SOX17 (SRY-box transcription factor 17) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: SOX17 (SRY-box transcription factor 17) Homo sapiens
Analyze
Symbol: SOX17
Name: SRY-box transcription factor 17
RGD ID: 1313358
HGNC Page HGNC:18122
Description: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and beta-catenin binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; protein destabilization; and protein stabilization. Located in nucleus. Part of transcription regulator complex. Implicated in intracranial aneurysm; patent ductus arteriosus; and vesicoureteral reflux. Biomarker of intracranial aneurysm and primary pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ22252; SRY (sex determining region Y)-box 17; SRY box 17; SRY-box 17; SRY-related HMG-box transcription factor SOX17; transcription factor SOX-17; VUR3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh38854,457,935 - 54,460,892 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl854,457,935 - 54,460,892 (+)EnsemblGRCh38hg38GRCh38
GRCh37855,370,495 - 55,373,452 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36855,533,048 - 55,536,009 (+)NCBINCBI36Build 36hg18NCBI36
Build 34855,533,047 - 55,535,484NCBI
Celera851,361,039 - 51,364,000 (+)NCBICelera
Cytogenetic Map8q11.23NCBI
HuRef850,838,617 - 50,841,578 (+)NCBIHuRef
CHM1_1855,422,260 - 55,425,221 (+)NCBICHM1_1
T2T-CHM13v2.0854,835,189 - 54,838,146 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-bromo-2'-deoxyuridine  (EXP)
5-fluorouracil  (EXP,ISO)
6-aminonicotinamide  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetic acid  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
angiotensin II  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromochloroacetic acid  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
calciol  (ISO)
camptothecin  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
CHIR 99021  (EXP)
Chlorophacinone  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chrysene  (ISO)
columbamine  (EXP)
Cuprizon  (ISO)
diethylstilbestrol  (EXP)
dimethyl sulfoxide  (EXP)
diniconazole  (EXP)
dinoseb  (EXP)
diquat  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
fenvalerate  (ISO)
fluazinam  (EXP)
flusilazole  (EXP)
folic acid  (ISO)
gefitinib  (EXP)
genistein  (ISO)
gentamycin  (ISO)
hexaconazole  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
lead(0)  (EXP)
Licochalcone B  (EXP)
lipopolysaccharide  (ISO)
maleic acid  (EXP)
methamphetamine  (ISO)
mianserin  (EXP)
mifepristone  (ISO)
monocrotaline  (ISO)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (EXP)
naphthalene  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
remdesivir  (ISO)
resveratrol  (EXP,ISO)
ritanserin  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
silicon dioxide  (EXP)
sorafenib  (EXP)
sunitinib  (EXP)
tetrachloroethene  (ISO)
tetraphene  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP)
vandetanib  (EXP)
vinclozolin  (ISO)
ziprasidone  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IBA,IEA,ISS)
cardiac cell fate determination  (IMP)
cardiogenic plate morphogenesis  (IEA,ISS)
cell migration involved in gastrulation  (IEA)
cellular response to leukemia inhibitory factor  (IEA)
common bile duct development  (IEA)
embryonic foregut morphogenesis  (IEA,ISS)
embryonic heart tube development  (IEA,ISS)
embryonic heart tube morphogenesis  (IEA,ISS)
embryonic organ development  (IEA)
endocardial cell differentiation  (IEA,ISS)
endocardium formation  (IEA,ISS)
endoderm development  (IEA,ISO)
endoderm formation  (IBA,IDA)
endodermal cell differentiation  (IEA)
endodermal cell fate determination  (IEA)
endodermal cell fate specification  (IEA,ISS)
endodermal digestive tract morphogenesis  (IEA,ISS)
gallbladder development  (IEA)
gastrulation  (IEA)
gene expression  (IEA)
heart development  (IBA,IEA,ISS)
heart formation  (TAS)
heart looping  (IEA,ISS)
inner cell mass cellular morphogenesis  (IEA)
metanephros development  (IMP)
negative regulation of canonical Wnt signaling pathway  (IBA,IEA,IMP,ISS)
negative regulation of cell growth  (IMP)
negative regulation of Wnt signaling pathway  (IEA)
outflow tract morphogenesis  (IEA,ISS)
positive regulation of DNA-templated transcription  (IEA,ISS)
positive regulation of endodermal cell differentiation  (IEA)
positive regulation of gene expression  (IEA)
positive regulation of protein catabolic process  (IEA)
positive regulation of stem cell differentiation  (IEA)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,ISS)
protein destabilization  (IMP)
protein stabilization  (IMP)
regulation of cardiac cell fate specification  (IEA,ISS)
regulation of cell differentiation  (IEA)
regulation of DNA-templated transcription  (IEA,ISS)
regulation of embryonic development  (IEA,ISS)
regulation of stem cell division  (IEA)
regulation of stem cell proliferation  (IEA)
regulation of transcription by RNA polymerase II  (IEA,ISS)
response to alkaloid  (IEA,ISO)
rostrocaudal neural tube patterning  (IEA)
signal transduction involved in regulation of gene expression  (IEA)
spermatogenesis  (IEA)
stem cell differentiation  (IEA,ISO)
stem cell fate specification  (IEA)
ureter development  (IMP)
vasculogenesis  (IBA,IEA,ISS)
Wnt signaling pathway  (IEA)

Cellular Component
chromatin  (ISA)
nucleoplasm  (TAS)
nucleus  (IBA,IDA,IEA,ISO)
transcription regulator complex  (IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Bilguvar K, etal., Nat Genet. 2008 Dec;40(12):1472-7. doi: 10.1038/ng.240. Epub 2008 Nov 9.
2. Differential gene expression profiling of cultured neu-transformed versus spontaneously-transformed rat cholangiocytes and of corresponding cholangiocarcinomas. Dumur CI, etal., Exp Mol Pathol. 2010 Dec;89(3):227-35. Epub 2010 Sep 9.
3. Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk. Foroud T, etal., Stroke. 2012 Nov;43(11):2846-52. doi: 10.1161/STROKEAHA.112.656397. Epub 2012 Sep 6.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Gräf S, etal., Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4.
6. Common genetic variants in pulmonary arterial hypertension. Gu S, etal., Lancet Respir Med. 2019 Mar;7(3):190-191. doi: 10.1016/S2213-2600(18)30448-X. Epub 2018 Dec 5.
7. Association of SOX17 Gene Polymorphisms and Intracranial Aneurysm: A Case-Control Study and Meta-Analysis. Hong EP, etal., World Neurosurg. 2018 Feb;110:e823-e829. doi: 10.1016/j.wneu.2017.11.108. Epub 2017 Nov 27.
8. Deficiency of endothelium-specific transcription factor Sox17 induces intracranial aneurysm. Lee S, etal., Circulation. 2015 Mar 17;131(11):995-1005. doi: 10.1161/CIRCULATIONAHA.114.012568. Epub 2015 Jan 16.
9. Associations among Genetic Variants and Intracranial Aneurysm in a Chinese Population. Li B, etal., Yonsei Med J. 2019 Jul;60(7):651-658. doi: 10.3349/ymj.2019.60.7.651.
