SOX12 (SRY-box transcription factor 12) - Rat Genome Database

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Gene: SOX12 (SRY-box transcription factor 12) Homo sapiens
Analyze
Symbol: SOX12
Name: SRY-box transcription factor 12
RGD ID: 1318728
HGNC Page HGNC:11198
Description: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in nervous system development; positive regulation of regulatory T cell differentiation; and regulation of transcription by RNA polymerase II. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: SOX-22 protein; SOX22; SRY (sex determining region Y)-box 12; SRY (sex determining region Y)-box 22; SRY box 12; SRY-box 12; SRY-related HMG-box gene 22; transcription factor SOX-12
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820325,552 - 330,224 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl20325,552 - 330,224 (+)EnsemblGRCh38hg38GRCh38
GRCh3720306,196 - 310,868 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3620254,239 - 258,868 (+)NCBINCBI36Build 36hg18NCBI36
Build 3420254,238 - 258,865NCBI
Celera20401,079 - 405,712 (+)NCBICelera
Cytogenetic Map20p13NCBI
HuRef20257,640 - 262,301 (+)NCBIHuRef
CHM1_120306,210 - 310,867 (+)NCBICHM1_1
T2T-CHM13v2.020368,913 - 373,584 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)
protein-DNA complex  (IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:185058   PMID:7566098   PMID:8889548   PMID:9215677   PMID:11071752   PMID:11222737   PMID:11780052   PMID:12477932   PMID:15489334   PMID:18403418   PMID:18505825   PMID:19274049  
PMID:21873635   PMID:21988832   PMID:24019301   PMID:24920608   PMID:25704764   PMID:26998831   PMID:27858992   PMID:28473536   PMID:28975985   PMID:29127951   PMID:30858360   PMID:30922917  
PMID:31782868   PMID:31904384   PMID:32019439   PMID:32196581   PMID:32592199   PMID:32694731   PMID:33340249   PMID:33416144   PMID:33961781   PMID:34789303   PMID:34868396   PMID:35022519  
PMID:35256570   PMID:35271311   PMID:35944360   PMID:36266695  


Genomics

Comparative Map Data
SOX12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3820325,552 - 330,224 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl20325,552 - 330,224 (+)EnsemblGRCh38hg38GRCh38
GRCh3720306,196 - 310,868 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3620254,239 - 258,868 (+)NCBINCBI36Build 36hg18NCBI36
Build 3420254,238 - 258,865NCBI
Celera20401,079 - 405,712 (+)NCBICelera
Cytogenetic Map20p13NCBI
HuRef20257,640 - 262,301 (+)NCBIHuRef
CHM1_120306,210 - 310,867 (+)NCBICHM1_1
T2T-CHM13v2.020368,913 - 373,584 (+)NCBIT2T-CHM13v2.0
Sox12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392152,235,531 - 152,239,966 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2152,235,531 - 152,239,983 (-)EnsemblGRCm39 Ensembl
GRCm382152,393,611 - 152,398,046 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2152,393,611 - 152,398,063 (-)EnsemblGRCm38mm10GRCm38
MGSCv372152,219,347 - 152,223,782 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362152,085,052 - 152,089,487 (-)NCBIMGSCv36mm8
Celera2158,207,323 - 158,210,866 (-)NCBICelera
Cytogenetic Map2G3NCBI
cM Map274.94NCBI
Sox12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83161,319,800 - 161,320,819 (-)NCBIGRCr8
mRatBN7.23140,859,499 - 140,860,518 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3140,856,579 - 140,860,975 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3144,764,678 - 144,765,697 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03153,348,524 - 153,349,543 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03151,088,381 - 151,089,400 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03147,864,374 - 147,865,393 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3147,864,374 - 147,865,393 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03154,212,545 - 154,213,564 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43142,714,836 - 142,715,855 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3139,611,156 - 139,612,135 (-)NCBICelera
Cytogenetic Map3q41NCBI
Sox12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955597225,796 - 229,350 (+)NCBIChiLan1.0ChiLan1.0
SOX12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2211,414,115 - 1,417,313 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1201,410,937 - 1,413,947 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v020533,901 - 537,106 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.120304,684 - 308,588 (+)NCBIpanpan1.1PanPan1.1panPan2
