STOX1 (storkhead box 1) - Rat Genome Database

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Gene: STOX1 (storkhead box 1) Homo sapiens
Analyze
Symbol: STOX1
Name: storkhead box 1
RGD ID: 1321633
HGNC Page HGNC:23508
Description: Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including positive regulation of mitotic cell cycle phase transition; positive regulation of protein phosphorylation; and regulation of gene expression. Located in centrosome; cytosol; and nuclear lumen. Implicated in pre-eclampsia. Biomarker of Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C10orf24; chromosome 10 open reading frame 24; PEE4; storkhead-box protein 1; winged-helix domain-containing protein
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
GRCh381068,827,531 - 68,895,432 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1068,827,531 - 68,895,432 (+)EnsemblGRCh38hg38GRCh38
GRCh371070,587,288 - 70,655,188 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361070,257,387 - 70,322,821 (+)NCBINCBI36Build 36hg18NCBI36
Celera1063,863,183 - 63,931,097 (+)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1064,588,712 - 64,656,710 (+)NCBIHuRef
CHM1_11070,869,061 - 70,936,835 (+)NCBICHM1_1
T2T-CHM13v2.01069,696,680 - 69,764,246 (+)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
cell cortex  (IEA)
centrosome  (IDA,IEA)
cytoplasm  (IBA,IDA,IEA)
cytoskeleton  (IEA)
cytosol  (IDA)
fibrillar center  (IDA)
nucleolus  (IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. STOX1 gene in pre-eclampsia and intrauterine growth restriction. Berends AL, etal., BJOG. 2007 Sep;114(9):1163-7. Epub 2007 Jul 6.
2. Preeclampsia-like symptoms induced in mice by fetoplacental expression of STOX1 are reversed by aspirin treatment. Doridot L, etal., Hypertension. 2013 Mar;61(3):662-8. doi: 10.1161/HYPERTENSIONAHA.111.202994. Epub 2013 Jan 28.
3. Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia. Ducat A, etal., Sci Rep. 2016 Jan 13;6:19196. doi: 10.1038/srep19196.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. The pre-eclampsia gene STOX1 controls a conserved pathway in placenta and brain upregulated in late-onset Alzheimer's disease. van Dijk M, etal., J Alzheimers Dis. 2010;19(2):673-9. doi: 10.3233/JAD-2010-1265.
9. Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family. van Dijk M, etal., Nat Genet. 2005 May;37(5):514-9. Epub 2005 Apr 3.
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15164054   PMID:15489334   PMID:16344560   PMID:17290274   PMID:18029348   PMID:19079545   PMID:19577309   PMID:20400461   PMID:20643876   PMID:20716964  
PMID:21490791   PMID:21755018   PMID:21873635   PMID:21988832   PMID:22253775   PMID:22728895   PMID:22993228   PMID:22995177   PMID:24738702   PMID:25416956   PMID:28514442   PMID:29676528  
PMID:30955313   PMID:31189268   PMID:31515488   PMID:31724315   PMID:32296183   PMID:32534058   PMID:32807495   PMID:33356399   PMID:33961781   PMID:34673265   PMID:34941261   PMID:35575683  
PMID:36369889   PMID:36555567  


Genomics

Comparative Map Data
STOX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381068,827,531 - 68,895,432 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1068,827,531 - 68,895,432 (+)EnsemblGRCh38hg38GRCh38
GRCh371070,587,288 - 70,655,188 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361070,257,387 - 70,322,821 (+)NCBINCBI36Build 36hg18NCBI36
Celera1063,863,183 - 63,931,097 (+)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1064,588,712 - 64,656,710 (+)NCBIHuRef
CHM1_11070,869,061 - 70,936,835 (+)NCBICHM1_1
T2T-CHM13v2.01069,696,680 - 69,764,246 (+)NCBIT2T-CHM13v2.0
Stox1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391062,494,822 - 62,561,907 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1062,494,822 - 62,561,907 (-)EnsemblGRCm39 Ensembl
GRCm381062,659,043 - 62,726,094 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1062,659,043 - 62,726,128 (-)EnsemblGRCm38mm10GRCm38
MGSCv371062,122,170 - 62,188,847 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361062,054,400 - 62,121,485 (-)NCBIMGSCv36mm8