10. Genetic polymorphisms in Sox17 associated with intracranial aneurysm in Chinese Han people: a genotype-phenotype study. Li M, etal., Neuropsychiatr Dis Treat. 2019 Apr 2;15:779-783. doi: 10.2147/NDT.S193478. eCollection 2019.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. Sox17 Deficiency Promotes Pulmonary Arterial Hypertension via HGF/c-Met Signaling. Park CS, etal., Circ Res. 2022 Oct 28;131(10):792-806. doi: 10.1161/CIRCRESAHA.122.320845. Epub 2022 Oct 7.
13. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics. Sangam S, etal., Am J Respir Crit Care Med. 2023 Apr 15;207(8):1055-1069. doi: 10.1164/rccm.202203-0450OC.
18. SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension. Walters R, etal., Circulation. 2023 May 23;147(21):1606-1621. doi: 10.1161/CIRCULATIONAHA.122.061940. Epub 2023 Apr 17.
19. Upregulated miR-194-5p suppresses retinal microvascular endothelial cell dysfunction and mitigates the symptoms of hypertensive retinopathy in mice by targeting SOX17 and VEGF signaling. Wan Q, etal., Cell Cycle. 2023 Feb;22(3):331-346. doi: 10.1080/15384101.2022.2119514. Epub 2022 Oct 5.
20. SOX17 Loss-of-Function Mutation Underlying Familial Pulmonary Arterial Hypertension. Wang TM, etal., Int Heart J. 2021 May 29;62(3):566-574. doi: 10.1536/ihj.20-711. Epub 2021 May 1.
21. Dll4 Suppresses Transcytosis for Arterial Blood-Retinal Barrier Homeostasis. Yang JM, etal., Circ Res. 2020 Mar 13;126(6):767-783. doi: 10.1161/CIRCRESAHA.119.316476. Epub 2020 Feb 12.
22. Genome-wide association study of intracranial aneurysm identifies three new risk loci. Yasuno K, etal., Nat Genet. 2010 May;42(5):420-5. doi: 10.1038/ng.563. Epub 2010 Apr 4.
23. SOX17 loss-of-function variation underlying familial congenital heart disease. Zhao L, etal., Eur J Med Genet. 2021 May;64(5):104211. doi: 10.1016/j.ejmg.2021.104211. Epub 2021 Mar 29.
24. Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease. Zhu N, etal., Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x.
25. SOX17 is a Critical Factor in Maintaining Endothelial Function in Pulmonary Hypertension by an Exosome-Mediated Autocrine Manner. Zou X, etal., Adv Sci (Weinh). 2023 May;10(14):e2206139. doi: 10.1002/advs.202206139. Epub 2023 Mar 15.
Additional References at PubMed
PMID:11786926   PMID:12100890   PMID:12194848   PMID:12477932   PMID:14702039   PMID:15163629   PMID:16344560   PMID:17875931   PMID:18413743   PMID:18523156   PMID:18564921   PMID:18682240  
PMID:18940723   PMID:19274049   PMID:19301122   PMID:19369635   PMID:19549530   PMID:19736317   PMID:20716954   PMID:20960469   PMID:21305474   PMID:21362573   PMID:21457403   PMID:21514720  
PMID:21760905   PMID:21873635   PMID:21957254   PMID:22161215   PMID:22292085   PMID:22348788   PMID:22846201   PMID:22921431   PMID:23044318   PMID:23061670   PMID:23136251   PMID:23169777  
PMID:23241958   PMID:23403728   PMID:23474492   PMID:23813959   PMID:23918253   PMID:23999170   PMID:24097068   PMID:24407731   PMID:25053769   PMID:25106407   PMID:25291942   PMID:25310020  
PMID:25543152   PMID:25674225   PMID:25789956   PMID:25868860   PMID:25953442   PMID:25971583   PMID:26411902   PMID:26463399   PMID:26496610   PMID:26741346   PMID:26861571   PMID:27132888  
PMID:27738313   PMID:28132771   PMID:28148542   PMID:28237397   PMID:28381471   PMID:29458175   PMID:30527956   PMID:30777052   PMID:31073164   PMID:31148336   PMID:31405379   PMID:31444787  
PMID:31543512   PMID:31583686   PMID:31664088   PMID:31823782   PMID:31996362   PMID:32236579   PMID:32430478   PMID:32433020   PMID:32870805   PMID:33144185   PMID:33596423   PMID:33608411  
PMID:33632800   PMID:33739578   PMID:33852846   PMID:33928818   PMID:34339705   PMID:35124696   PMID:35140242   PMID:35380877   PMID:35390309   PMID:35618278   PMID:35881915   PMID:36310172  
PMID:37576970   PMID:37737027   PMID:38418875   PMID:38503291   PMID:38518781  


Genomics

Comparative Map Data
SOX17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38854,457,935 - 54,460,892 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl854,457,935 - 54,460,892 (+)EnsemblGRCh38hg38GRCh38
GRCh37855,370,495 - 55,373,452 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36855,533,048 - 55,536,009 (+)NCBINCBI36Build 36hg18NCBI36
Build 34855,533,047 - 55,535,484NCBI
Celera851,361,039 - 51,364,000 (+)NCBICelera
Cytogenetic Map8q11.23NCBI
HuRef850,838,617 - 50,841,578 (+)NCBIHuRef
CHM1_1855,422,260 - 55,425,221 (+)NCBICHM1_1
T2T-CHM13v2.0854,835,189 - 54,838,146 (+)NCBIT2T-CHM13v2.0
Sox17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914,561,154 - 4,567,624 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14,561,154 - 4,567,577 (-)EnsemblGRCm39 Ensembl
GRCm3814,490,928 - 4,497,426 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14,490,931 - 4,497,354 (-)EnsemblGRCm38mm10GRCm38
MGSCv3714,481,009 - 4,486,494 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614,481,009 - 4,486,494 (-)NCBIMGSCv36mm8
Celera14,507,797 - 4,513,282 (-)NCBICelera
Cytogenetic Map1A1NCBI
cM Map11.65NCBI
Sox17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8519,814,345 - 19,819,859 (+)NCBIGRCr8
mRatBN7.2515,016,660 - 15,022,228 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl515,016,731 - 15,022,228 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx517,215,894 - 17,221,391 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0518,819,700 - 18,825,180 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0518,550,534 - 18,556,035 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0514,890,318 - 14,895,907 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl514,890,408 - 14,895,907 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0519,675,563 - 19,681,084 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4515,241,405 - 15,246,904 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1515,244,440 - 15,246,899 (+)NCBI
Celera514,398,084 - 14,403,591 (+)NCBICelera
Cytogenetic Map5q12NCBI
Sox17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545413,689,403 - 13,690,019 (+)NCBIChiLan1.0ChiLan1.0
SOX17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2770,094,723 - 70,097,191 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1845,819,721 - 45,822,171 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0850,883,088 - 50,885,542 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1848,257,287 - 48,259,808 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl848,257,287 - 48,259,808 (+)Ensemblpanpan1.1panPan2
SOX17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1295,979,092 - 5,981,504 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl295,979,261 - 5,981,124 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha296,289,199 - 6,291,617 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0296,057,575 - 6,059,968 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl296,057,528 - 6,059,963 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1295,992,409 - 5,994,803 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0296,198,380 - 6,200,809 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0296,377,256 - 6,379,697 (+)NCBIUU_Cfam_GSD_1.0