SOX12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12420,509,931 - 20,515,013 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2420,513,567 - 20,514,532 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2420,162,908 - 20,167,529 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02421,203,093 - 21,207,714 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2421,206,728 - 21,207,699 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12420,478,417 - 20,483,032 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02420,584,363 - 20,588,979 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02421,015,129 - 21,019,750 (-)NCBIUU_Cfam_GSD_1.0
SOX12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1734,857,022 - 34,857,960 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11734,855,149 - 34,858,434 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21739,634,817 - 39,638,056 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SOX12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1235,454,287 - 35,457,481 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl235,454,655 - 35,455,599 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660787,627,423 - 7,631,872 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sox12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247411,428,241 - 1,431,025 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247411,428,233 - 1,432,372 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SOX12
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13(chr20:89939-1360110)x1 copy number loss See cases [RCV000050841] Chr20:89939..1360110 [GRCh38]
Chr20:70580..1340754 [GRCh37]
Chr20:18580..1288754 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1028206)x3 copy number gain See cases [RCV000050986] Chr20:89939..1028206 [GRCh38]
Chr20:70580..1008849 [GRCh37]
Chr20:18580..956849 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000050373] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:89939-975656)x1 copy number loss See cases [RCV000052733] Chr20:89939..975656 [GRCh38]
Chr20:70580..956299 [GRCh37]
Chr20:18580..904299 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1939218)x1 copy number loss See cases [RCV000052735] Chr20:89939..1939218 [GRCh38]
Chr20:70580..1919864 [GRCh37]
Chr20:18580..1867864 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1770567)x1 copy number loss See cases [RCV000052736] Chr20:89939..1770567 [GRCh38]
Chr20:70580..1751213 [GRCh37]
Chr20:18580..1699213 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1668795)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052737]|See cases [RCV000052737] Chr20:89939..1668795 [GRCh38]
Chr20:70580..1649441 [GRCh37]
Chr20:18580..1597441 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:121781-2290194)x1 copy number loss See cases [RCV000052738] Chr20:121781..2290194 [GRCh38]
Chr20:102422..2270840 [GRCh37]
Chr20:50422..2218840 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13(chr20:71023-2129746)x1 copy number loss See cases [RCV000184090] Chr20:71023..2129746 [GRCh37]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1494113)x1 copy number loss See cases [RCV000135804] Chr20:89939..1494113 [GRCh38]
Chr20:70580..1474759 [GRCh37]
Chr20:18580..1422759 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13(chr20:89939-1246891)x3 copy number gain See cases [RCV000135794] Chr20:89939..1246891 [GRCh38]
Chr20:70580..1227535 [GRCh37]
Chr20:18580..1175535 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13(chr20:89939-364235)x1 copy number loss See cases [RCV000135411] Chr20:89939..364235 [GRCh38]
Chr20:70580..344879 [GRCh37]
Chr20:18580..292879 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13(chr20:80093-1246766)x1 copy number loss See cases [RCV000139403] Chr20:80093..1246766 [GRCh38]
Chr20:60734..1227410 [GRCh37]
Chr20:8734..1175410 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13(chr20:80106-702368)x3 copy number gain See cases [RCV000138961] Chr20:80106..702368 [GRCh38]
Chr20:60747..683012 [GRCh37]
Chr20:8747..631012 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13(chr20:102451-458699)x3 copy number gain See cases [RCV000139811] Chr20:102451..458699 [GRCh38]
Chr20:83092..439343 [GRCh37]
Chr20:31092..387343 [NCBI36]
Chr20:20p13		 likely benign
GRCh38/hg38 20p13(chr20:295139-500987)x1 copy number loss See cases [RCV000139764] Chr20:295139..500987 [GRCh38]
Chr20:275780..481631 [GRCh37]
Chr20:223780..429631 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13(chr20:209424-1852477)x3 copy number gain See cases [RCV000140876] Chr20:209424..1852477 [GRCh38]
Chr20:190065..1833123 [GRCh37]
Chr20:138065..1781123 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3		 uncertain significance