Celera1063,761,116 - 63,769,635 (-)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.45NCBI
Stox1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82031,140,993 - 31,209,126 (-)NCBIGRCr8
mRatBN7.22030,598,284 - 30,666,371 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2030,598,168 - 30,666,939 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2031,609,607 - 31,677,074 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02031,000,521 - 31,067,993 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02031,737,328 - 31,804,804 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02032,276,857 - 32,353,677 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2032,276,658 - 32,353,677 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02034,061,421 - 34,137,583 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42029,904,966 - 29,977,218 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12029,918,765 - 29,991,018 (-)NCBI
Celera2032,017,664 - 32,084,673 (-)NCBICelera
Cytogenetic Map20q11NCBI
Stox1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543722,124,272 - 22,165,848 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543722,122,296 - 22,165,848 (-)NCBIChiLan1.0ChiLan1.0
STOX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2880,983,717 - 81,038,569 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11080,989,038 - 81,043,890 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01065,304,649 - 65,359,501 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11067,882,669 - 67,896,410 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1067,882,654 - 67,894,039 (+)Ensemblpanpan1.1panPan2
STOX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1420,013,893 - 20,065,480 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl420,014,007 - 20,060,394 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha420,144,988 - 20,196,158 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0420,286,922 - 20,338,157 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl420,286,792 - 20,344,928 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1420,187,255 - 20,238,841 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0420,390,704 - 20,441,873 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0420,733,585 - 20,784,970 (+)NCBIUU_Cfam_GSD_1.0
Stox1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721361,006,877 - 61,061,338 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365219,500,152 - 9,554,082 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365219,500,443 - 9,554,082 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STOX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1471,928,399 - 71,985,233 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11471,927,387 - 71,985,239 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21477,943,033 - 78,000,558 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STOX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1962,518,872 - 62,589,107 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl962,524,049 - 62,533,821 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604823,265,596 - 23,336,604 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Stox1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247543,111,269 - 3,122,425 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247543,110,951 - 3,119,511 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STOX1
78 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_152709.5(STOX1):c.457T>C (p.Tyr153His) single nucleotide variant Preeclampsia/eclampsia 4 [RCV000001789] Chr10:68882104 [GRCh38]
Chr10:70641860 [GRCh37]
Chr10:10q22.1		 risk factor
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) single nucleotide variant Preeclampsia/eclampsia 4 [RCV000001790]|not provided [RCV004717900]|not specified [RCV001777128] Chr10:68885620 [GRCh38]
Chr10:70645376 [GRCh37]
Chr10:10q22.1		 pathogenic|benign|conflicting interpretations of pathogenicity
