GGRNA Home | Help | Advanced search

2024-03-29 16:34:50, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_006883               1951 bp    mRNA    linear   PRI 29-APR-2013
DEFINITION  Homo sapiens short stature homeobox (SHOX), transcript variant 2,
            mRNA.
ACCESSION   NM_006883
VERSION     NM_006883.2  GI:89257356
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 1951)
  AUTHORS   Song,S.H., Balce,G.C., Agashe,M.V., Lee,H., Hong,S.J., Park,Y.E.,
            Kim,S.G. and Song,H.R.
  TITLE     New proposed clinico-radiologic and molecular criteria in
            hypochondroplasia: FGFR 3 gene mutations are not the only cause of
            hypochondroplasia
  JOURNAL   Am. J. Med. Genet. A 158A (10), 2456-2462 (2012)
   PUBMED   22903874
  REMARK    GeneRIF: The presence of SHOX mutations suggest
            genotypic-phenotypic overlap between hypochondroplasia and
            Leri-Weill dyschondrosteosis.
REFERENCE   2  (bases 1 to 1951)
  AUTHORS   Benito-Sanz,S., Royo,J.L., Barroso,E., Paumard-Hernandez,B.,
            Barreda-Bonis,A.C., Liu,P., Gracia,R., Lupski,J.R.,
            Campos-Barros,A., Gomez-Skarmeta,J.L. and Heath,K.E.
  TITLE     Identification of the first recurrent PAR1 deletion in Leri-Weill
            dyschondrosteosis and idiopathic short stature reveals the presence
            of a novel SHOX enhancer
  JOURNAL   J. Med. Genet. 49 (7), 442-450 (2012)
   PUBMED   22791839
  REMARK    GeneRIF: The identified recurrent PAR1 deletion results in the loss
            of this previously unreported enhancer which we propose may
            decrease SHOX transcription, resulting in Leri-Weill
            dyschondrosteosis or idiopathic short stature due to SHOX
            haploinsufficiency.
REFERENCE   3  (bases 1 to 1951)
  AUTHORS   Rappold,G.A., Durand,C., Decker,E., Marchini,A. and Schneider,K.U.
  TITLE     New roles of SHOX as regulator of target genes
  JOURNAL   Pediatr Endocrinol Rev 9 (SUPPL 2), 733-738 (2012)
   PUBMED   22946287
  REMARK    GeneRIF: Employing microarray analyses and cell culture
            experiments, a strong effect of SHOX on the expression of the
            natriuretic peptide BNP and the fibroblast growth factor receptor
            gene FGFR3 could be demonstrated
REFERENCE   4  (bases 1 to 1951)
  AUTHORS   Danzig,J. and Levine,M.A.
  TITLE     A novel intronic mutation in SHOX causes short stature by
            disrupting a splice acceptor site: direct demonstration of aberrant
            splicing by expression of a minigene in HEK-293T cells
  JOURNAL   J. Pediatr. Endocrinol. Metab. 25 (9-10), 889-895 (2012)
   PUBMED   23426818
  REMARK    GeneRIF: Mutant SHOX minigene generated only the smaller transcript
REFERENCE   5  (bases 1 to 1951)
  AUTHORS   Durand,C., Decker,E., Roeth,R., Schneider,K.U. and Rappold,G.
  TITLE     The homeobox transcription factor HOXA9 is a regulator of SHOX in
            U2OS cells and chicken micromass cultures
  JOURNAL   PLoS ONE 7 (9), E45369 (2012)
   PUBMED   23028966
  REMARK    GeneRIF: Data identified the homeodomain protein HOXA9 as a
            positive regulator of SHOX expression in U2OS cells.
REFERENCE   6  (bases 1 to 1951)
  AUTHORS   Rao,E., Weiss,B., Fukami,M., Rump,A., Niesler,B., Mertz,A.,
            Muroya,K., Binder,G., Kirsch,S., Winkelmann,M., Nordsiek,G.,
            Heinrich,U., Breuning,M.H., Ranke,M.B., Rosenthal,A., Ogata,T. and
            Rappold,G.A.