Sox17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530373,534,065 - 73,536,600 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364961,248,577 - 1,251,430 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364961,248,582 - 1,251,406 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOX17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl476,854,150 - 76,857,148 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1476,854,218 - 76,857,143 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2483,968,236 - 83,971,155 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SOX17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1850,523,816 - 50,527,360 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl850,524,893 - 50,527,847 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603991,335,953 - 91,338,947 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sox17
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247351,276,302 - 1,279,181 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247351,276,382 - 1,278,584 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SOX17
185 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn) single nucleotide variant SOX17-related disorder [RCV003924848]|Vesicoureteral reflux 3 [RCV000001140]|not provided [RCV000895009]|not specified [RCV000430409] Chr8:54459525 [GRCh38]
Chr8:55372085 [GRCh37]
Chr8:8q11.23		 pathogenic|benign|likely benign|uncertain significance
NM_022454.4(SOX17):c.532G>T (p.Gly178Cys) single nucleotide variant Vesicoureteral reflux 3 [RCV000001141]|not provided [RCV000782261] Chr8:54459282 [GRCh38]
Chr8:55371842 [GRCh37]
Chr8:8q11.23		 pathogenic|likely benign|uncertain significance
SOX17, 6-BP INS, NT51 insertion Vesicoureteral reflux 3 [RCV000001142] Chr8:8q12-q13 pathogenic
NM_022454.4(SOX17):c.1223dup (p.Tyr408Ter) duplication not provided [RCV000722511] Chr8:54459972..54459973 [GRCh38]
Chr8:55372532..55372533 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q11.23-12.1(chr8:53996579-56163431)x1 copy number loss See cases [RCV000135764] Chr8:53996579..56163431 [GRCh38]
Chr8:54909139..57075990 [GRCh37]
Chr8:55071692..57238544 [NCBI36]
Chr8:8q11.23-12.1		 likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1		 pathogenic|likely pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23-12.1(chr8:54661151-57790737)x3 copy number gain See cases [RCV000445710] Chr8:54661151..57790737 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_022454.4(SOX17):c.489G>C (p.Gln163His) single nucleotide variant Inborn genetic diseases [RCV003300936] Chr8:54459239 [GRCh38]
Chr8:55371799 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.456G>C (p.Glu152Asp) single nucleotide variant Vesicoureteral reflux [RCV000626259] Chr8:54459206 [GRCh38]
Chr8:55371766 [GRCh37]
Chr8:8q11.23		 likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_022454.4(SOX17):c.807_808delinsAT (p.Met270Leu) indel not provided [RCV000722597] Chr8:54459557..54459558 [GRCh38]
Chr8:55372117..55372118 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q11.23(chr8:55365190-55384137)x1 copy number loss not provided [RCV000747575] Chr8:55365190..55384137 [GRCh37]
Chr8:8q11.23		 benign
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1		 pathogenic
NM_022454.4(SOX17):c.549C>T (p.Phe183=) single nucleotide variant Vesicoureteral reflux 3 [RCV002502881]|not provided [RCV000940910] Chr8:54459299 [GRCh38]
Chr8:55371859 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.1046G>T (p.Ser349Ile) single nucleotide variant not provided [RCV000762511] Chr8:54459796 [GRCh38]
Chr8:55372356 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.479C>T (p.Ala160Val) single nucleotide variant not provided [RCV000973698] Chr8:54459229 [GRCh38]
Chr8:55371789 [GRCh37]
Chr8:8q11.23		 benign
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
NM_022454.4(SOX17):c.499_520del (p.Leu167fs) deletion not provided [RCV001008583] Chr8:54459239..54459260 [GRCh38]
Chr8:55371799..55371820 [GRCh37]
Chr8:8q11.23		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_022454.4(SOX17):c.404A>G (p.Tyr135Cys) single nucleotide variant not provided [RCV001548224] Chr8:54459154 [GRCh38]
Chr8:55371714 [GRCh37]
Chr8:8q11.23		 likely pathogenic
NM_022454.4(SOX17):c.308-146C>A single nucleotide variant not provided [RCV001599064] Chr8:54458912 [GRCh38]
Chr8:55371472 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.308-80A>G single nucleotide variant not provided [RCV001684520] Chr8:54458978 [GRCh38]
Chr8:55371538 [GRCh37]
Chr8:8q11.23		 benign
NC_000008.11:g.54457917C>T single nucleotide variant not provided [RCV001619715] Chr8:54457917 [GRCh38]
Chr8:55370477 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.685G>C (p.Gly229Arg) single nucleotide variant not provided [RCV002284677] Chr8:54459435 [GRCh38]
Chr8:55371995 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.467T>C (p.Leu156Pro) single nucleotide variant not provided [RCV001717956] Chr8:54459217 [GRCh38]
Chr8:55371777 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.273A>T (p.Pro91=) single nucleotide variant SOX17-related disorder [RCV003930786]|not provided [RCV000890770] Chr8:54458411 [GRCh38]
Chr8:55370971 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.308-9A>G single nucleotide variant not provided [RCV000934307] Chr8:54459049 [GRCh38]
Chr8:55371609 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.867A>T (p.Pro289=) single nucleotide variant not provided [RCV001730271] Chr8:54459617 [GRCh38]
Chr8:55372177 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.307+149C>T single nucleotide variant not provided [RCV001675104] Chr8:54458594 [GRCh38]
Chr8:55371154 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.308-140T>C single nucleotide variant not provided [RCV001678285] Chr8:54458918 [GRCh38]
Chr8:55371478 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.307+75_307+76insAG insertion not provided [RCV001673865] Chr8:54458520..54458521 [GRCh38]
Chr8:55371080..55371081 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.954GCACCA[5] (p.316QH[6]) microsatellite Chronic kidney disease [RCV001171360]|SOX17-related disorder [RCV003938542]|not provided [RCV002068051] Chr8:54459698..54459699 [GRCh38]
Chr8:55372258..55372259 [GRCh37]
Chr8:8q11.23		 benign|likely benign|uncertain significance
NC_000008.10:g.(?_54978308)_(56436786_?)dup duplication not provided [RCV001033025] Chr8:54978308..56436786 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_022454.4(SOX17):c.373C>A (p.Arg125Ser) single nucleotide variant not provided [RCV001323897] Chr8:54459123 [GRCh38]
Chr8:55371683 [GRCh37]
Chr8:8q11.23		 uncertain significance
NC_000008.10:g.(?_54978308)_(56436786_?)dup duplication not provided [RCV001323424] Chr8:54978308..56436786 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
NM_022454.4(SOX17):c.770C>T (p.Ser257Leu) single nucleotide variant not provided [RCV001355802] Chr8:54459520 [GRCh38]
Chr8:55372080 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.-80C>T single nucleotide variant not provided [RCV001717375] Chr8:54458059 [GRCh38]
Chr8:55370619 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.464T>G (p.Phe155Cys) single nucleotide variant not provided [RCV001755541] Chr8:54459214 [GRCh38]
Chr8:55371774 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1084G>C (p.Glu362Gln) single nucleotide variant not provided [RCV001755656] Chr8:54459834 [GRCh38]