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_152709.5(STOX1):c.1852C>T (p.Pro618Ser) single nucleotide variant not specified [RCV004150932] Chr10:68885648 [GRCh38]
Chr10:70645404 [GRCh37]
Chr10:70315410 [NCBI36]
Chr10:10q22.1		 uncertain significance|not provided
NM_001130161.2(STOX1):c.1908G>A (p.Gln636=) single nucleotide variant Malignant melanoma [RCV000062069] Chr10:68885704 [GRCh38]
Chr10:70645460 [GRCh37]
Chr10:70315466 [NCBI36]
Chr10:10q22.1		 not provided
NM_001130161.2(STOX1):c.311-8408C>T single nucleotide variant Lung cancer [RCV000109319] Chr10:68873550 [GRCh38]
Chr10:70633306 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.1474C>T (p.Arg492Ter) single nucleotide variant Preeclampsia/eclampsia 4 [RCV001332972] Chr10:68885270 [GRCh38]
Chr10:70645026 [GRCh37]
Chr10:10q22.1		 pathogenic
GRCh38/hg38 10q21.3-22.1(chr10:68543815-68977524)x1 copy number loss See cases [RCV000134927] Chr10:68543815..68977524 [GRCh38]
Chr10:70303572..70737280 [GRCh37]
Chr10:69973578..70407286 [NCBI36]
Chr10:10q21.3-22.1		 likely benign|uncertain significance
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q21.3-22.1(chr10:70525750-70775715)x3 copy number gain See cases [RCV000447949] Chr10:70525750..70775715 [GRCh37]
Chr10:10q21.3-22.1		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1 copy number loss not provided [RCV000513331] Chr10:68394411..70673475 [GRCh37]
Chr10:10q21.3-22.1		 likely pathogenic
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10q21.3(chr10:70584181-70588088)x0 copy number loss not provided [RCV000737180] Chr10:70584181..70588088 [GRCh37]
Chr10:10q21.3		 benign
GRCh37/hg19 10q21.3-22.1(chr10:70587932-70622121)x1 copy number loss not provided [RCV000737181] Chr10:70587932..70622121 [GRCh37]
Chr10:10q21.3-22.1		 benign
GRCh37/hg19 10q21.3-22.1(chr10:70594448-70622121)x1 copy number loss not provided [RCV000737182] Chr10:70594448..70622121 [GRCh37]
Chr10:10q21.3-22.1		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_152709.5(STOX1):c.1776A>C (p.Gln592His) single nucleotide variant not specified [RCV004292994] Chr10:68885572 [GRCh38]
Chr10:70645328 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.563C>A (p.Thr188Asn) single nucleotide variant not provided [RCV000889905] Chr10:68884359 [GRCh38]
Chr10:70644115 [GRCh37]
Chr10:10q22.1		 benign
NM_152709.5(STOX1):c.2502C>T (p.Tyr834=) single nucleotide variant not provided [RCV000889906] Chr10:68886298 [GRCh38]
Chr10:70646054 [GRCh37]
Chr10:10q22.1		 benign
NM_152709.5(STOX1):c.1149del (p.Lys383fs) deletion Preeclampsia/eclampsia 4 [RCV001294240] Chr10:68884941 [GRCh38]
Chr10:70644697 [GRCh37]
Chr10:10q22.1		 pathogenic
NM_152709.5(STOX1):c.748A>G (p.Met250Val) single nucleotide variant not provided [RCV001355411]|not specified [RCV004034445] Chr10:68884544 [GRCh38]
Chr10:70644300 [GRCh37]
Chr10:10q22.1		 likely benign|uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NC_000010.10:g.(?_67680088)_(71332799_?)del deletion not provided [RCV001956019] Chr10:67680088..71332799 [GRCh37]
Chr10:10q21.3-22.1		 pathogenic|uncertain significance
NM_152709.5(STOX1):c.806A>C (p.His269Pro) single nucleotide variant not specified [RCV004309976] Chr10:68884602 [GRCh38]
Chr10:70644358 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2058A>T (p.Arg686Ser) single nucleotide variant not specified [RCV004115480] Chr10:68885854 [GRCh38]
Chr10:70645610 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.112C>T (p.Arg38Cys) single nucleotide variant not specified [RCV004240431] Chr10:68827735 [GRCh38]
Chr10:70587492 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.134C>G (p.Ala45Gly) single nucleotide variant not specified [RCV004213024] Chr10:68827757 [GRCh38]
Chr10:70587514 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.1207G>A (p.Gly403Arg) single nucleotide variant not specified [RCV004237619] Chr10:68885003 [GRCh38]
Chr10:70644759 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.1143G>A (p.Met381Ile) single nucleotide variant not specified [RCV004217396] Chr10:68884939 [GRCh38]
