SOX6 (SRY-box transcription factor 6) - Rat Genome Database

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Gene: SOX6 (SRY-box transcription factor 6) Homo sapiens
Analyze
Symbol: SOX6
Name: SRY-box transcription factor 6
RGD ID: 1319098
HGNC Page HGNC:16421
Description: Enables DNA-binding transcription factor activity; protein homodimerization activity; and transcription cis-regulatory region binding activity. Involved in several processes, including cellular response to transforming growth factor beta stimulus; negative regulation of cardiac muscle cell differentiation; and positive regulation of cell differentiation. Located in nucleoplasm. Implicated in high grade glioma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: HSSOX6; SOXD; SRY (sex determining region Y)-box 6; SRY box 6; SRY-box 6; SRY-box containing gene 6; TOLCAS; transcription factor SOX-6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381115,966,449 - 16,738,477 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1115,966,449 - 16,739,591 (-)EnsemblGRCh38hg38GRCh38
GRCh371115,987,995 - 16,760,024 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361115,948,371 - 16,454,494 (-)NCBINCBI36hg18NCBI36
Build 341115,949,899 - 16,454,494NCBI
Celera1116,115,232 - 16,625,247 (-)NCBI
Cytogenetic Map11p15.2NCBI
HuRef1115,673,238 - 16,183,365 (-)NCBIHuRef
CHM1_11115,987,568 - 16,497,588 (-)NCBICHM1_1
T2T-CHM13v2.01116,064,414 - 16,835,856 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
cytoplasm  (IEA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA,IMP,NAS)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Hagiwara N, etal., Proc Natl Acad Sci U S A. 2000 Apr 11;97(8):4180-5.
3. SOX6 attenuates glucose-stimulated insulin secretion by repressing PDX1 transcriptional activity and is down-regulated in hyperinsulinemic obese mice. Iguchi H, etal., J Biol Chem. 2005 Nov 11;280(45):37669-80. Epub 2005 Sep 7.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Expression of a transcriptional factor, SOX6, in human gliomas. Ueda R, etal., Brain Tumor Pathol. 2004;21(1):35-8.
Additional References at PubMed
PMID:1614875   PMID:9755172   PMID:10996314   PMID:11076863   PMID:11230166   PMID:11255018   PMID:11256614   PMID:11504872   PMID:12477932   PMID:14530442   PMID:14691456   PMID:14702039  
PMID:15489336   PMID:15696972   PMID:16258006   PMID:16344560   PMID:16381901   PMID:16442531   PMID:17412698   PMID:17433257   PMID:17961134   PMID:19240061   PMID:19274049   PMID:19384854  
PMID:19453261   PMID:19709629   PMID:19714249   PMID:19801982   PMID:19913121   PMID:20081117   PMID:20379614   PMID:20395365   PMID:20548944   PMID:20628086   PMID:20966410   PMID:21084391  
PMID:21104366   PMID:21262861   PMID:21263153   PMID:21401405   PMID:21625884   PMID:21728837   PMID:21873635   PMID:21988832   PMID:22504420   PMID:22547066   PMID:22864933   PMID:23663701  
PMID:23667531   PMID:23731550   PMID:23884650   PMID:23972371   PMID:24249740   PMID:25023649   PMID:25199915   PMID:25249183   PMID:25293881   PMID:25457384   PMID:26119940   PMID:26525805  
PMID:26868133   PMID:26893351   PMID:27591578   PMID:28475012   PMID:28514442   PMID:28687615   PMID:28892647   PMID:29074889   PMID:29333458   PMID:29355560   PMID:29369542   PMID:29512775  
PMID:30021884   PMID:30062780   PMID:30200835   PMID:30580904   PMID:30690078   PMID:30957437   PMID:31253698   PMID:31506178   PMID:31609809   PMID:31729835   PMID:31746345   PMID:31938895  
PMID:32187136   PMID:32388501   PMID:32393512   PMID:32442410   PMID:32496433   PMID:32794610   PMID:32952123   PMID:32960357   PMID:33164584   PMID:33931742   PMID:33961781   PMID:34058620  
PMID:34411029   PMID:34461493   PMID:34758317   PMID:34868396   PMID:35140242   PMID:35373860   PMID:35411716  


Genomics

Comparative Map Data
SOX6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381115,966,449 - 16,738,477 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1115,966,449 - 16,739,591 (-)EnsemblGRCh38hg38GRCh38
GRCh371115,987,995 - 16,760,024 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361115,948,371 - 16,454,494 (-)NCBINCBI36hg18NCBI36
Build 341115,949,899 - 16,454,494NCBI
Celera1116,115,232 - 16,625,247 (-)NCBI
Cytogenetic Map11p15.2NCBI
HuRef1115,673,238 - 16,183,365 (-)NCBIHuRef
CHM1_11115,987,568 - 16,497,588 (-)NCBICHM1_1
T2T-CHM13v2.01116,064,414 - 16,835,856 (-)NCBI
Sox6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397115,070,107 - 115,639,186 (-)NCBIGRCm39mm39
GRCm39 Ensembl7115,070,107 - 115,638,031 (-)Ensembl
GRCm387115,470,872 - 116,040,776 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7115,470,872 - 116,038,796 (-)EnsemblGRCm38mm10GRCm38