  TITLE     Pseudoautosomal deletions encompassing a novel homeobox gene cause
            growth failure in idiopathic short stature and Turner syndrome
  JOURNAL   Nat. Genet. 16 (1), 54-63 (1997)
   PUBMED   9140395
REFERENCE   7  (bases 1 to 1951)
  AUTHORS   Ogata,T., Yoshizawa,A., Muroya,K., Matsuo,N., Fukushima,Y.,
            Rappold,G. and Yokoya,S.
  TITLE     Short stature in a girl with partial monosomy of the
            pseudoautosomal region distal to DXYS15: further evidence for the
            assignment of the critical region for a pseudoautosomal growth
            gene(s)
  JOURNAL   J. Med. Genet. 32 (10), 831-834 (1995)
   PUBMED   8558568
REFERENCE   8  (bases 1 to 1951)
  AUTHORS   Kuznetzova,T., Baranov,A., Ivaschenko,T., Savitsky,G.A.,
            Lanceva,O.E., Wang,M.R., Giollant,M., Malet,P., Kascheeva,T.,
            Vakharlovsky,V. et al.
  TITLE     X;Y translocation in a girl with short stature and some features of
            Turner's syndrome: cytogenetic and molecular studies
  JOURNAL   J. Med. Genet. 31 (8), 649-651 (1994)
   PUBMED   7815426
REFERENCE   9  (bases 1 to 1951)
  AUTHORS   Ballabio,A., Bardoni,B., Carrozzo,R., Andria,G., Bick,D.,
            Campbell,L., Hamel,B., Ferguson-Smith,M.A., Gimelli,G., Fraccaro,M.
            et al.
  TITLE     Contiguous gene syndromes due to deletions in the distal short arm
            of the human X chromosome
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 86 (24), 10001-10005 (1989)
   PUBMED   2602357
REFERENCE   10 (bases 1 to 1951)
  AUTHORS   Zuffardi,O., Maraschio,P., Lo Curto,F., Muller,U., Giarola,A. and
            Perotti,L.
  TITLE     The role of Yp in sex determination: new evidence from X/Y
            translocations
  JOURNAL   Am. J. Med. Genet. 12 (2), 175-184 (1982)
   PUBMED   6954848
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX004827.19.
            This sequence is a reference standard in the RefSeqGene project.
            On Mar 8, 2006 this sequence version replaced gi:6031202.
            
            Summary: This gene belongs to the paired homeobox family and is
            located in the pseudoautosomal region 1 (PAR1) of X and Y
            chromosomes. Defects in this gene are associated with idiopathic
            growth retardation and in the short stature phenotype of Turner
            syndrome patients. This gene is highly conserved across species
            from mammals to fish to flies. Alternatively spliced transcript
            variants encoding different isoforms have been noted for this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) contains an alternate 3'
            terminal exon compared to transcript variant 1, and encodes a
            shorter isoform (SHOXb) with a different C-terminus compared to
            isoform SHOXa.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: Y11535.1 [ECO:0000331]
            RNAseq introns       :: mixed/partial sample support ERS025091
                                    [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-259               BX004827.19        24828-25086
            260-968             BX004827.19        30950-31658
            969-1177            BX004827.19        35102-35310
            1178-1235           BX004827.19        41305-41362
            1236-1324           BX004827.19        41483-41571
            1325-1951           BX004827.19        59269-59895
FEATURES             Location/Qualifiers
     source          1..1951
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="Xp22.33"
                     /map="Yp11.3"
     gene            1..1951
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /note="short stature homeobox"
                     /db_xref="GeneID:6473"
                     /db_xref="HGNC:10853"
                     /db_xref="HPRD:02430"
                     /db_xref="MIM:312865"
                     /db_xref="MIM:400020"
     exon            1..259
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /inference="alignment:Splign:1.39.8"
     variation       6
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:28475683"
     variation       12
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:3813940"
     variation       16
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374378100"
     variation       43..44
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="t"
                     /replace="tt"
                     /db_xref="dbSNP:112273183"
     variation       44..45
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="ttg"
                     /db_xref="dbSNP:200223988"
     variation       45..46
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="tg"
                     /replace="ttg"
                     /db_xref="dbSNP:68102883"
     variation       46..47
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:199946685"
     variation       47..48
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="gtt"
                     /db_xref="dbSNP:72118607"
     variation       47
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200022908"
     variation       55
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:72246778"
     variation       56..57
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:59633441"
     variation       56
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:55872554"
     STS             73..1723
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /db_xref="UniSTS:494832"
     variation       180
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:113313554"
     variation       185
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:111549748"
     variation       187
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:185642798"
     variation       231
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371510416"
     exon            260..968