Chr8:55372394 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1223A>G (p.Tyr408Cys) single nucleotide variant not provided [RCV001971058] Chr8:54459973 [GRCh38]
Chr8:55372533 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.366G>C (p.Glu122Asp) single nucleotide variant Vesicoureteral reflux 3 [RCV001839265] Chr8:54459116 [GRCh38]
Chr8:55371676 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.284A>G (p.Asn95Ser) single nucleotide variant not provided [RCV001984997] Chr8:54458422 [GRCh38]
Chr8:55370982 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.192C>T (p.Gly64=) single nucleotide variant not provided [RCV001945684] Chr8:54458330 [GRCh38]
Chr8:55370890 [GRCh37]
Chr8:8q11.23		 uncertain significance
NC_000008.10:g.(?_55370699)_(55372555_?)del deletion not provided [RCV001992484] Chr8:55370699..55372555 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.523G>A (p.Ala175Thr) single nucleotide variant not provided [RCV002209084] Chr8:54459273 [GRCh38]
Chr8:55371833 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.948A>G (p.Gln316=) single nucleotide variant Vesicoureteral reflux 3 [RCV002494243]|not provided [RCV002109395] Chr8:54459698 [GRCh38]
Chr8:55372258 [GRCh37]
Chr8:8q11.23		 benign|likely benign
NM_022454.4(SOX17):c.585G>T (p.Leu195=) single nucleotide variant SOX17-related disorder [RCV003903403]|Vesicoureteral reflux 3 [RCV002500026]|not provided [RCV002115984] Chr8:54459335 [GRCh38]
Chr8:55371895 [GRCh37]
Chr8:8q11.23		 benign|likely benign
NM_022454.4(SOX17):c.954GCACCA[6] (p.316QH[7]) microsatellite SOX17-related disorder [RCV003933374]|not provided [RCV002088420] Chr8:54459698..54459699 [GRCh38]
Chr8:55372258..55372259 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.654G>A (p.Pro218=) single nucleotide variant Vesicoureteral reflux 3 [RCV002480993]|not provided [RCV002128797] Chr8:54459404 [GRCh38]
Chr8:55371964 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.1002G>C (p.Ser334=) single nucleotide variant not provided [RCV002107749] Chr8:54459752 [GRCh38]
Chr8:55372312 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.57G>C (p.Ala19=) single nucleotide variant Vesicoureteral reflux 3 [RCV005042745]|not provided [RCV002151743] Chr8:54458195 [GRCh38]
Chr8:55370755 [GRCh37]
Chr8:8q11.23		 likely benign|uncertain significance
NM_022454.4(SOX17):c.314C>A (p.Ser105Ter) single nucleotide variant Pulmonary arterial hypertension [RCV002077365] Chr8:54459064 [GRCh38]
Chr8:55371624 [GRCh37]
Chr8:8q11.23		 pathogenic
NM_022454.4(SOX17):c.1206C>G (p.Ala402=) single nucleotide variant Vesicoureteral reflux 3 [RCV002500235]|not provided [RCV002124185] Chr8:54459956 [GRCh38]
Chr8:55372516 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.1128C>T (p.Gly376=) single nucleotide variant not provided [RCV002083047] Chr8:54459878 [GRCh38]
Chr8:55372438 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.98C>A (p.Ala33Asp) single nucleotide variant not provided [RCV002136878] Chr8:54458236 [GRCh38]
Chr8:55370796 [GRCh37]
Chr8:8q11.23		 benign|likely benign
NM_022454.4(SOX17):c.948_953dup (p.His325_His326insGlnHis) duplication Vesicoureteral reflux 3 [RCV005047439]|not provided [RCV003149400] Chr8:54459695..54459696 [GRCh38]
Chr8:55372255..55372256 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.248G>A (p.Arg83His) single nucleotide variant not provided [RCV003156690] Chr8:54458386 [GRCh38]
Chr8:55370946 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.807C>A (p.Pro269=) single nucleotide variant not provided [RCV002512355] Chr8:54459557 [GRCh38]
Chr8:55372117 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.892G>A (p.Gly298Ser) single nucleotide variant Inborn genetic diseases [RCV002749648]|not provided [RCV005059438] Chr8:54459642 [GRCh38]
Chr8:55372202 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.524C>A (p.Ala175Asp) single nucleotide variant not provided [RCV002461683] Chr8:54459274 [GRCh38]
Chr8:55371834 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.578C>T (p.Pro193Leu) single nucleotide variant Inborn genetic diseases [RCV002683151] Chr8:54459328 [GRCh38]
Chr8:55371888 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1133C>T (p.Pro378Leu) single nucleotide variant Inborn genetic diseases [RCV002729823] Chr8:54459883 [GRCh38]
Chr8:55372443 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.241G>A (p.Asp81Asn) single nucleotide variant Inborn genetic diseases [RCV002879726] Chr8:54458379 [GRCh38]
Chr8:55370939 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1166C>T (p.Pro389Leu) single nucleotide variant SOX17-related disorder [RCV003418685]|not provided [RCV002967606] Chr8:54459916 [GRCh38]
Chr8:55372476 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.757T>A (p.Tyr253Asn) single nucleotide variant Inborn genetic diseases [RCV002774424] Chr8:54459507 [GRCh38]
Chr8:55372067 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.808A>T (p.Met270Leu) single nucleotide variant not provided [RCV002512356] Chr8:54459558 [GRCh38]
Chr8:55372118 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.1053C>A (p.Pro351=) single nucleotide variant not provided [RCV002952508] Chr8:54459803 [GRCh38]
Chr8:55372363 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.164C>T (p.Pro55Leu) single nucleotide variant not provided [RCV003079086] Chr8:54458302 [GRCh38]
Chr8:55370862 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.471C>A (p.His157Gln) single nucleotide variant Inborn genetic diseases [RCV002661129] Chr8:54459221 [GRCh38]
Chr8:55371781 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.308-19C>A single nucleotide variant not provided [RCV002781216] Chr8:54459039 [GRCh38]
Chr8:55371599 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.307+11G>C single nucleotide variant not provided [RCV003035723] Chr8:54458456 [GRCh38]
Chr8:55371016 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.57G>T (p.Ala19=) single nucleotide variant not provided [RCV002870990] Chr8:54458195 [GRCh38]
Chr8:55370755 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.308-19C>G single nucleotide variant not provided [RCV002592729] Chr8:54459039 [GRCh38]
Chr8:55371599 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.586C>T (p.Pro196Ser) single nucleotide variant Inborn genetic diseases [RCV002758858]|Vesicoureteral reflux 3 [RCV005051254]|not provided [RCV005099175] Chr8:54459336 [GRCh38]
Chr8:55371896 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.957C>G (p.His319Gln) single nucleotide variant Inborn genetic diseases [RCV002739683] Chr8:54459707 [GRCh38]
Chr8:55372267 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.565C>T (p.Pro189Ser) single nucleotide variant not provided [RCV002622399] Chr8:54459315 [GRCh38]
Chr8:55371875 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.591G>C (p.Pro197=) single nucleotide variant SOX17-related disorder [RCV003963479]|not provided [RCV002958372] Chr8:54459341 [GRCh38]
Chr8:55371901 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.1075G>T (p.Asp359Tyr) single nucleotide variant not provided [RCV002663871] Chr8:54459825 [GRCh38]
Chr8:55372385 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.243C>G (p.Asp81Glu) single nucleotide variant not provided [RCV002928668] Chr8:54458381 [GRCh38]