MGSCv377122,614,858 - 123,182,258 (-)NCBIGRCm37mm9NCBIm37
MGSCv367115,262,493 - 115,822,196 (-)NCBImm8
Celera7115,422,369 - 115,985,959 (-)NCBICelera
Cytogenetic Map7F1NCBI
cM Map761.29NCBI
Sox6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21169,723,306 - 170,334,846 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1169,729,194 - 170,277,386 (-)Ensembl
Rnor_6.01185,631,702 - 186,186,192 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1185,673,177 - 186,182,829 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01192,644,288 - 193,155,831 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41173,556,966 - 174,069,437 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11173,696,212 - 174,208,683 (-)NCBI
Celera1167,560,079 - 168,058,656 (-)NCBICelera
Cytogenetic Map1q35NCBI
Sox6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541430,971,920 - 31,335,263 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541430,965,626 - 31,532,473 (-)NCBIChiLan1.0ChiLan1.0
SOX6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11115,747,495 - 16,175,439 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1115,747,495 - 16,175,246 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01116,053,730 - 16,488,566 (-)NCBIMhudiblu_PPA_v0panPan3
SOX6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12138,737,072 - 39,320,257 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2138,737,247 - 39,216,549 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2138,232,821 - 38,820,718 (-)NCBI
ROS_Cfam_1.02139,826,638 - 40,154,574 (-)NCBI
ROS_Cfam_1.0 Ensembl2139,829,824 - 40,155,369 (-)Ensembl
UMICH_Zoey_3.12138,844,094 - 39,431,782 (-)NCBI
UNSW_CanFamBas_1.02139,056,763 - 39,644,974 (-)NCBI
UU_Cfam_GSD_1.02139,389,267 - 39,977,587 (-)NCBI
Sox6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494746,297,725 - 46,878,443 (+)NCBI
SpeTri2.0NW_0049365282,331,706 - 2,912,423 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOX6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl242,453,681 - 43,068,325 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1242,447,391 - 43,068,824 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2246,096,295 - 46,213,212 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SOX6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1148,206,243 - 48,955,819 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038145,770,561 - 146,435,141 (+)NCBIVero_WHO_p1.0
Sox6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247667,689,775 - 8,084,764 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247667,683,492 - 8,301,823 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D11S1397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,197,566 - 16,197,709UniSTSGRCh37
Build 361116,154,142 - 16,154,285RGDNCBI36
Celera1116,325,152 - 16,325,295RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,883,126 - 15,883,269UniSTS
Marshfield Genetic Map1121.47UniSTS
Marshfield Genetic Map1121.47RGD
TNG Radiation Hybrid Map117833.0UniSTS
Stanford-G3 RH Map11611.0UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map11121.4UniSTS
SHGC-37207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,222,035 - 16,222,184UniSTSGRCh37
Build 361116,178,611 - 16,178,760RGDNCBI36
Celera1116,349,615 - 16,349,764RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,907,571 - 15,907,720UniSTS
TNG Radiation Hybrid Map117821.0UniSTS
Stanford-G3 RH Map11617.0UniSTS
GeneMap99-G3 RH Map11617.0UniSTS
RH45425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,212,562 - 16,212,685UniSTSGRCh37
Build 361116,169,138 - 16,169,261RGDNCBI36
Celera1116,340,148 - 16,340,271RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,898,130 - 15,898,253UniSTS
GeneMap99-GB4 RH Map1166.94UniSTS
NCBI RH Map11123.4UniSTS
WI-17892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,175,258 - 16,175,382UniSTSGRCh37
Build 361116,131,834 - 16,131,958RGDNCBI36
Celera1116,302,844 - 16,302,968RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,860,819 - 15,860,943UniSTS
GeneMap99-GB4 RH Map1166.73UniSTS
Whitehead-RH Map1158.7UniSTS
NCBI RH Map11128.4UniSTS
RH94315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,993,237 - 15,993,320UniSTSGRCh37
Build 361115,949,813 - 15,949,896RGDNCBI36
Celera1116,120,474 - 16,120,557RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,678,480 - 15,678,563UniSTS
GeneMap99-GB4 RH Map1169.16UniSTS
SHGC-83873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,009,677 - 16,009,957UniSTSGRCh37
Build 361115,966,253 - 15,966,533RGDNCBI36