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /inference="alignment:Splign:1.39.8"
     variation       278
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182995615"
     variation       320
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:2239401"
     variation       379
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:187326087"
     variation       449
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191787445"
     variation       554
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375938368"
     misc_feature    602..604
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /note="upstream in-frame stop codon"
     variation       644
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:368712281"
     variation       673
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:201157428"
     CDS             692..1369
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /note="isoform SHOXb is encoded by transcript variant 2;
                     growth control factor, X-linked; pseudoautosomal
                     homeobox-containing osteogenic protein"
                     /codon_start=1
                     /product="short stature homeobox protein isoform SHOXb"
                     /protein_id="NP_006874.1"
                     /db_xref="GI:6031203"
                     /db_xref="CCDS:CCDS14106.1"
                     /db_xref="GeneID:6473"
                     /db_xref="HGNC:10853"
                     /db_xref="HPRD:02430"
                     /db_xref="MIM:312865"
                     /db_xref="MIM:400020"
                     /translation="
MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDITEGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQQMEFCSCRPGWSIMA
"
     misc_feature    1007..1009
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
                     /db_xref="HPRD:00277"
     misc_feature    1043..1219
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(1043..1057,1061..1063,1112..1114,1130..1132,
                     1169..1171,1175..1180,1187..1192,1196..1204,1208..1213)
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(1049..1051,1058..1060,1178..1180,1187..1192,
                     1199..1201)
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       727
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376369288"
     variation       745
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368409954"
     variation       754
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142306835"
     variation       777
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:146304983"
     variation       787
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374590634"
     variation       811
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139059497"
     variation       814
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140473647"
     variation       830..831
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:35183803"
     variation       861
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150426690"
     variation       878
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138243769"
     variation       881
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371578837"
     variation       890
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200663078"
     variation       902
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375027970"
     variation       952
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368925113"
     exon            969..1177
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /inference="alignment:Splign:1.39.8"
     variation       970
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:193922465"
     variation       995
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:137852558"
     variation       1008
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199774904"
     variation       1016
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:202119896"
     variation       1031
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200593538"
     variation       1038
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:193922466"
     variation       1054
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:149609259"
     variation       1084
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:374188319"
     variation       1085
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:137852554"
     variation       1091
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:193922467"
     variation       1096
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1063806"
     variation       1102
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:367787242"
     variation       1117
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:143360725"
     variation       1138
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371433978"
     variation       1149
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:137852555"
     exon            1178..1235
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /inference="alignment:Splign:1.39.8"
     variation       1193
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137852557"
     variation       1195
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:367892499"
     variation       1208
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137852556"
     variation       1224..1225
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="t"
                     /db_xref="dbSNP:35974286"
     variation       1229
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371772960"
     variation       1234
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:202144835"
     exon            1236..1324
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /inference="alignment:Splign:1.39.8"
     variation       1237
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138998412"