Chr10:70644695 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.195G>C (p.Trp65Cys) single nucleotide variant not specified [RCV004165908] Chr10:68827818 [GRCh38]
Chr10:70587575 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.76G>A (p.Gly26Arg) single nucleotide variant not specified [RCV004174453] Chr10:68827699 [GRCh38]
Chr10:70587456 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.460C>T (p.Pro154Ser) single nucleotide variant not specified [RCV004133374] Chr10:68882107 [GRCh38]
Chr10:70641863 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.103G>T (p.Ala35Ser) single nucleotide variant not specified [RCV004175568] Chr10:68827726 [GRCh38]
Chr10:70587483 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.1082T>C (p.Ile361Thr) single nucleotide variant not specified [RCV004072987] Chr10:68884878 [GRCh38]
Chr10:70644634 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.104C>T (p.Ala35Val) single nucleotide variant not specified [RCV004175569] Chr10:68827727 [GRCh38]
Chr10:70587484 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.742C>T (p.Arg248Trp) single nucleotide variant not specified [RCV004188037] Chr10:68884538 [GRCh38]
Chr10:70644294 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.1897G>A (p.Glu633Lys) single nucleotide variant not specified [RCV004093248] Chr10:68885693 [GRCh38]
Chr10:70645449 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.1267C>G (p.Gln423Glu) single nucleotide variant not specified [RCV004154163] Chr10:68885063 [GRCh38]
Chr10:70644819 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.461C>T (p.Pro154Leu) single nucleotide variant not specified [RCV004204572] Chr10:68882108 [GRCh38]
Chr10:70641864 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.38C>A (p.Ala13Glu) single nucleotide variant not specified [RCV004114327] Chr10:68827661 [GRCh38]
Chr10:70587418 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.799A>C (p.Lys267Gln) single nucleotide variant not specified [RCV004072170] Chr10:68884595 [GRCh38]
Chr10:70644351 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2266A>G (p.Ser756Gly) single nucleotide variant not specified [RCV004176494] Chr10:68886062 [GRCh38]
Chr10:70645818 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2945C>T (p.Pro982Leu) single nucleotide variant STOX1-related disorder [RCV003954013]|not specified [RCV004193227] Chr10:68892711 [GRCh38]
Chr10:70652467 [GRCh37]
Chr10:10q22.1		 benign|uncertain significance
NM_152709.5(STOX1):c.1899G>C (p.Glu633Asp) single nucleotide variant not specified [RCV004174842] Chr10:68885695 [GRCh38]
Chr10:70645451 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.71C>G (p.Ala24Gly) single nucleotide variant not specified [RCV004152624] Chr10:68827694 [GRCh38]
Chr10:70587451 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.245T>C (p.Val82Ala) single nucleotide variant not specified [RCV004302547] Chr10:68827868 [GRCh38]
Chr10:70587625 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.670A>G (p.Met224Val) single nucleotide variant not specified [RCV004275542] Chr10:68884466 [GRCh38]
Chr10:70644222 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.1883T>G (p.Phe628Cys) single nucleotide variant not specified [RCV004251940] Chr10:68885679 [GRCh38]
Chr10:70645435 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2804G>A (p.Ser935Asn) single nucleotide variant not specified [RCV004254583] Chr10:68886600 [GRCh38]
Chr10:70646356 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.454C>T (p.His152Tyr) single nucleotide variant not specified [RCV004253573] Chr10:68882101 [GRCh38]
Chr10:70641857 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2093G>A (p.Gly698Glu) single nucleotide variant not specified [RCV004271051] Chr10:68885889 [GRCh38]
Chr10:70645645 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_152709.5(STOX1):c.2356A>G (p.Met786Val) single nucleotide variant not specified [RCV004323760] Chr10:68886152 [GRCh38]