Celera1116,136,915 - 16,137,195RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,694,936 - 15,695,216UniSTS
TNG Radiation Hybrid Map117368.0UniSTS
SHGC-82799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,492,743 - 16,493,017UniSTSGRCh37
Build 361116,449,319 - 16,449,593RGDNCBI36
Cytogenetic Map11p15.3UniSTS
TNG Radiation Hybrid Map117882.0UniSTS
SHGC-83953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,016,788 - 16,017,099UniSTSGRCh37
Build 361115,973,364 - 15,973,675RGDNCBI36
Celera1116,144,026 - 16,144,337RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,702,047 - 15,702,358UniSTS
TNG Radiation Hybrid Map117359.0UniSTS
RH120774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,224,839 - 16,225,127UniSTSGRCh37
Build 361116,181,415 - 16,181,703RGDNCBI36
Celera1116,352,419 - 16,352,707RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,910,375 - 15,910,663UniSTS
TNG Radiation Hybrid Map117821.0UniSTS
G63381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,300,079 - 16,300,409UniSTSGRCh37
Build 361116,256,655 - 16,256,985RGDNCBI36
Celera1116,427,638 - 16,427,968RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,985,607 - 15,985,937UniSTS
TNG Radiation Hybrid Map117781.0UniSTS
UniSTS:144491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,994,210 - 15,994,372UniSTSGRCh37
Build 361115,950,786 - 15,950,948RGDNCBI36
Celera1116,121,447 - 16,121,609RGD
HuRef1115,679,453 - 15,679,615UniSTS
D11S2872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,194,243 - 16,194,389UniSTSGRCh37
Build 361116,150,819 - 16,150,965RGDNCBI36
Celera1116,321,829 - 16,321,975RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,879,803 - 15,879,949UniSTS
D11S4042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,004,471 - 16,004,592UniSTSGRCh37
Build 361115,961,047 - 15,961,168RGDNCBI36
Celera1116,131,709 - 16,131,830RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,689,730 - 15,689,851UniSTS
SHGC-104674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,472,026 - 16,472,345UniSTSGRCh37
Build 361116,428,602 - 16,428,921RGDNCBI36
Celera1116,599,497 - 16,599,816RGD
Cytogenetic Map11p15.3UniSTS
HuRef1116,157,444 - 16,157,763UniSTS
TNG Radiation Hybrid Map117888.0UniSTS
A010A46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,175,157 - 16,175,298UniSTSGRCh37
Build 361116,131,733 - 16,131,874RGDNCBI36
Celera1116,302,743 - 16,302,884RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,860,718 - 15,860,859UniSTS
GeneMap99-GB4 RH Map1168.96UniSTS
SHGC-153595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,473,918 - 16,474,255UniSTSGRCh37
Build 361116,430,494 - 16,430,831RGDNCBI36
Celera1116,601,389 - 16,601,726RGD
Cytogenetic Map11p15.3UniSTS
HuRef1116,159,352 - 16,159,689UniSTS
TNG Radiation Hybrid Map117901.0UniSTS
SHGC-83438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,994,614 - 15,994,920UniSTSGRCh37
Build 361115,951,190 - 15,951,496RGDNCBI36
Celera1116,121,851 - 16,122,157RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,679,857 - 15,680,163UniSTS
TNG Radiation Hybrid Map117350.0UniSTS
SOX6_844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,993,219 - 15,994,031UniSTSGRCh37
Build 361115,949,795 - 15,950,607RGDNCBI36
Celera1116,120,456 - 16,121,268RGD
HuRef1115,678,462 - 15,679,274UniSTS
WI-16902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,107,607 - 16,107,750UniSTSGRCh37
Build 361116,064,183 - 16,064,326RGDNCBI36
Celera1116,235,158 - 16,235,301RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,793,186 - 15,793,329UniSTS
GeneMap99-GB4 RH Map1168.98UniSTS
Whitehead-RH Map1157.8UniSTS
RH68714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,175,519 - 16,175,705UniSTSGRCh37
Build 361116,132,095 - 16,132,281RGDNCBI36
Celera1116,303,105 - 16,303,291RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,861,080 - 15,861,266UniSTS
GeneMap99-GB4 RH Map1168.96UniSTS
G30608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,247,896 - 16,248,045UniSTSGRCh37
Build 361116,204,472 - 16,204,621RGDNCBI36
Celera1116,375,453 - 16,375,602RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,933,404 - 15,933,553UniSTS
SHGC-35069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,175,505 - 16,175,654UniSTSGRCh37
Build 361116,132,081 - 16,132,230RGDNCBI36
Celera1116,303,091 - 16,303,240RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,861,066 - 15,861,215UniSTS
Stanford-G3 RH Map11622.0UniSTS
GeneMap99-GB4 RH Map1169.16UniSTS
Whitehead-RH Map1158.5UniSTS
NCBI RH Map11123.4UniSTS
GeneMap99-G3 RH Map11622.0UniSTS
RH65285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,988,797 - 15,988,926UniSTSGRCh37