Chr8:55370941 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.417G>A (p.Pro139=) single nucleotide variant SOX17-related disorder [RCV003953850]|not provided [RCV003083392] Chr8:54459167 [GRCh38]
Chr8:55371727 [GRCh37]
Chr8:8q11.23		 benign|likely benign
NM_022454.4(SOX17):c.954GCACCA[2] (p.316QH[3]) microsatellite not provided [RCV002800909] Chr8:54459699..54459710 [GRCh38]
Chr8:55372259..55372270 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.117C>T (p.Ile39=) single nucleotide variant not provided [RCV002647549] Chr8:54458255 [GRCh38]
Chr8:55370815 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.170G>A (p.Gly57Glu) single nucleotide variant Inborn genetic diseases [RCV002896988] Chr8:54458308 [GRCh38]
Chr8:55370868 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.756C>G (p.Ser252Arg) single nucleotide variant Inborn genetic diseases [RCV004673741]|not provided [RCV002938486] Chr8:54459506 [GRCh38]
Chr8:55372066 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.214A>T (p.Met72Leu) single nucleotide variant Inborn genetic diseases [RCV002669710] Chr8:54458352 [GRCh38]
Chr8:55370912 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.732C>T (p.Asp244=) single nucleotide variant not provided [RCV002900301] Chr8:54459482 [GRCh38]
Chr8:55372042 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.982C>G (p.Pro328Ala) single nucleotide variant Inborn genetic diseases [RCV002965019]|Vesicoureteral reflux 3 [RCV005047361]|not provided [RCV003434648] Chr8:54459732 [GRCh38]
Chr8:55372292 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.581T>C (p.Leu194Pro) single nucleotide variant not provided [RCV002922377] Chr8:54459331 [GRCh38]
Chr8:55371891 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1077C>G (p.Asp359Glu) single nucleotide variant not provided [RCV002900335] Chr8:54459827 [GRCh38]
Chr8:55372387 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.625C>G (p.Leu209Val) single nucleotide variant Vesicoureteral reflux 3 [RCV005042917]|not provided [RCV002604471] Chr8:54459375 [GRCh38]
Chr8:55371935 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.913G>A (p.Ala305Thr) single nucleotide variant Inborn genetic diseases [RCV004963913]|Vesicoureteral reflux 3 [RCV005051500] Chr8:54459663 [GRCh38]
Chr8:55372223 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.817C>G (p.Arg273Gly) single nucleotide variant not provided [RCV003052058] Chr8:54459567 [GRCh38]
Chr8:55372127 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.633G>T (p.Ala211=) single nucleotide variant SOX17-related disorder [RCV003963578]|not provided [RCV003051508] Chr8:54459383 [GRCh38]
Chr8:55371943 [GRCh37]
Chr8:8q11.23		 benign|likely benign
NM_022454.4(SOX17):c.766G>T (p.Val256Phe) single nucleotide variant not provided [RCV002587088] Chr8:54459516 [GRCh38]
Chr8:55372076 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1059G>A (p.Glu353=) single nucleotide variant not provided [RCV002587168] Chr8:54459809 [GRCh38]
Chr8:55372369 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.788C>T (p.Pro263Leu) single nucleotide variant SOX17-related disorder [RCV003936434]|not provided [RCV002942727] Chr8:54459538 [GRCh38]
Chr8:55372098 [GRCh37]
Chr8:8q11.23		 benign|likely benign
NM_022454.4(SOX17):c.595A>T (p.Met199Leu) single nucleotide variant not provided [RCV002611886] Chr8:54459345 [GRCh38]
Chr8:55371905 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.660C>T (p.Pro220=) single nucleotide variant not provided [RCV002589647] Chr8:54459410 [GRCh38]
Chr8:55371970 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.502G>T (p.Gly168Cys) single nucleotide variant Inborn genetic diseases [RCV003173975] Chr8:54459252 [GRCh38]
Chr8:55371812 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.488A>C (p.Gln163Pro) single nucleotide variant Inborn genetic diseases [RCV003302463] Chr8:54459238 [GRCh38]
Chr8:55371798 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.493G>A (p.Ala165Thr) single nucleotide variant Inborn genetic diseases [RCV003302465] Chr8:54459243 [GRCh38]
Chr8:55371803 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.510G>C (p.Glu170Asp) single nucleotide variant Inborn genetic diseases [RCV003302466] Chr8:54459260 [GRCh38]
Chr8:55371820 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.488A>G (p.Gln163Arg) single nucleotide variant Inborn genetic diseases [RCV003283666] Chr8:54459238 [GRCh38]
Chr8:55371798 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.719C>T (p.Pro240Leu) single nucleotide variant Inborn genetic diseases [RCV003194472] Chr8:54459469 [GRCh38]
Chr8:55372029 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.856C>A (p.Leu286Ile) single nucleotide variant not provided [RCV003334310] Chr8:54459606 [GRCh38]
Chr8:55372166 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.167C>A (p.Ala56Asp) single nucleotide variant Inborn genetic diseases [RCV003372512]|Vesicoureteral reflux 3 [RCV005047558] Chr8:54458305 [GRCh38]
Chr8:55370865 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.569C>T (p.Ala190Val) single nucleotide variant Inborn genetic diseases [RCV003364735] Chr8:54459319 [GRCh38]
Chr8:55371879 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.632C>T (p.Ala211Val) single nucleotide variant Inborn genetic diseases [RCV003367859] Chr8:54459382 [GRCh38]
Chr8:55371942 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.208C>G (p.Arg70Gly) single nucleotide variant Sox17- related disorders [RCV003335935] Chr8:54458346 [GRCh38]
Chr8:55370906 [GRCh37]
Chr8:8q11.23		 likely pathogenic
NM_022454.4(SOX17):c.316T>G (p.Trp106Gly) single nucleotide variant not provided [RCV003570782] Chr8:54459066 [GRCh38]
Chr8:55371626 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.245A>G (p.Glu82Gly) single nucleotide variant Vesicoureteral reflux 3 [RCV003484559] Chr8:54458383 [GRCh38]
Chr8:55370943 [GRCh37]
Chr8:8q11.23		 likely pathogenic
NM_022454.4(SOX17):c.501G>A (p.Leu167=) single nucleotide variant not provided [RCV003435496] Chr8:54459251 [GRCh38]
Chr8:55371811 [GRCh37]
Chr8:8q11.23		 likely benign
NC_000008.11:g.54466866G>A single nucleotide variant not provided [RCV003435498] Chr8:54466866 [GRCh38]
Chr8:55379426 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.762G>A (p.Ala254=) single nucleotide variant not provided [RCV003435497] Chr8:54459512 [GRCh38]
Chr8:55372072 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.342_343delinsTT (p.Lys114_Arg115delinsAsnTrp) indel not provided [RCV003435495] Chr8:54459092..54459093 [GRCh38]
Chr8:55371652..55371653 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.51G>T (p.Gln17His) single nucleotide variant SOX17-related disorder [RCV003421100] Chr8:54458189 [GRCh38]
Chr8:55370749 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.331C>T (p.Leu111=) single nucleotide variant not provided [RCV003849228] Chr8:54459081 [GRCh38]
Chr8:55371641 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.221C>T (p.Ala74Val) single nucleotide variant not provided [RCV003690056] Chr8:54458359 [GRCh38]
Chr8:55370919 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.954GCACCA[3] (p.316QH[4]) microsatellite not provided [RCV003688441] Chr8:54459699..54459704 [GRCh38]
Chr8:55372259..55372264 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.451G>A (p.Val151Met) single nucleotide variant not provided [RCV003697810] Chr8:54459201 [GRCh38]