Chr10:70645908 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.748A>C (p.Met250Leu) single nucleotide variant not specified [RCV004351968] Chr10:68884544 [GRCh38]
Chr10:70644300 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.608A>G (p.Lys203Arg) single nucleotide variant not specified [RCV004353095] Chr10:68884404 [GRCh38]
Chr10:70644160 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.1764G>T (p.Gln588His) single nucleotide variant not specified [RCV004339508] Chr10:68885560 [GRCh38]
Chr10:70645316 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.2011C>G (p.Leu671Val) single nucleotide variant not specified [RCV004343497] Chr10:68885807 [GRCh38]
Chr10:70645563 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.602A>G (p.Glu201Gly) single nucleotide variant not specified [RCV004359085] Chr10:68884398 [GRCh38]
Chr10:70644154 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1 copy number loss not provided [RCV003483092] Chr10:51735638..70791246 [GRCh37]
Chr10:10q11.23-22.1		 pathogenic
NM_152709.5(STOX1):c.178C>T (p.Leu60=) single nucleotide variant not provided [RCV003417449] Chr10:68827801 [GRCh38]
Chr10:70587558 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.310+204C>T single nucleotide variant not provided [RCV003417450] Chr10:68828137 [GRCh38]
Chr10:70587894 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.1744C>T (p.Leu582Phe) single nucleotide variant not provided [RCV003417451] Chr10:68885540 [GRCh38]
Chr10:70645296 [GRCh37]
Chr10:10q22.1		 benign
NM_152709.5(STOX1):c.1902C>G (p.Thr634=) single nucleotide variant not provided [RCV003417452] Chr10:68885698 [GRCh38]
Chr10:70645454 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.2322G>A (p.Val774=) single nucleotide variant not provided [RCV003417453] Chr10:68886118 [GRCh38]
Chr10:70645874 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.2145C>T (p.Asn715=) single nucleotide variant STOX1-related disorder [RCV003979504] Chr10:68885941 [GRCh38]
Chr10:70645697 [GRCh37]
Chr10:10q22.1		 benign
NM_152709.5(STOX1):c.2280C>T (p.Phe760=) single nucleotide variant STOX1-related disorder [RCV003949234] Chr10:68886076 [GRCh38]
Chr10:70645832 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.923G>C (p.Gly308Ala) single nucleotide variant STOX1-related disorder [RCV003949348] Chr10:68884719 [GRCh38]
Chr10:70644475 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.777A>G (p.Pro259=) single nucleotide variant STOX1-related disorder [RCV003929392] Chr10:68884573 [GRCh38]
Chr10:70644329 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.2246G>A (p.Arg749His) single nucleotide variant not specified [RCV004458390] Chr10:68886042 [GRCh38]
Chr10:70645798 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2396G>C (p.Cys799Ser) single nucleotide variant not specified [RCV004458391] Chr10:68886192 [GRCh38]
Chr10:70645948 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2563T>C (p.Phe855Leu) single nucleotide variant not specified [RCV004458392] Chr10:68886359 [GRCh38]
Chr10:70646115 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.479C>T (p.Ser160Leu) single nucleotide variant not specified [RCV004458393] Chr10:68884275 [GRCh38]
Chr10:70644031 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.872A>G (p.His291Arg) single nucleotide variant not specified [RCV004458397] Chr10:68884668 [GRCh38]
Chr10:70644424 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.970G>A (p.Glu324Lys) single nucleotide variant not specified [RCV004458399] Chr10:68884766 [GRCh38]
Chr10:70644522 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.1034G>A (p.Arg345Gln) single nucleotide variant not specified [RCV004458382] Chr10:68884830 [GRCh38]
Chr10:70644586 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.536A>C (p.His179Pro) single nucleotide variant not specified [RCV004458394] Chr10:68884332 [GRCh38]
Chr10:70644088 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.830C>G (p.Ser277Cys) single nucleotide variant not specified [RCV004458396] Chr10:68884626 [GRCh38]