Build 361115,945,373 - 15,945,502RGDNCBI36
Celera1116,116,034 - 16,116,163RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,674,040 - 15,674,169UniSTS
GeneMap99-GB4 RH Map1167.0UniSTS
D11S4044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,172,007 - 16,172,190UniSTSGRCh37
Build 361116,128,583 - 16,128,766RGDNCBI36
Celera1116,299,593 - 16,299,776RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,857,569 - 15,857,752UniSTS
Whitehead-RH Map1161.7UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map11128.4UniSTS
WI-17844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,990,647 - 15,990,780UniSTSGRCh37
Build 361115,947,223 - 15,947,356RGDNCBI36
Celera1116,117,884 - 16,118,017RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,675,890 - 15,676,023UniSTS
GeneMap99-GB4 RH Map1169.16UniSTS
Whitehead-RH Map1158.5UniSTS
D11S2336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,337,494 - 16,337,647UniSTSGRCh37
Build 361116,294,070 - 16,294,223RGDNCBI36
Celera1116,465,026 - 16,465,179RGD
Cytogenetic Map11p15.3UniSTS
HuRef1116,022,993 - 16,023,146UniSTS
Whitehead-RH Map1158.4UniSTS
Whitehead-YAC Contig Map11 UniSTS
STS-H69535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,213,484 - 16,213,638UniSTSGRCh37
Build 361116,170,060 - 16,170,214RGDNCBI36
Celera1116,341,070 - 16,341,224RGD
Cytogenetic Map11p15.3UniSTS
HuRef1115,899,043 - 15,899,197UniSTS
GeneMap99-GB4 RH Map1167.0UniSTS
G33060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371116,175,157 - 16,175,298UniSTSGRCh37
Celera1116,302,743 - 16,302,884UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef1115,860,718 - 15,860,859UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20081117
MIR499Ahsa-miR-499a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI20081117
MIR155hsa-miR-155-5pOncomiRDBexternal_infoNANA21989846

Predicted Target Of
Summary Value
Count of predictions:9573
Count of miRNA genes:1375
Interacting mature miRNAs:1801
Transcripts:ENST00000316399, ENST00000352083, ENST00000396356, ENST00000524520, ENST00000524650, ENST00000525259, ENST00000525835, ENST00000526673, ENST00000527619, ENST00000527840, ENST00000528252, ENST00000528429, ENST00000529469, ENST00000530378, ENST00000531297, ENST00000533411, ENST00000533658, ENST00000533870
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 11 20 11 11 6 11 117 54 65 17 116 13 1 83
Low 2015 2084 1606 458 534 396 3977 1893 3508 348 1051 1395 66 1127 2697 2
Below cutoff 386 879 97 148 1181 53 252 243 138 43 270 177 107 1 76 8 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF309034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB080840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB093816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000316399   ⟹   ENSP00000324948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1115,966,449 - 16,341,269 (-)Ensembl
RefSeq Acc Id: ENST00000396356   ⟹   ENSP00000379644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1115,966,449 - 16,476,388 (-)Ensembl
RefSeq Acc Id: ENST00000524520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,465,791 - 16,738,643 (-)Ensembl
RefSeq Acc Id: ENST00000524650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,049,782 - 16,111,869 (-)Ensembl
RefSeq Acc Id: ENST00000525259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,476,338 - 16,739,591 (-)Ensembl
RefSeq Acc Id: ENST00000525835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,465,781 - 16,607,727 (-)Ensembl
RefSeq Acc Id: ENST00000526673   ⟹   ENSP00000434892
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,318,472 - 16,382,398 (-)Ensembl
RefSeq Acc Id: ENST00000527619   ⟹   ENSP00000434455
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1115,972,708 - 16,402,846 (-)Ensembl
RefSeq Acc Id: ENST00000527840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1115,986,265 - 16,015,327 (-)Ensembl
RefSeq Acc Id: ENST00000528252   ⟹   ENSP00000432134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1115,972,699 - 16,408,884 (-)Ensembl
RefSeq Acc Id: ENST00000528429   ⟹   ENSP00000433233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1115,972,708 - 16,402,863 (-)Ensembl
RefSeq Acc Id: ENST00000529469   ⟹   ENSP00000432596
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,341,011 - 16,434,450 (-)Ensembl
RefSeq Acc Id: ENST00000530378   ⟹   ENSP00000432577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,264,449 - 16,738,643 (-)Ensembl
RefSeq Acc Id: ENST00000531297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,186,781 - 16,252,536 (-)Ensembl
