaaaaatgaatttctctttacttctctccaccttctccatctctctactttaaagatggaagtctgtgcatgaggggaaagagggaaaaagagcctgtttttaacttccttgctatccaccacaaaataagcaattattttctttagaggactttatctattgcacaccacactacatctttgagcaagtgccaaatttgtactgaagtgttgaccaagttcattttttctctttactttttccttttccttcttaagttaggacagtgttaaatcttagacaatcccttgaaaaacctgaaataccagcagctggtgagatttgacttttttttttaatggaaactgtaggtgctgttctcaggtgaaaagagagagagagagagagacataagaaatttagagaaaaatattttctgatcttggatttttgtgtgtatgtatgtatgtgattatggtactaataataggaataacgttggaccattgtgagttaaacccacatctggggatgaaatcccacatcctcccaagtgactggtctagaaataatcttgaccttgactttgcacttcaaatgacaacttaaccaagtatagggctcagaaattatatttttaaatgtctgattattattggatggatcaggtggccctgtgtaatagaggtgtgcatgtataacatggaagctactagcaaactgctcccagatgtcctttctccctggtcagttggttccattaacgtttgctacttagtgatttttgtttttcctgttgatattttgagcaaaacaatcattgttttcattgaatatatttggccattttttcagacaaatagaattagcttatttcttcaacattccatcctttcccgatcaggaaatgaaactgatgattttataaggtatttttcacccctccatgaagtgaggtggaggcctttagcatttcagaagtgtgggccatatgtagttcatgccataaaaagtaggatttaattaaaagtcattgcagcccaataaaatggagcctggctgcacccagggatccttgccactgctcttcccttgctgtcagattaatccactgaagtccaactttggttcaagcagagtatttgcaaagagcaacaactgaatgtgatgggactgcttatgtagattttgccagccaaatgccaaggcagttgtagggcctgtacaaataaatgcaaaatcatttcaagtcaattgccattatttgtattgaagtatcagatagatagtaaatactgcaactagtagcttgatgtgctatagttttcactccagtcatcattttcctatctcaccccccgaaacaccaccctaaagttggatttttacatataaataaaaaaagaatcccttttaaaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:6660 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:6660 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:6660 -> Molecular function: GO:0044212 [transcription regulatory region DNA binding] evidence: IEA
            GeneID:6660 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IEA
            GeneID:6660 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
            GeneID:6660 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
            GeneID:6660 -> Biological process: GO:0021953 [central nervous system neuron differentiation] evidence: IEA
            GeneID:6660 -> Biological process: GO:0032332 [positive regulation of chondrocyte differentiation] evidence: IDA
            GeneID:6660 -> Biological process: GO:0045165 [cell fate commitment] evidence: IEA
            GeneID:6660 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IEA
            GeneID:6660 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:6660 -> Biological process: GO:0048709 [oligodendrocyte differentiation] evidence: IEA
            GeneID:6660 -> Biological process: GO:0051216 [cartilage development] evidence: IEA
            GeneID:6660 -> Biological process: GO:0060164 [regulation of timing of neuron differentiation] evidence: IEA
            GeneID:6660 -> Biological process: GO:0061036 [positive regulation of cartilage development] evidence: IDA
            GeneID:6660 -> Biological process: GO:0071560 [cellular response to transforming growth factor beta stimulus] evidence: IDA
            GeneID:6660 -> Biological process: GO:2000741 [positive regulation of mesenchymal stem cell differentiation] evidence: IDA
            GeneID:6660 -> Cellular component: GO:0005634 [nucleus] evidence: IEA

by @meso_cacase at DBCLS
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