Chr10:70644382 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.904A>G (p.Thr302Ala) single nucleotide variant not specified [RCV004458398] Chr10:68884700 [GRCh38]
Chr10:70644456 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.149A>C (p.Asn50Thr) single nucleotide variant not specified [RCV004458385] Chr10:68827772 [GRCh38]
Chr10:70587529 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.160G>A (p.Ala54Thr) single nucleotide variant not specified [RCV004458386] Chr10:68827783 [GRCh38]
Chr10:70587540 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2032G>A (p.Val678Met) single nucleotide variant not specified [RCV004458387] Chr10:68885828 [GRCh38]
Chr10:70645584 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.203G>C (p.Arg68Pro) single nucleotide variant not specified [RCV004458388] Chr10:68827826 [GRCh38]
Chr10:70587583 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.1064G>A (p.Arg355Gln) single nucleotide variant not specified [RCV004458384] Chr10:68884860 [GRCh38]
Chr10:70644616 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2129A>G (p.Asn710Ser) single nucleotide variant not specified [RCV004458389] Chr10:68885925 [GRCh38]
Chr10:70645681 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.565C>T (p.Pro189Ser) single nucleotide variant not specified [RCV004458395] Chr10:68884361 [GRCh38]
Chr10:70644117 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.226C>A (p.Pro76Thr) single nucleotide variant not specified [RCV004668169] Chr10:68827849 [GRCh38]
Chr10:70587606 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.509C>T (p.Thr170Met) single nucleotide variant not specified [RCV004668170] Chr10:68884305 [GRCh38]
Chr10:70644061 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.1556T>C (p.Leu519Pro) single nucleotide variant not specified [RCV004681697] Chr10:68885352 [GRCh38]
Chr10:70645108 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.163C>G (p.Arg55Gly) single nucleotide variant not specified [RCV004668171] Chr10:68827786 [GRCh38]
Chr10:70587543 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2858T>G (p.Leu953Trp) single nucleotide variant not specified [RCV004668173] Chr10:68892624 [GRCh38]
Chr10:70652380 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.205G>A (p.Gly69Arg) single nucleotide variant not specified [RCV004668172] Chr10:68827828 [GRCh38]
Chr10:70587585 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.2912G>A (p.Ser971Asn) single nucleotide variant not specified [RCV004668174] Chr10:68892678 [GRCh38]
Chr10:70652434 [GRCh37]
Chr10:10q22.1		 likely benign
NM_152709.5(STOX1):c.209T>C (p.Val70Ala) single nucleotide variant not specified [RCV004668175] Chr10:68827832 [GRCh38]
Chr10:70587589 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_152709.5(STOX1):c.53G>C (p.Arg18Pro) single nucleotide variant not provided [RCV004722605] Chr10:68827676 [GRCh38]
Chr10:70587433 [GRCh37]
Chr10:10q22.1		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:466
Count of miRNA genes:180
Interacting mature miRNAs:185
Transcripts:ENST00000298596, ENST00000399162, ENST00000399165, ENST00000399169, ENST00000421961
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407389888GWAS1038864_Hacute myeloid leukemia QTL GWAS1038864 (human)1e-22acute myeloid leukemia106886133068861331Human
406978795GWAS627771_Hintelligence QTL GWAS627771 (human)0.000003intelligence106884310068843101Human
407166120GWAS815096_Hcortical thickness QTL GWAS815096 (human)2e-10cortical thickness106887350768873508Human
407028591GWAS677567_Hlumbar disc degeneration QTL GWAS677567 (human)0.000004lumbar disc degeneration106886667368866674Human
407240587GWAS889563_Hbone density QTL GWAS889563 (human)4e-23bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)106887494968874950Human
407155691GWAS804667_Hgut microbiome measurement QTL GWAS804667 (human)0.000003gut microbiome measurement106888948868889489Human
407111316GWAS760292_Heosinophil count QTL GWAS760292 (human)2e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)106884782468847825Human