RefSeq Acc Id: ENST00000533411   ⟹   ENSP00000436170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,234,640 - 16,397,562 (-)Ensembl
RefSeq Acc Id: ENST00000533658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,318,026 - 16,605,991 (-)Ensembl
RefSeq Acc Id: ENST00000533870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1116,311,245 - 16,341,269 (-)Ensembl
RefSeq Acc Id: ENST00000655819   ⟹   ENSP00000499737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1115,966,449 - 16,402,867 (-)Ensembl
RefSeq Acc Id: ENST00000683767   ⟹   ENSP00000507545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1115,966,449 - 16,356,546 (-)Ensembl
RefSeq Acc Id: NM_001145811   ⟹   NP_001139283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,966,449 - 16,408,856 (-)NCBI
GRCh371115,987,995 - 16,497,935 (-)ENTREZGENE
HuRef1115,673,238 - 16,183,365 (-)ENTREZGENE
CHM1_11115,987,568 - 16,430,150 (-)NCBI
T2T-CHM13v2.01116,064,414 - 16,506,705 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145819   ⟹   NP_001139291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,966,449 - 16,402,863 (-)NCBI
GRCh371115,987,995 - 16,497,935 (-)ENTREZGENE
HuRef1115,673,238 - 16,183,365 (-)ENTREZGENE
CHM1_11115,987,568 - 16,424,136 (-)NCBI
T2T-CHM13v2.01116,064,414 - 16,500,715 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367872   ⟹   NP_001354801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,966,449 - 16,738,477 (-)NCBI
T2T-CHM13v2.01116,064,414 - 16,835,856 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367873   ⟹   NP_001354802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,966,449 - 16,356,546 (-)NCBI
T2T-CHM13v2.01116,064,414 - 16,454,413 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017508   ⟹   NP_059978
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,966,449 - 16,402,863 (-)NCBI
GRCh371115,987,995 - 16,497,935 (-)ENTREZGENE
Build 361115,948,371 - 16,380,968 (-)NCBI Archive
HuRef1115,673,238 - 16,183,365 (-)ENTREZGENE
CHM1_11115,987,568 - 16,424,136 (-)NCBI
T2T-CHM13v2.01116,064,414 - 16,500,715 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033326   ⟹   NP_201583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381115,966,449 - 16,476,388 (-)NCBI
GRCh371115,987,995 - 16,497,935 (-)ENTREZGENE
Build 361115,948,371 - 16,454,494 (-)NCBI Archive
HuRef1115,673,238 - 16,183,365 (-)ENTREZGENE
CHM1_11115,987,568 - 16,497,588 (-)NCBI
T2T-CHM13v2.01116,064,414 - 16,574,208 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_201583   ⟸   NM_033326
- Peptide Label: isoform c
- UniProtKB: P35712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139283   ⟸   NM_001145811
- Peptide Label: isoform b
- UniProtKB: P35712 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139291   ⟸   NM_001145819
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_059978   ⟸   NM_017508
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001354801   ⟸   NM_001367872
- Peptide Label: isoform d
RefSeq Acc Id: NP_001354802   ⟸   NM_001367873
- Peptide Label: isoform a
RefSeq Acc Id: ENSP00000432577   ⟸   ENST00000530378
RefSeq Acc Id: ENSP00000436170   ⟸   ENST00000533411
RefSeq Acc Id: ENSP00000499737   ⟸   ENST00000655819
RefSeq Acc Id: ENSP00000324948   ⟸   ENST00000316399
RefSeq Acc Id: ENSP00000434892   ⟸   ENST00000526673
RefSeq Acc Id: ENSP00000434455   ⟸   ENST00000527619
RefSeq Acc Id: ENSP00000433233   ⟸   ENST00000528429
RefSeq Acc Id: ENSP00000432134   ⟸   ENST00000528252
RefSeq Acc Id: ENSP00000379644   ⟸   ENST00000396356
RefSeq Acc Id: ENSP00000432596   ⟸   ENST00000529469
RefSeq Acc Id: ENSP00000507545   ⟸   ENST00000683767

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35712-F1-model_v2 AlphaFold P35712 1-828 view protein structure

Promoters
RGD ID:7219741
Promoter ID:EPDNEW_H15615
Type:initiation region
Name:SOX6_2
Description:SRY-box 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15616  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,397,498 - 16,397,558EPDNEW
RGD ID:7219739
Promoter ID:EPDNEW_H15616
Type:multiple initiation site
Name:SOX6_1
Description:SRY-box 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15615  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381116,402,867 - 16,402,927EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.2(chr11:16101236-16446623)x1 copy number loss See cases [RCV000051188] Chr11:16101236..16446623 [GRCh38]
Chr11:16122782..16468170 [GRCh37]
Chr11:16079358..16424746 [NCBI36]
Chr11:11p15.2		 uncertain significance
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_033326.3(SOX6):c.875C>T (p.Pro292Leu) single nucleotide variant Malignant melanoma [RCV000069269] Chr11:16111826 [GRCh38]