GRCh38/hg38 20p13(chr20:80106-1246891)x1 copy number loss See cases [RCV000142919] Chr20:80106..1246891 [GRCh38]
Chr20:60747..1227535 [GRCh37]
Chr20:8747..1175535 [NCBI36]
Chr20:20p13		 likely pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:80927-1806080)x1 copy number loss See cases [RCV000143700] Chr20:80927..1806080 [GRCh38]
Chr20:61568..1786726 [GRCh37]
Chr20:9568..1734726 [NCBI36]
Chr20:20p13		 likely pathogenic|uncertain significance
GRCh38/hg38 20p13(chr20:89939-1852477)x1 copy number loss See cases [RCV000148279] Chr20:89939..1852477 [GRCh38]
Chr20:70580..1833123 [GRCh37]
Chr20:18580..1781123 [NCBI36]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:241301-584723)x3 copy number gain See cases [RCV000240241] Chr20:241301..584723 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
NM_006943.4(SOX12):c.839C>G (p.Ser280Trp) single nucleotide variant not specified [RCV004317752] Chr20:326763 [GRCh38]
Chr20:307407 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540)x1 copy number loss See cases [RCV000446902] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:121521-2073612)x1 copy number loss See cases [RCV000446640] Chr20:121521..2073612 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-806878)x1 copy number loss See cases [RCV000447172] Chr20:61568..806878 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-1513319)x1 copy number loss See cases [RCV000445920] Chr20:61568..1513319 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-1651420)x1 copy number loss See cases [RCV000510423] Chr20:61568..1651420 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2824960)x3 copy number gain See cases [RCV000511991] Chr20:61568..2824960 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-619400)x1 copy number loss See cases [RCV000510887] Chr20:61568..619400 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13(chr20:61568-431502)x1 copy number loss See cases [RCV000510729] Chr20:61568..431502 [GRCh37]
Chr20:20p13		 pathogenic
NM_006943.4(SOX12):c.490G>T (p.Asp164Tyr) single nucleotide variant not specified [RCV004286623] Chr20:326414 [GRCh38]
Chr20:307058 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-2010334)x1 copy number loss not provided [RCV000684132] Chr20:61568..2010334 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13(chr20:304370-309161)x1 copy number loss not provided [RCV000741062] Chr20:304370..309161 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_006943.4(SOX12):c.728A>G (p.Glu243Gly) single nucleotide variant not provided [RCV000905791] Chr20:326652 [GRCh38]
Chr20:307296 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13(chr20:61568-491171)x1 copy number loss not provided [RCV000846530] Chr20:61568..491171 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-1305971)x1 copy number loss not provided [RCV001007067] Chr20:61568..1305971 [GRCh37]
Chr20:20p13		 pathogenic
NC_000020.10:g.157772_706326dup duplication Neurodevelopmental disorder [RCV000787408] Chr20:157772..706326 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:288904-874280)x3 copy number gain not provided [RCV000848132] Chr20:288904..874280 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.732G>A (p.Thr244=) single nucleotide variant not provided [RCV000959600] Chr20:326656 [GRCh38]
Chr20:307300 [GRCh37]
Chr20:20p13		 benign
NM_006943.4(SOX12):c.636C>G (p.Ala212=) single nucleotide variant not provided [RCV000909606] Chr20:326560 [GRCh38]
Chr20:307204 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13(chr20:61568-2269777)x1 copy number loss not provided [RCV001007065] Chr20:61568..2269777 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:63244-813880)x1 copy number loss See cases [RCV001194569] Chr20:63244..813880 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:61568-677437)x1 copy number loss not provided [RCV001258750] Chr20:61568..677437 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:67778-974841) copy number loss Global developmental delay [RCV001352667] Chr20:67778..974841 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-806878) copy number loss not specified [RCV002052694] Chr20:61568..806878 [GRCh37]
Chr20:20p13		 likely pathogenic
GRCh37/hg19 20p13(chr20:61568-1823540) copy number loss not specified [RCV002052695] Chr20:61568..1823540 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:242496-742740) copy number gain not specified [RCV002052696] Chr20:242496..742740 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:79455-347319)x1 copy number loss not provided [RCV002472830] Chr20:79455..347319 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.418C>T (p.Pro140Ser) single nucleotide variant not specified [RCV004121263] Chr20:326342 [GRCh38]