407169204GWAS818180_Hcervical cancer QTL GWAS818180 (human)0.000003cervical cancer106887228568872286Human
407416986GWAS1065962_Hlean body mass QTL GWAS1065962 (human)3e-08body lean mass (VT:0010483)total body lean mass (CMO:0003950)106882972168829722Human
407355889GWAS1004865_HBMI-adjusted hip circumference QTL GWAS1004865 (human)4e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)106883088768830888Human
407173490GWAS822466_Hcortical surface area measurement QTL GWAS822466 (human)1e-10cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)106883237368832374Human
407355888GWAS1004864_HBMI-adjusted hip circumference QTL GWAS1004864 (human)2e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)106885095868850959Human
407285118GWAS934094_Hinsomnia QTL GWAS934094 (human)2e-08insomnia106884404868844049Human
406932152GWAS581128_Heducational attainment QTL GWAS581128 (human)7e-09educational attainment106886589068865891Human
407389970GWAS1038946_Hacute myeloid leukemia QTL GWAS1038946 (human)2e-08acute myeloid leukemia106886133068861331Human
407291163GWAS940139_Hschizophrenia QTL GWAS940139 (human)0.0000005schizophrenia106884310068843101Human

Markers in Region
WI-18142  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,652,649 - 70,652,774UniSTSGRCh37
Build 361070,322,655 - 70,322,780RGDNCBI36
Celera1063,928,537 - 63,928,662RGD
Cytogenetic Map10q22.1UniSTS
HuRef1064,654,150 - 64,654,275UniSTS
GeneMap99-GB4 RH Map10369.45UniSTS
Whitehead-RH Map10439.2UniSTS
G59359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,606,197 - 70,606,495UniSTSGRCh37
Build 361070,276,203 - 70,276,501RGDNCBI36
Celera1063,882,095 - 63,882,393RGD
Cytogenetic Map10q22.1UniSTS
HuRef1064,607,837 - 64,608,135UniSTS
TNG Radiation Hybrid Map1031785.0UniSTS
SHGC-147108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,586,717 - 70,587,051UniSTSGRCh37
Build 361070,256,723 - 70,257,057RGDNCBI36
Celera1063,862,606 - 63,862,940RGD
Cytogenetic Map10q22.1UniSTS
HuRef1064,588,135 - 64,588,469UniSTS
TNG Radiation Hybrid Map1031810.0UniSTS
SHGC-52582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371070,589,922 - 70,590,023UniSTSGRCh37
Build 361070,259,928 - 70,260,029RGDNCBI36
Celera1063,865,811 - 63,865,912RGD
Cytogenetic Map10q22.1UniSTS
HuRef1064,591,004 - 64,591,105UniSTS
TNG Radiation Hybrid Map1031777.0UniSTS
GeneMap99-G3 RH Map103018.0UniSTS


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 2437 2788 2232 4961 1704 2322 6 604 1740 445 2260 7045 6239 52 3732 1 844 1743 1608 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK057864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW086180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY842014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY842015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY842016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY842017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA118241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ099680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000298596   ⟹   ENSP00000298596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,827,531 - 68,893,060 (+)Ensembl
Ensembl Acc Id: ENST00000399162   ⟹   ENSP00000382115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,827,624 - 68,893,060 (+)Ensembl
Ensembl Acc Id: ENST00000399165   ⟹   ENSP00000382118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,827,624 - 68,893,060 (+)Ensembl
Ensembl Acc Id: ENST00000399169   ⟹   ENSP00000382121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,827,541 - 68,895,432 (+)Ensembl
Ensembl Acc Id: ENST00000642869   ⟹   ENSP00000494558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1068,827,624 - 68,893,060 (+)Ensembl
RefSeq Acc Id: NM_001130159   ⟹   NP_001123631
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,827,531 - 68,893,060 (+)NCBI
GRCh371070,587,294 - 70,655,209 (+)ENTREZGENE
HuRef1064,588,712 - 64,656,710 (+)ENTREZGENE
CHM1_11070,869,061 - 70,934,442 (+)NCBI
T2T-CHM13v2.01069,696,680 - 69,761,874 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130160   ⟹   NP_001123632