Chr8:55371761 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.623G>A (p.Ser208Asn) single nucleotide variant not provided [RCV003832560] Chr8:54459373 [GRCh38]
Chr8:55371933 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.307+20C>A single nucleotide variant not provided [RCV003817640] Chr8:54458465 [GRCh38]
Chr8:55371025 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.801C>G (p.Ala267=) single nucleotide variant not provided [RCV003724795] Chr8:54459551 [GRCh38]
Chr8:55372111 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.477G>A (p.Leu159=) single nucleotide variant not provided [RCV003550529] Chr8:54459227 [GRCh38]
Chr8:55371787 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.471C>T (p.His157=) single nucleotide variant not provided [RCV003733911] Chr8:54459221 [GRCh38]
Chr8:55371781 [GRCh37]
Chr8:8q11.23		 benign
NM_022454.4(SOX17):c.308-18C>G single nucleotide variant not provided [RCV003820582] Chr8:54459040 [GRCh38]
Chr8:55371600 [GRCh37]
Chr8:8q11.23		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
NM_022454.4(SOX17):c.846G>T (p.Ser282=) single nucleotide variant not provided [RCV003867636] Chr8:54459596 [GRCh38]
Chr8:55372156 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.749C>T (p.Thr250Ile) single nucleotide variant not provided [RCV003866907] Chr8:54459499 [GRCh38]
Chr8:55372059 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.684C>T (p.Asp228=) single nucleotide variant not provided [RCV003554470] Chr8:54459434 [GRCh38]
Chr8:55371994 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.954GCACCA[7] (p.His325_His326insGlnHisGlnHisGlnHis) microsatellite not provided [RCV003842700] Chr8:54459698..54459699 [GRCh38]
Chr8:55372258..55372259 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.566C>A (p.Pro189His) single nucleotide variant Vesicoureteral reflux 3 [RCV005051369]|not provided [RCV003720072] Chr8:54459316 [GRCh38]
Chr8:55371876 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.495C>G (p.Ala165=) single nucleotide variant not provided [RCV003869096] Chr8:54459245 [GRCh38]
Chr8:55371805 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.634C>T (p.Pro212Ser) single nucleotide variant not provided [RCV003722149] Chr8:54459384 [GRCh38]
Chr8:55371944 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.987C>T (p.Gly329=) single nucleotide variant not provided [RCV003721621] Chr8:54459737 [GRCh38]
Chr8:55372297 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.785C>A (p.Pro262His) single nucleotide variant Inborn genetic diseases [RCV004968477]|not provided [RCV003820063] Chr8:54459535 [GRCh38]
Chr8:55372095 [GRCh37]
Chr8:8q11.23		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_022454.4(SOX17):c.911G>C (p.Gly304Ala) single nucleotide variant not provided [RCV003556876] Chr8:54459661 [GRCh38]
Chr8:55372221 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.416C>G (p.Pro139Arg) single nucleotide variant not provided [RCV003565370] Chr8:54459166 [GRCh38]
Chr8:55371726 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.499C>G (p.Leu167Val) single nucleotide variant Vesicoureteral reflux 3 [RCV005040481]|not provided [RCV003732124] Chr8:54459249 [GRCh38]
Chr8:55371809 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.750C>T (p.Thr250=) single nucleotide variant not provided [RCV003886860] Chr8:54459500 [GRCh38]
Chr8:55372060 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.782G>C (p.Gly261Ala) single nucleotide variant SOX17-related disorder [RCV003924723] Chr8:54459532 [GRCh38]
Chr8:55372092 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.981C>G (p.Pro327=) single nucleotide variant SOX17-related disorder [RCV003897146] Chr8:54459731 [GRCh38]
Chr8:55372291 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.646G>T (p.Gly216Cys) single nucleotide variant not provided [RCV004546946] Chr8:54459396 [GRCh38]
Chr8:55371956 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1020G>C (p.Leu340=) single nucleotide variant SOX17-related disorder [RCV003893763] Chr8:54459770 [GRCh38]
Chr8:55372330 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.534C>T (p.Gly178=) single nucleotide variant SOX17-related disorder [RCV003896452] Chr8:54459284 [GRCh38]
Chr8:55371844 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.1142G>C (p.Gly381Ala) single nucleotide variant Inborn genetic diseases [RCV004457583] Chr8:54459892 [GRCh38]
Chr8:55372452 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.574C>T (p.Pro192Ser) single nucleotide variant Inborn genetic diseases [RCV004457586]|Vesicoureteral reflux 3 [RCV005051441] Chr8:54459324 [GRCh38]
Chr8:55371884 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.564C>A (p.Phe188Leu) single nucleotide variant Inborn genetic diseases [RCV004457585] Chr8:54459314 [GRCh38]
Chr8:55371874 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1097A>G (p.Tyr366Cys) single nucleotide variant Inborn genetic diseases [RCV004457581] Chr8:54459847 [GRCh38]
Chr8:55372407 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1106T>C (p.Phe369Ser) single nucleotide variant Inborn genetic diseases [RCV004457582] Chr8:54459856 [GRCh38]
Chr8:55372416 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.532G>A (p.Gly178Ser) single nucleotide variant Inborn genetic diseases [RCV004457584] Chr8:54459282 [GRCh38]
Chr8:55371842 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.58C>G (p.Leu20Val) single nucleotide variant Inborn genetic diseases [RCV004457587] Chr8:54458196 [GRCh38]
Chr8:55370756 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.996G>C (p.Gln332His) single nucleotide variant Inborn genetic diseases [RCV004457588] Chr8:54459746 [GRCh38]
Chr8:55372306 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.756C>A (p.Ser252Arg) single nucleotide variant Inborn genetic diseases [RCV004670643] Chr8:54459506 [GRCh38]
Chr8:55372066 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.303G>T (p.Met101Ile) single nucleotide variant Inborn genetic diseases [RCV004670644] Chr8:54458441 [GRCh38]
Chr8:55371001 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.659C>T (p.Pro220Leu) single nucleotide variant Inborn genetic diseases [RCV004670645] Chr8:54459409 [GRCh38]
Chr8:55371969 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.647G>C (p.Gly216Ala) single nucleotide variant Inborn genetic diseases [RCV004670646] Chr8:54459397 [GRCh38]
Chr8:55371957 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.910G>C (p.Gly304Arg) single nucleotide variant Inborn genetic diseases [RCV004963914] Chr8:54459660 [GRCh38]
Chr8:55372220 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.469C>T (p.His157Tyr) single nucleotide variant Inborn genetic diseases [RCV004963912] Chr8:54459219 [GRCh38]
Chr8:55371779 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.121G>T (p.Asp41Tyr) single nucleotide variant Vesicoureteral reflux 3 [RCV005041228] Chr8:54458259 [GRCh38]
Chr8:55370819 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.662C>A (p.Thr221Lys) single nucleotide variant Vesicoureteral reflux 3 [RCV005041238] Chr8:54459412 [GRCh38]
Chr8:55371972 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.911G>A (p.Gly304Glu) single nucleotide variant Vesicoureteral reflux 3 [RCV005041251] Chr8:54459661 [GRCh38]