Chr11:16133372 [GRCh37]
Chr11:16089948 [NCBI36]
Chr11:11p15.2		 not provided
NM_033326.3(SOX6):c.778-24651A>G single nucleotide variant Lung cancer [RCV000109890] Chr11:16136574 [GRCh38]
Chr11:16158120 [GRCh37]
Chr11:11p15.2		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 copy number loss See cases [RCV000136773] Chr11:9989516..16825806 [GRCh38]
Chr11:10011063..16847353 [GRCh37]
Chr11:9967639..16803929 [NCBI36]
Chr11:11p15.4-15.2		 pathogenic
NM_001367873.1(SOX6):c.1733-3C>T single nucleotide variant not specified [RCV000601047] Chr11:15989233 [GRCh38]
Chr11:16010779 [GRCh37]
Chr11:11p15.2		 likely benign
NM_001367873.1(SOX6):c.718C>T (p.Gln240Ter) single nucleotide variant Tolchin-Le Caignec syndrome [RCV001251203]|not provided [RCV000599602] Chr11:16183945 [GRCh38]
Chr11:16205491 [GRCh37]
Chr11:11p15.2		 pathogenic|uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.1(chr11:16289928-16305351)x3 copy number gain not provided [RCV000737441] Chr11:16289928..16305351 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.1(chr11:16299564-16304261)x4 copy number gain not provided [RCV000737442] Chr11:16299564..16304261 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.1(chr11:16299564-16305699)x3 copy number gain not provided [RCV000737443] Chr11:16299564..16305699 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.1(chr11:16299809-16305699)x3 copy number gain not provided [RCV000737444] Chr11:16299809..16305699 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.1(chr11:16453182-16504966)x3 copy number gain not provided [RCV000737445] Chr11:16453182..16504966 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.2-15.1(chr11:15993761-16494570)x1 copy number loss not provided [RCV000749962] Chr11:15993761..16494570 [GRCh37]
Chr11:11p15.2-15.1		 benign
GRCh37/hg19 11p15.2(chr11:16140423-16152706)x3 copy number gain not provided [RCV000749963] Chr11:16140423..16152706 [GRCh37]
Chr11:11p15.2		 benign
GRCh37/hg19 11p15.2-15.1(chr11:16192283-16228217)x3 copy number gain not provided [RCV000749964] Chr11:16192283..16228217 [GRCh37]
Chr11:11p15.2-15.1		 benign
GRCh37/hg19 11p15.2-15.1(chr11:16192283-16308502)x3 copy number gain not provided [RCV000749965] Chr11:16192283..16308502 [GRCh37]
Chr11:11p15.2-15.1		 benign
GRCh37/hg19 11p15.2-15.1(chr11:16192283-16308668)x3 copy number gain not provided [RCV000749966] Chr11:16192283..16308668 [GRCh37]
Chr11:11p15.2-15.1		 benign
GRCh37/hg19 11p15.2-15.1(chr11:16193033-16231667)x3 copy number gain not provided [RCV000749967] Chr11:16193033..16231667 [GRCh37]
Chr11:11p15.2-15.1		 benign
GRCh37/hg19 11p15.2-15.1(chr11:16195869-16308668)x3 copy number gain not provided [RCV000749968] Chr11:16195869..16308668 [GRCh37]
Chr11:11p15.2-15.1		 benign
GRCh37/hg19 11p15.1(chr11:16219432-16228217)x3 copy number gain not provided [RCV000749969] Chr11:16219432..16228217 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.1(chr11:16277934-16308502)x3 copy number gain not provided [RCV000749970] Chr11:16277934..16308502 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.1(chr11:16280479-16308502)x3 copy number gain not provided [RCV000749971] Chr11:16280479..16308502 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.1(chr11:16288061-16308668)x3 copy number gain not provided [RCV000749972] Chr11:16288061..16308668 [GRCh37]
Chr11:11p15.1		 benign
NM_001367873.1(SOX6):c.445+59dup duplication not provided [RCV001665583] Chr11:16318372..16318373 [GRCh38]
Chr11:16339918..16339919 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.834T>C (p.Thr278=) single nucleotide variant not provided [RCV001691868] Chr11:16111867 [GRCh38]
Chr11:16133413 [GRCh37]
Chr11:11p15.2		 benign
NC_000011.9:g.15944880_16029095del deletion not provided [RCV000856571] Chr11:15944880..16029095 [GRCh37]
Chr11:11p15.2		 uncertain significance
GRCh37/hg19 11p15.1(chr11:16436272-18064677)x3 copy number gain not provided [RCV000848487] Chr11:16436272..18064677 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_001367873.1(SOX6):c.777+109A>G single nucleotide variant not provided [RCV001662854] Chr11:16183777 [GRCh38]
Chr11:16205323 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.2183+7A>G single nucleotide variant not provided [RCV001550546] Chr11:15986197 [GRCh38]
Chr11:16007743 [GRCh37]
Chr11:11p15.2		 benign|likely benign
NM_001367873.1(SOX6):c.1967-269A>G single nucleotide variant not provided [RCV001656322] Chr11:15986689 [GRCh38]
Chr11:16008235 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.1101+81del deletion not provided [RCV001595553] Chr11:16095915 [GRCh38]