     variation       1267
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200088460"
     variation       1268
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376330042"
     variation       1274
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:137852552"
     variation       1275
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188370909"
     variation       1288
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:137852553"
     variation       1289
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371048081"
     exon            1325..1951
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /inference="alignment:Splign:1.39.8"
     variation       1344
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:193072890"
     variation       1348
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28474801"
     STS             1377..1767
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /standard_name="D1S1423"
                     /db_xref="UniSTS:149619"
     STS             1377..1446
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /standard_name="D1S1423"
                     /db_xref="UniSTS:149619"
     variation       1391
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:184167749"
     variation       1397
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374619213"
     STS             1401..1529
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /standard_name="D15S1477"
                     /db_xref="UniSTS:474482"
     variation       1407
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188372244"
     variation       1408
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:192269539"
     variation       1439
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368101881"
     variation       1483
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:73190342"
     variation       1548
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:112901407"
     STS             1558..1676
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /standard_name="L17705"
                     /db_xref="UniSTS:66091"
     variation       1593
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184377871"
     variation       1596
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188375104"
     variation       1597
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113339335"
     variation       1601
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:28670541"
     variation       1639
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:34282634"
     variation       1685
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373398506"
     variation       1704
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:189561631"
     variation       1727
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:28645282"
     variation       1790
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142367088"
     variation       1884
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:182086638"
     variation       1923
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:112555123"
     variation       1926
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:73607295"
     variation       1935
                     /gene="SHOX"
                     /gene_synonym="GCFX; PHOG; SHOXY; SS"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:377049799"
ORIGIN      
cgcctgcttttgcccgggtcctgagaacaggggctccccacactttttttttttttggttttgttttatttcgtttccgcgcgtctctttctactgcaaacagaaatgggagggtggacaggcgggtaggagcggatcagacgcccaggacgcagcagcccgagtccgcacagggtttgcgggaggtggtgaccgcgctggggacgccaggacgcgaatgaacctccggggcgcgctcggggcctgcgctcagagcttggaaaactggagtttgcttttcctccggccacggagagaacgcgggtaacctgtgtggggggctcgggcgcctgcgcccccctcctgcgcgcgcgctctcccttccaaaaatgggatctttcccccttcgcaccaaggtgtacggacgccaaacagtgatgaaatgagaagaaagccaattgccggcctggggggtgggggagacacagcgtctctgcgtgcgtccgccgcggagcccggagaccagtaattgcaccagacaggcagcgcatggggggctgggcgaggtcgccgcgtataaatagtgagatttccaatggaaaggcgtaaataacagcgctggtgatccacccgcgcgcacgggccgtcctctccgcgcggggagacgcgcgcatccaccagccccggctgctcgccagccccggccccagccatggaagagctcacggcttttgtatccaagtcttttgaccagaaaagcaaggacggtaacggcggaggcggaggcggcggaggtaagaaggattccattacgtaccgggaagttttggagagcggactggcgcgctcccgggagctggggacgtcggattccagcctccaggacatcacggagggcggcggccactgcccggtgcatttgttcaaggaccacgtagacaatgacaaggagaaactgaaagaattcggcaccgcgagagtggcagaagggatttatgaatgcaaagagaagcgcgaggacgtgaagtcggaggacgaggacgggcagaccaagctgaaacagaggcgcagccgcaccaacttcacgctggagcagctgaacgagctcgagcgactcttcgacgagacccattaccccgacgccttcatgcgcgaggagctcagccagcgcctggggctctccgaggcgcgcgtgcaggtttggttccagaaccggagagccaagtgccgcaaacaagagaatcagatgcataaaggcgtcatcttgggcacagccaaccacctagacgcctgccgagtggcaccctacgtcaacatgggagccttacggatgcctttccaacagatggagttttgctcttgtcgcccgggctggagtataatggcatgatctcgactcactgcaacctccgcctcccgagttcaagcgattctcctgcctcagcctcccgagtagctgggattacaggtgcccaccaccatgtcaagataatgtttgtattttcagtagagatggggtttgaccatgttggccaggctggtctcgaactcctgacctcaggtgatccacccgccttagcctcccaaagtgctgggatgacaggcgtgagcccctgcgcccggcctttgtaactttatttttaattttttttttttttttaagaaagacagagtcttgctctgtcacccaggctggagcacactggtgcgatcatagctcactgcagcctcaaactcctgggctcaagcaatcctcccacctcagcctcctgagtagctgggactacaggcacccaccaccacacccagctaatttttttgatttttactagagacgggatcttgctttgctgctgaggctggtcttgagctcctgagctccaaagatcctctcacctccacctcccaaagtgttagaattacaagcatgaaccactgcccgtggtctccaaaaaaaggactgttacgtgga
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:6473 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA
            GeneID:6473 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:6473 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:6473 -> Biological process: GO:0001501 [skeletal system development] evidence: TAS
            GeneID:6473 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
            GeneID:6473 -> Cellular component: GO:0005634 [nucleus] evidence: IEA

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