Chr8:55372221 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.727G>A (p.Gly243Arg) single nucleotide variant Vesicoureteral reflux 3 [RCV005041244] Chr8:54459477 [GRCh38]
Chr8:55372037 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.671C>T (p.Thr224Met) single nucleotide variant Vesicoureteral reflux 3 [RCV005041239] Chr8:54459421 [GRCh38]
Chr8:55371981 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.478G>A (p.Ala160Thr) single nucleotide variant Vesicoureteral reflux 3 [RCV005041234] Chr8:54459228 [GRCh38]
Chr8:55371788 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1154G>C (p.Gly385Ala) single nucleotide variant Vesicoureteral reflux 3 [RCV005041259] Chr8:54459904 [GRCh38]
Chr8:55372464 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.966G>C (p.Gln322His) single nucleotide variant Vesicoureteral reflux 3 [RCV005041254] Chr8:54459716 [GRCh38]
Chr8:55372276 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.956A>G (p.His319Arg) single nucleotide variant Vesicoureteral reflux 3 [RCV005041253] Chr8:54459706 [GRCh38]
Chr8:55372266 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.953A>C (p.Gln318Pro) single nucleotide variant Vesicoureteral reflux 3 [RCV005041252] Chr8:54459703 [GRCh38]
Chr8:55372263 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.566C>T (p.Pro189Leu) single nucleotide variant Vesicoureteral reflux 3 [RCV005041236] Chr8:54459316 [GRCh38]
Chr8:55371876 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.982C>A (p.Pro328Thr) single nucleotide variant Vesicoureteral reflux 3 [RCV005041256] Chr8:54459732 [GRCh38]
Chr8:55372292 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.874G>A (p.Ala292Thr) single nucleotide variant Vesicoureteral reflux 3 [RCV005041248] Chr8:54459624 [GRCh38]
Chr8:55372184 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.719C>G (p.Pro240Arg) single nucleotide variant Vesicoureteral reflux 3 [RCV005041243] Chr8:54459469 [GRCh38]
Chr8:55372029 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1184T>G (p.Ile395Ser) single nucleotide variant Vesicoureteral reflux 3 [RCV005041260] Chr8:54459934 [GRCh38]
Chr8:55372494 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.973C>T (p.His325Tyr) single nucleotide variant Vesicoureteral reflux 3 [RCV005041255] Chr8:54459723 [GRCh38]
Chr8:55372283 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.89G>A (p.Cys30Tyr) single nucleotide variant Vesicoureteral reflux 3 [RCV005041227] Chr8:54458227 [GRCh38]
Chr8:55370787 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.385A>T (p.Met129Leu) single nucleotide variant Vesicoureteral reflux 3 [RCV005041231] Chr8:54459135 [GRCh38]
Chr8:55371695 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.875C>T (p.Ala292Val) single nucleotide variant Vesicoureteral reflux 3 [RCV005041249] Chr8:54459625 [GRCh38]
Chr8:55372185 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.691G>A (p.Asp231Asn) single nucleotide variant Vesicoureteral reflux 3 [RCV005041241] Chr8:54459441 [GRCh38]
Chr8:55372001 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.686G>A (p.Gly229Asp) single nucleotide variant Vesicoureteral reflux 3 [RCV005041240] Chr8:54459436 [GRCh38]
Chr8:55371996 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.461G>A (p.Gly154Asp) single nucleotide variant Vesicoureteral reflux 3 [RCV005041232] Chr8:54459211 [GRCh38]
Chr8:55371771 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.902G>A (p.Gly301Asp) single nucleotide variant Vesicoureteral reflux 3 [RCV005041250]|not provided [RCV005063325] Chr8:54459652 [GRCh38]
Chr8:55372212 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1108G>C (p.Val370Leu) single nucleotide variant Vesicoureteral reflux 3 [RCV005041257] Chr8:54459858 [GRCh38]
Chr8:55372418 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.863C>T (p.Ala288Val) single nucleotide variant Vesicoureteral reflux 3 [RCV005041247] Chr8:54459613 [GRCh38]
Chr8:55372173 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.814C>A (p.Pro272Thr) single nucleotide variant Vesicoureteral reflux 3 [RCV005041246] Chr8:54459564 [GRCh38]
Chr8:55372124 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1113C>G (p.Cys371Trp) single nucleotide variant Vesicoureteral reflux 3 [RCV005041258] Chr8:54459863 [GRCh38]
Chr8:55372423 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.659C>G (p.Pro220Arg) single nucleotide variant Vesicoureteral reflux 3 [RCV005041237] Chr8:54459409 [GRCh38]
Chr8:55371969 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.370C>T (p.Leu124=) single nucleotide variant Vesicoureteral reflux 3 [RCV005041230] Chr8:54459120 [GRCh38]
Chr8:55371680 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.704C>A (p.Ala235Asp) single nucleotide variant Vesicoureteral reflux 3 [RCV005041242] Chr8:54459454 [GRCh38]
Chr8:55372014 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.517C>A (p.Arg173Ser) single nucleotide variant Vesicoureteral reflux 3 [RCV005041235] Chr8:54459267 [GRCh38]
Chr8:55371827 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.472G>T (p.Gly158Cys) single nucleotide variant Vesicoureteral reflux 3 [RCV005041233] Chr8:54459222 [GRCh38]
Chr8:55371782 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.809T>C (p.Met270Thr) single nucleotide variant Vesicoureteral reflux 3 [RCV005041245] Chr8:54459559 [GRCh38]
Chr8:55372119 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.556C>T (p.Gln186Ter) single nucleotide variant not provided [RCV005196590] Chr8:54459306 [GRCh38]
Chr8:55371866 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.495C>T (p.Ala165=) single nucleotide variant not provided [RCV005088090] Chr8:54459245 [GRCh38]
Chr8:55371805 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.1181C>T (p.Ala394Val) single nucleotide variant Vesicoureteral reflux 3 [RCV005051646] Chr8:54459931 [GRCh38]
Chr8:55372491 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.859C>G (p.Leu287Val) single nucleotide variant Vesicoureteral reflux 3 [RCV005051645] Chr8:54459609 [GRCh38]
Chr8:55372169 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.643G>A (p.Asp215Asn) single nucleotide variant Vesicoureteral reflux 3 [RCV005051644] Chr8:54459393 [GRCh38]
Chr8:55371953 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.531C>G (p.Asp177Glu) single nucleotide variant Vesicoureteral reflux 3 [RCV005051642] Chr8:54459281 [GRCh38]
Chr8:55371841 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.308-14C>A single nucleotide variant Vesicoureteral reflux 3 [RCV005051637] Chr8:54459044 [GRCh38]
Chr8:55371604 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.756C>T (p.Ser252=) single nucleotide variant not provided [RCV005087878] Chr8:54459506 [GRCh38]
Chr8:55372066 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.100G>A (p.Glu34Lys) single nucleotide variant Vesicoureteral reflux 3 [RCV005051633] Chr8:54458238 [GRCh38]
Chr8:55370798 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.572G>T (p.Gly191Val) single nucleotide variant Vesicoureteral reflux 3 [RCV005051643] Chr8:54459322 [GRCh38]
Chr8:55371882 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.876C>G (p.Ala292=) single nucleotide variant not provided [RCV005066556] Chr8:54459626 [GRCh38]