Chr11:16117461 [GRCh37]
Chr11:11p15.2		 benign
NM_033326.3(SOX6):c.-4-61857C>G single nucleotide variant not provided [RCV001676978] Chr11:16403109 [GRCh38]
Chr11:16424655 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.1624-3579T>A single nucleotide variant not provided [RCV001710373] Chr11:16018629 [GRCh38]
Chr11:16040175 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.708+128del deletion not provided [RCV001616600] Chr11:16186655 [GRCh38]
Chr11:16208201 [GRCh37]
Chr11:11p15.2		 benign
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1		 pathogenic
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_001367873.1(SOX6):c.242C>G (p.Ser81Ter) single nucleotide variant Tolchin-Le Caignec syndrome [RCV001251202] Chr11:16318649 [GRCh38]
Chr11:16340195 [GRCh37]
Chr11:11p15.2		 pathogenic
NM_001367873.1(SOX6):c.1874T>C (p.Met625Thr) single nucleotide variant Tolchin-Le Caignec syndrome [RCV001251204] Chr11:15989089 [GRCh38]
Chr11:16010635 [GRCh37]
Chr11:11p15.2		 pathogenic
SOX6, EX1-2DEL deletion Tolchin-Le Caignec syndrome [RCV001251201] Chr11:11p15.2 pathogenic
NM_001367873.1(SOX6):c.1975T>A (p.Trp659Arg) single nucleotide variant Tolchin-Le Caignec syndrome [RCV001251205] Chr11:15986412 [GRCh38]
Chr11:16007958 [GRCh37]
Chr11:11p15.2		 pathogenic
NM_001367873.1(SOX6):c.878dup (p.Gly294fs) duplication Intellectual disability [RCV001254915] Chr11:16111822..16111823 [GRCh38]
Chr11:16133368..16133369 [GRCh37]
Chr11:11p15.2		 pathogenic
NM_001367873.1(SOX6):c.2027G>A (p.Arg676Gln) single nucleotide variant Inborn genetic diseases [RCV001266329] Chr11:15986360 [GRCh38]
Chr11:16007906 [GRCh37]
Chr11:11p15.2		 uncertain significance
NM_001367873.1(SOX6):c.706C>T (p.Gln236Ter) single nucleotide variant Inborn genetic diseases [RCV001266581] Chr11:16186785 [GRCh38]
Chr11:16208331 [GRCh37]
Chr11:11p15.2		 uncertain significance
NM_001367873.1(SOX6):c.293C>G (p.Ser98Ter) single nucleotide variant Neurodevelopmental disorder [RCV001374999] Chr11:16318598 [GRCh38]
Chr11:16340144 [GRCh37]
Chr11:11p15.2		 likely pathogenic
NM_001367873.1(SOX6):c.709-95G>A single nucleotide variant not provided [RCV001650533] Chr11:16184049 [GRCh38]
Chr11:16205595 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.-4-135A>G single nucleotide variant not provided [RCV001619627] Chr11:16341387 [GRCh38]
Chr11:16362933 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.2077C>T (p.Arg693Ter) single nucleotide variant not provided [RCV001591601] Chr11:15986310 [GRCh38]
Chr11:16007856 [GRCh37]
Chr11:11p15.2		 pathogenic
NM_001367873.1(SOX6):c.934A>G (p.Met312Val) single nucleotide variant not provided [RCV001539879] Chr11:16097653 [GRCh38]
Chr11:16119199 [GRCh37]
Chr11:11p15.2		 likely pathogenic
NM_001367873.1(SOX6):c.918G>C (p.Gln306His) single nucleotide variant not provided [RCV001726836] Chr11:16097669 [GRCh38]
Chr11:16119215 [GRCh37]
Chr11:11p15.2		 uncertain significance
NM_001367873.1(SOX6):c.626A>G (p.His209Arg) single nucleotide variant See cases [RCV002252957] Chr11:16186865 [GRCh38]
Chr11:16208411 [GRCh37]
Chr11:11p15.2		 uncertain significance
NM_001367873.1(SOX6):c.277C>T (p.Arg93Ter) single nucleotide variant not provided [RCV001726837] Chr11:16318614 [GRCh38]
Chr11:16340160 [GRCh37]
Chr11:11p15.2		 pathogenic
NM_001367873.1(SOX6):c.2330_2333dup (p.Ser778fs) microsatellite not provided [RCV001774963] Chr11:15972962..15972963 [GRCh38]
Chr11:15994508..15994509 [GRCh37]
Chr11:11p15.2		 uncertain significance
NM_001367873.1(SOX6):c.1893G>C (p.Trp631Cys) single nucleotide variant Neurodevelopmental disorder [RCV001780035] Chr11:15989070 [GRCh38]
Chr11:16010616 [GRCh37]
Chr11:11p15.2		 likely pathogenic
NM_001367873.1(SOX6):c.1252-6T>G single nucleotide variant not provided [RCV001797548] Chr11:16049944 [GRCh38]
Chr11:16071490 [GRCh37]
Chr11:11p15.2		 uncertain significance
NM_001367873.1(SOX6):c.1433_1434del (p.Ser477_Leu478insTer) deletion not provided [RCV001806972] Chr11:16049756..16049757 [GRCh38]
Chr11:16071302..16071303 [GRCh37]
Chr11:11p15.2		 pathogenic
NM_001367873.1(SOX6):c.17C>T (p.Ala6Val) single nucleotide variant Developmental disorder [RCV001843710] Chr11:16341232 [GRCh38]
Chr11:16362778 [GRCh37]
Chr11:11p15.2		 likely benign
NM_001367873.1(SOX6):c.132C>G (p.His44Gln) single nucleotide variant not provided [RCV002019291] Chr11:16341117 [GRCh38]
Chr11:16362663 [GRCh37]
Chr11:11p15.2		 likely pathogenic
NM_001367873.1(SOX6):c.1218A>G (p.Glu406=) single nucleotide variant not provided [RCV002105188] Chr11:16055785 [GRCh38]