Chr20:306986 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.43C>T (p.Pro15Ser) single nucleotide variant not specified [RCV004235687] Chr20:325967 [GRCh38]
Chr20:306611 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.731C>T (p.Thr244Met) single nucleotide variant not specified [RCV004117938] Chr20:326655 [GRCh38]
Chr20:307299 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.575C>A (p.Ala192Glu) single nucleotide variant not specified [RCV004122673] Chr20:326499 [GRCh38]
Chr20:307143 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.352G>T (p.Ala118Ser) single nucleotide variant not specified [RCV004243608] Chr20:326276 [GRCh38]
Chr20:306920 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.551G>C (p.Arg184Pro) single nucleotide variant not specified [RCV004177119] Chr20:326475 [GRCh38]
Chr20:307119 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.713A>C (p.Glu238Ala) single nucleotide variant not specified [RCV004219144] Chr20:326637 [GRCh38]
Chr20:307281 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.67G>A (p.Ala23Thr) single nucleotide variant not specified [RCV004101978] Chr20:325991 [GRCh38]
Chr20:306635 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.772C>A (p.Leu258Met) single nucleotide variant not specified [RCV004146491] Chr20:326696 [GRCh38]
Chr20:307340 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.347A>T (p.Lys116Met) single nucleotide variant not specified [RCV004112456] Chr20:326271 [GRCh38]
Chr20:306915 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.781G>C (p.Gly261Arg) single nucleotide variant not specified [RCV004122389] Chr20:326705 [GRCh38]
Chr20:307349 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.646G>C (p.Ala216Pro) single nucleotide variant not specified [RCV004091681] Chr20:326570 [GRCh38]
Chr20:307214 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.433C>T (p.Arg145Cys) single nucleotide variant not specified [RCV004226862] Chr20:326357 [GRCh38]
Chr20:307001 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.611A>G (p.Gln204Arg) single nucleotide variant not specified [RCV004134547] Chr20:326535 [GRCh38]
Chr20:307179 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.698A>C (p.Glu233Ala) single nucleotide variant not specified [RCV004095521] Chr20:326622 [GRCh38]
Chr20:307266 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.599C>G (p.Ala200Gly) single nucleotide variant not specified [RCV004267159] Chr20:326523 [GRCh38]
Chr20:307167 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.604C>G (p.Arg202Gly) single nucleotide variant not specified [RCV004266271] Chr20:326528 [GRCh38]
Chr20:307172 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 copy number gain Renal agenesis [RCV003327640] Chr20:87153..23635465 [GRCh38]
Chr20:20p13-11.21		 pathogenic
NM_006943.4(SOX12):c.622G>C (p.Gly208Arg) single nucleotide variant not specified [RCV004348670] Chr20:326546 [GRCh38]
Chr20:307190 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.353C>A (p.Ala118Glu) single nucleotide variant not specified [RCV004339161] Chr20:326277 [GRCh38]
Chr20:306921 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61569-1794919)x3 copy number gain not provided [RCV003485206] Chr20:61569..1794919 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 copy number gain not provided [RCV003485207] Chr20:61569..9542361 [GRCh37]
Chr20:20p13-12.2		 pathogenic
Single allele deletion not provided [RCV003448689] Chr20:61001..1041262 [GRCh37]
Chr20:20p13		 pathogenic
Single allele deletion not provided [RCV003448677] Chr20:61001..2316914 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 copy number gain not provided [RCV003885494] Chr20:68351..16142323 [GRCh37]
Chr20:20p13-12.1		 pathogenic
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 copy number gain not provided [RCV003885495] Chr20:68351..23860313 [GRCh37]
Chr20:20p13-11.21		 pathogenic
NM_006943.4(SOX12):c.631G>A (p.Ala211Thr) single nucleotide variant not specified [RCV004457557] Chr20:326555 [GRCh38]
Chr20:307199 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.47C>T (p.Pro16Leu) single nucleotide variant not specified [RCV004457555] Chr20:325971 [GRCh38]
Chr20:306615 [GRCh37]
Chr20:20p13		 uncertain significance
NM_006943.4(SOX12):c.719G>C (p.Gly240Ala) single nucleotide variant not specified [RCV004457558] Chr20:326643 [GRCh38]
Chr20:307287 [GRCh37]
Chr20:20p13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3104
Count of miRNA genes:918
Interacting mature miRNAs:1077
Transcripts:ENST00000342665, ENST00000544632
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.