Chr8:55372186 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.493G>T (p.Ala165Ser) single nucleotide variant Vesicoureteral reflux 3 [RCV005051641] Chr8:54459243 [GRCh38]
Chr8:55371803 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.485C>T (p.Pro162Leu) single nucleotide variant Vesicoureteral reflux 3 [RCV005051640] Chr8:54459235 [GRCh38]
Chr8:55371795 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.353T>C (p.Val118Ala) single nucleotide variant Vesicoureteral reflux 3 [RCV005051639] Chr8:54459103 [GRCh38]
Chr8:55371663 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.332T>A (p.Leu111Gln) single nucleotide variant Vesicoureteral reflux 3 [RCV005051638] Chr8:54459082 [GRCh38]
Chr8:55371642 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.945G>T (p.Pro315=) single nucleotide variant not provided [RCV005171539] Chr8:54459695 [GRCh38]
Chr8:55372255 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.508G>A (p.Glu170Lys) single nucleotide variant not provided [RCV005084669] Chr8:54459258 [GRCh38]
Chr8:55371818 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.42C>A (p.Ser14Arg) single nucleotide variant Vesicoureteral reflux 3 [RCV005051632] Chr8:54458180 [GRCh38]
Chr8:55370740 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.251A>G (p.Lys84Arg) single nucleotide variant Vesicoureteral reflux 3 [RCV005051636] Chr8:54458389 [GRCh38]
Chr8:55370949 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.196T>C (p.Ser66Pro) single nucleotide variant Vesicoureteral reflux 3 [RCV005051635] Chr8:54458334 [GRCh38]
Chr8:55370894 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.169G>C (p.Gly57Arg) single nucleotide variant Vesicoureteral reflux 3 [RCV005051634] Chr8:54458307 [GRCh38]
Chr8:55370867 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.567C>T (p.Pro189=) single nucleotide variant not provided [RCV005191174] Chr8:54459317 [GRCh38]
Chr8:55371877 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.377T>G (p.Val126Gly) single nucleotide variant not provided [RCV005198150] Chr8:54459127 [GRCh38]
Chr8:55371687 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.765G>A (p.Gln255=) single nucleotide variant not provided [RCV005072994] Chr8:54459515 [GRCh38]
Chr8:55372075 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.244G>A (p.Glu82Lys) single nucleotide variant not provided [RCV005161506] Chr8:54458382 [GRCh38]
Chr8:55370942 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1107C>T (p.Phe369=) single nucleotide variant not provided [RCV005185493] Chr8:54459857 [GRCh38]
Chr8:55372417 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.1203C>T (p.Asp401=) single nucleotide variant not provided [RCV005187647] Chr8:54459953 [GRCh38]
Chr8:55372513 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.566C>G (p.Pro189Arg) single nucleotide variant not provided [RCV005138916] Chr8:54459316 [GRCh38]
Chr8:55371876 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.1224C>T (p.Tyr408=) single nucleotide variant not provided [RCV005194732] Chr8:54459974 [GRCh38]
Chr8:55372534 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.1053C>T (p.Pro351=) single nucleotide variant not provided [RCV005076231] Chr8:54459803 [GRCh38]
Chr8:55372363 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.1056C>G (p.Ala352=) single nucleotide variant not provided [RCV005192246] Chr8:54459806 [GRCh38]
Chr8:55372366 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.944C>G (p.Pro315Arg) single nucleotide variant not provided [RCV005197605] Chr8:54459694 [GRCh38]
Chr8:55372254 [GRCh37]
Chr8:8q11.23		 uncertain significance
NM_022454.4(SOX17):c.129G>A (p.Lys43=) single nucleotide variant not provided [RCV005075378] Chr8:54458267 [GRCh38]
Chr8:55370827 [GRCh37]
Chr8:8q11.23		 likely benign
NM_022454.4(SOX17):c.837G>T (p.Ala279=) single nucleotide variant not provided [RCV005151434] Chr8:54459587 [GRCh38]
Chr8:55372147 [GRCh37]
Chr8:8q11.23		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:295
Count of miRNA genes:259
Interacting mature miRNAs:271
Transcripts:ENST00000297316
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
2289597BW470_HBody weight QTL 470 (human)1.3Body weightBMI83977088765770887Human

Markers in Region
RH93135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37855,372,753 - 55,372,905UniSTSGRCh37
Build 36855,535,306 - 55,535,458RGDNCBI36
Celera851,363,297 - 51,363,449RGD
Cytogenetic Map8q11.23UniSTS
HuRef850,840,875 - 50,841,027UniSTS
GeneMap99-GB4 RH Map8302.57UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2319 2788 2229 4806 1703 2159 4 610 1142 450 2166 6371 5661 25 3657 1 811 1697 1442 166 1

Sequence


Ensembl Acc Id: ENST00000297316   ⟹   ENSP00000297316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl854,457,935 - 54,460,892 (+)Ensembl
RefSeq Acc Id: NM_022454   ⟹   NP_071899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38854,457,935 - 54,460,892 (+)NCBI
GRCh37855,370,495 - 55,373,456 (+)ENTREZGENE
Build 36855,533,048 - 55,536,009 (+)NCBI Archive
HuRef850,838,617 - 50,841,578 (+)ENTREZGENE
CHM1_1855,422,260 - 55,425,221 (+)NCBI
T2T-CHM13v2.0854,835,189 - 54,838,146 (+)NCBI
Sequence:
RefSeq Acc Id: NP_071899   ⟸   NM_022454
- UniProtKB: Q9H6I2 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000297316   ⟸   ENST00000297316
Protein Domains
HMG box   Sox C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H6I2-F1-model_v2 AlphaFold Q9H6I2 1-414 view protein structure

Promoters
RGD ID:7213323
Promoter ID:EPDNEW_H12406
Type:multiple initiation site
Name:SOX17_1
Description:SRY-box 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38854,457,935 - 54,457,995EPDNEW
RGD ID:6807044
Promoter ID:HG_KWN:61302
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_022454
Position:
Human AssemblyChrPosition (strand)Source
Build 36855,532,946 - 55,533,446 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18122 AgrOrtholog
COSMIC SOX17 COSMIC
Ensembl Genes ENSG00000164736 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297316 ENTREZGENE
  ENST00000297316.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164736 GTEx
HGNC ID HGNC:18122 ENTREZGENE
Human Proteome Map SOX17 Human Proteome Map
InterPro HMG_box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sox7/17/18_central UniProtKB/Swiss-Prot
  Sox_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRY-related_HMG-box_TFs UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64321 UniProtKB/Swiss-Prot
NCBI Gene 64321 ENTREZGENE
OMIM 610928 OMIM
PANTHER SOX TRANSCRIPTION FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSCRIPTION FACTOR SOX-17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HMG_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sox17_18_mid UniProtKB/Swiss-Prot
PharmGKB PA38296 PharmGKB
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOX_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HMG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt Q2NKK5_HUMAN UniProtKB/TrEMBL
  Q2T9L5_HUMAN UniProtKB/TrEMBL
  Q9H6I2 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-25 SOX17  SRY-box transcription factor 17  SOX17  SRY-box 17  Symbol and/or name change 5135510 APPROVED
2015-12-01 SOX17  SRY-box 17  SOX17  SRY box 17  Symbol and/or name change 5135510 APPROVED
2015-11-10 SOX17  SRY box 17  SOX17  SRY (sex determining region Y)-box 17  Symbol and/or name change 5135510 APPROVED