Chr11:16077331 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.2181G>T (p.Val727=) single nucleotide variant not provided [RCV002086942] Chr11:15986206 [GRCh38]
Chr11:16007752 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.829C>T (p.Arg277Trp) single nucleotide variant not provided [RCV002225986] Chr11:16111872 [GRCh38]
Chr11:16133418 [GRCh37]
Chr11:11p15.2		 uncertain significance
NM_001367873.1(SOX6):c.381T>G (p.Leu127=) single nucleotide variant not provided [RCV002080191] Chr11:16318510 [GRCh38]
Chr11:16340056 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.720A>G (p.Gln240=) single nucleotide variant not provided [RCV002081470] Chr11:16183943 [GRCh38]
Chr11:16205489 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.2457T>C (p.Asn819=) single nucleotide variant not provided [RCV002098028] Chr11:15972839 [GRCh38]
Chr11:15994385 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.2466G>A (p.Pro822=) single nucleotide variant not provided [RCV002120313] Chr11:15972830 [GRCh38]
Chr11:15994376 [GRCh37]
Chr11:11p15.2		 likely benign
NM_001367873.1(SOX6):c.1732+10T>C single nucleotide variant not provided [RCV002154918] Chr11:16014932 [GRCh38]
Chr11:16036478 [GRCh37]
Chr11:11p15.2		 likely benign
NM_001367873.1(SOX6):c.709-6T>C single nucleotide variant not provided [RCV002178372] Chr11:16183960 [GRCh38]
Chr11:16205506 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.651G>A (p.Ala217=) single nucleotide variant not provided [RCV002202581] Chr11:16186840 [GRCh38]
Chr11:16208386 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.202G>A (p.Asp68Asn) single nucleotide variant not provided [RCV002160931] Chr11:16341047 [GRCh38]
Chr11:16362593 [GRCh37]
Chr11:11p15.2		 benign
NM_001367873.1(SOX6):c.979-14A>G single nucleotide variant not provided [RCV002161059] Chr11:16096132 [GRCh38]
Chr11:16117678 [GRCh37]
Chr11:11p15.2		 likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16421 AgrOrtholog
COSMIC SOX6 COSMIC
Ensembl Genes ENSG00000110693 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000324948.6 UniProtKB/Swiss-Prot
  ENSP00000379644 ENTREZGENE
  ENSP00000379644.3 UniProtKB/Swiss-Prot
  ENSP00000432134 ENTREZGENE
  ENSP00000432134.1 UniProtKB/Swiss-Prot
  ENSP00000432577.1 UniProtKB/TrEMBL
  ENSP00000432596.1 UniProtKB/TrEMBL
  ENSP00000433233 ENTREZGENE
  ENSP00000433233.1 UniProtKB/Swiss-Prot
  ENSP00000434455 ENTREZGENE
  ENSP00000434455.2 UniProtKB/Swiss-Prot
  ENSP00000434892.1 UniProtKB/TrEMBL
  ENSP00000436170.1 UniProtKB/TrEMBL
  ENSP00000499737.1 UniProtKB/Swiss-Prot
  ENSP00000507545 ENTREZGENE
  ENSP00000507545.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000316399.10 UniProtKB/Swiss-Prot
  ENST00000396356 ENTREZGENE
  ENST00000396356.7 UniProtKB/Swiss-Prot
  ENST00000526673.1 UniProtKB/TrEMBL
  ENST00000527619 ENTREZGENE
  ENST00000527619.6 UniProtKB/Swiss-Prot
  ENST00000528252 ENTREZGENE
  ENST00000528252.5 UniProtKB/Swiss-Prot
  ENST00000528429 ENTREZGENE
  ENST00000528429.5 UniProtKB/Swiss-Prot
  ENST00000529469.1 UniProtKB/TrEMBL
  ENST00000530378.5 UniProtKB/TrEMBL
  ENST00000533411.5 UniProtKB/TrEMBL
  ENST00000655819.1 UniProtKB/Swiss-Prot
  ENST00000683767 ENTREZGENE
  ENST00000683767.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot
GTEx ENSG00000110693 GTEx
HGNC ID HGNC:16421 ENTREZGENE
Human Proteome Map SOX6 Human Proteome Map
InterPro HMG_box_dom UniProtKB/Swiss-Prot
  HMG_box_dom_sf UniProtKB/Swiss-Prot
  SOX-5/6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55553 UniProtKB/Swiss-Prot
NCBI Gene 55553 ENTREZGENE
OMIM 607257 OMIM
  618971 OMIM
PANTHER PTHR45789:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HMG_box UniProtKB/Swiss-Prot
PharmGKB PA38137 PharmGKB
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot
SMART HMG UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot
UniProt E9PN02_HUMAN UniProtKB/TrEMBL
  E9PQ67_HUMAN UniProtKB/TrEMBL
  E9PQ78_HUMAN UniProtKB/TrEMBL
  E9PQL4_HUMAN UniProtKB/TrEMBL
  L8EBC2_HUMAN UniProtKB/TrEMBL
  P35712 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q86VX7 UniProtKB/Swiss-Prot
  Q9BXQ3 UniProtKB/Swiss-Prot
  Q9BXQ4 UniProtKB/Swiss-Prot
  Q9BXQ5 UniProtKB/Swiss-Prot
  Q9H0I8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-18 SOX6  SRY-box transcription factor 6  SOX6  SRY-box 6  Symbol and/or name change 5135510 APPROVED
2015-12-01 SOX6  SRY-box 6    SRY box 6  Symbol and/or name change 5135510 APPROVED
2015-11-10 SOX6  SRY box 6    SRY (sex determining region Y)-box 6  Symbol and/or name change 5135510 APPROVED
2011-08-17 SOX6  SRY (sex determining region Y)-box 6  SOX6  SRY (sex determining region Y)-box 6  Symbol and/or name change 5135510 APPROVED