Markers in Region
RH98756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720310,693 - 310,840UniSTSGRCh37
Build 3620258,693 - 258,840RGDNCBI36
Celera20405,537 - 405,684RGD
Cytogenetic Map20p13UniSTS
HuRef20262,122 - 262,269UniSTS
GeneMap99-GB4 RH Map207.94UniSTS
STS-T67132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720310,580 - 310,821UniSTSGRCh37
Build 3620258,580 - 258,821RGDNCBI36
Celera20405,424 - 405,665RGD
Cytogenetic Map20p13UniSTS
HuRef20262,009 - 262,250UniSTS
GeneMap99-GB4 RH Map208.74UniSTS
SOX12_1637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720310,257 - 311,003UniSTSGRCh37
Build 3620258,257 - 259,003RGDNCBI36
Celera20405,101 - 405,847RGD
HuRef20261,686 - 262,432UniSTS
RH47996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3720310,095 - 310,214UniSTSGRCh37
Build 3620258,095 - 258,214RGDNCBI36
Celera20404,939 - 405,058RGD
Cytogenetic Map20p13UniSTS
HuRef20261,524 - 261,643UniSTS
GeneMap99-GB4 RH Map207.94UniSTS


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 pharyngeal arch
High
Medium 1290 755 1205 106 803 104 1415 550 2022 286 1319 1111 11 153 1032 2
Low 1149 2151 520 517 1070 360 2686 1381 1712 133 141 502 163 1 1051 1501 4 2
Below cutoff 85 1 1 78 1 255 266 255

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000342665   ⟹   ENSP00000347646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl20325,552 - 330,224 (+)Ensembl
RefSeq Acc Id: NM_006943   ⟹   NP_008874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3820325,552 - 330,224 (+)NCBI
GRCh3720306,215 - 310,872 (+)NCBI
Build 3620254,239 - 258,868 (+)NCBI Archive
Celera20401,079 - 405,712 (+)RGD
HuRef20257,640 - 262,301 (+)NCBI
CHM1_120306,210 - 310,867 (+)NCBI
T2T-CHM13v2.020368,913 - 373,584 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_008874 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB69627 (Get FASTA)   NCBI Sequence Viewer  
  AAH67361 (Get FASTA)   NCBI Sequence Viewer  
  EAX10683 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000347646
  ENSP00000347646.1
GenBank Protein O15370 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_008874   ⟸   NM_006943
- UniProtKB: Q5D038 (UniProtKB/Swiss-Prot),   Q9NUD4 (UniProtKB/Swiss-Prot),   O15370 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000347646   ⟸   ENST00000342665

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15370-F1-model_v2 AlphaFold O15370 1-315 view protein structure

Promoters
RGD ID:6799130
Promoter ID:HG_KWN:38288
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000077435,   OTTHUMT00000077436
Position:
Human AssemblyChrPosition (strand)Source
Build 3620253,061 - 256,647 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11198 AgrOrtholog
COSMIC SOX12 COSMIC
Ensembl Genes ENSG00000177732 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342665 ENTREZGENE
  ENST00000342665.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot
GTEx ENSG00000177732 GTEx
HGNC ID HGNC:11198 ENTREZGENE
Human Proteome Map SOX12 Human Proteome Map
InterPro HMG_box_dom UniProtKB/Swiss-Prot
  HMG_box_dom_sf UniProtKB/Swiss-Prot
  SOX-11/4 UniProtKB/Swiss-Prot
KEGG Report hsa:6666 UniProtKB/Swiss-Prot
NCBI Gene 6666 ENTREZGENE
OMIM 601947 OMIM
PANTHER PTHR10270:SF221 UniProtKB/Swiss-Prot
  SOX TRANSCRIPTION FACTOR UniProtKB/Swiss-Prot
Pfam HMG_box UniProtKB/Swiss-Prot
PharmGKB PA36035 PharmGKB
PIRSF SOX-12/11/4a UniProtKB/Swiss-Prot
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot
SMART HMG UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot
UniProt O15370 ENTREZGENE
  Q5D038 ENTREZGENE
  Q9NUD4 ENTREZGENE
  SOX12_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5D038 UniProtKB/Swiss-Prot
  Q9NUD4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-18 SOX12  SRY-box transcription factor 12  SOX12  SRY-box 12  Symbol and/or name change 5135510 APPROVED
2015-12-01 SOX12  SRY-box 12  SOX12  SRY box 12  Symbol and/or name change 5135510 APPROVED
2015-11-10 SOX12  SRY box 12  SOX12  SRY (sex determining region Y)-box 12  Symbol and/or name change 5135510 APPROVED