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,827,531 - 68,893,060 (+)NCBI
GRCh371070,587,294 - 70,655,209 (+)ENTREZGENE
HuRef1064,588,712 - 64,656,710 (+)ENTREZGENE
CHM1_11070,869,061 - 70,934,442 (+)NCBI
T2T-CHM13v2.01069,696,680 - 69,761,874 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001130161   ⟹   NP_001123633
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,827,531 - 68,895,432 (+)NCBI
GRCh371070,587,294 - 70,655,209 (+)ENTREZGENE
HuRef1064,588,712 - 64,656,710 (+)ENTREZGENE
CHM1_11070,869,061 - 70,936,835 (+)NCBI
T2T-CHM13v2.01069,696,680 - 69,764,246 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152709   ⟹   NP_689922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,827,531 - 68,893,060 (+)NCBI
GRCh371070,587,294 - 70,655,209 (+)ENTREZGENE
Build 361070,257,387 - 70,322,821 (+)NCBI Archive
HuRef1064,588,712 - 64,656,710 (+)ENTREZGENE
CHM1_11070,869,061 - 70,934,442 (+)NCBI
T2T-CHM13v2.01069,696,680 - 69,761,874 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539454   ⟹   XP_011537756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381068,827,977 - 68,893,060 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001123633   ⟸   NM_001130161
- Peptide Label: isoform a
- UniProtKB: Q96LR3 (UniProtKB/Swiss-Prot),   Q6ZRY3 (UniProtKB/Swiss-Prot),   Q5VX39 (UniProtKB/Swiss-Prot),   Q5VX38 (UniProtKB/Swiss-Prot),   Q5I948 (UniProtKB/Swiss-Prot),   Q5I947 (UniProtKB/Swiss-Prot),   Q5I946 (UniProtKB/Swiss-Prot),   Q4F8Q6 (UniProtKB/Swiss-Prot),   B0QZA6 (UniProtKB/Swiss-Prot),   B0QZA5 (UniProtKB/Swiss-Prot),   B0QZA4 (UniProtKB/Swiss-Prot),   A5D6Y7 (UniProtKB/Swiss-Prot),   A2A3Q9 (UniProtKB/Swiss-Prot),   Q96LS0 (UniProtKB/Swiss-Prot),   Q6ZVD7 (UniProtKB/Swiss-Prot),   A0A2R8Y5I4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_689922   ⟸   NM_152709
- Peptide Label: isoform a
- UniProtKB: Q96LR3 (UniProtKB/Swiss-Prot),   Q6ZRY3 (UniProtKB/Swiss-Prot),   Q5VX39 (UniProtKB/Swiss-Prot),   Q5VX38 (UniProtKB/Swiss-Prot),   Q5I948 (UniProtKB/Swiss-Prot),   Q5I947 (UniProtKB/Swiss-Prot),   Q5I946 (UniProtKB/Swiss-Prot),   Q4F8Q6 (UniProtKB/Swiss-Prot),   B0QZA6 (UniProtKB/Swiss-Prot),   B0QZA5 (UniProtKB/Swiss-Prot),   B0QZA4 (UniProtKB/Swiss-Prot),   A5D6Y7 (UniProtKB/Swiss-Prot),   A2A3Q9 (UniProtKB/Swiss-Prot),   Q96LS0 (UniProtKB/Swiss-Prot),   Q6ZVD7 (UniProtKB/Swiss-Prot),   A0A2R8Y5I4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123631   ⟸   NM_001130159
- Peptide Label: isoform b
- UniProtKB: Q6ZVD7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001123632   ⟸   NM_001130160
- Peptide Label: isoform c
- UniProtKB: Q6ZVD7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011537756   ⟸   XM_011539454
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000382115   ⟸   ENST00000399162
Ensembl Acc Id: ENSP00000382118   ⟸   ENST00000399165
Ensembl Acc Id: ENSP00000382121   ⟸   ENST00000399169
Ensembl Acc Id: ENSP00000298596   ⟸   ENST00000298596
Ensembl Acc Id: ENSP00000494558   ⟸   ENST00000642869
Protein Domains
Winged helix Storkhead-box1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZVD7-F1-model_v2 AlphaFold Q6ZVD7 1-989 view protein structure

Promoters
RGD ID:7217713
Promoter ID:EPDNEW_H14602
Type:initiation region
Name:STOX1_1
Description:storkhead box 1
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
GRCh381068,827,531 - 68,827,591EPDNEW
RGD ID:6787613
Promoter ID:HG_KWN:9834
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000399159,   ENST00000399165,   NM_001130161,   OTTHUMT00000276849,   OTTHUMT00000276851
Position:
Human AssemblyChrPosition (strand)Source
Build 361070,256,944 - 70,257,444 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23508 AgrOrtholog
COSMIC STOX1 COSMIC
Ensembl Genes ENSG00000165730 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000298596 ENTREZGENE
  ENST00000298596.11 UniProtKB/Swiss-Prot
  ENST00000399162 ENTREZGENE
  ENST00000399162.2 UniProtKB/Swiss-Prot
  ENST00000399165 ENTREZGENE
  ENST00000399165.8 UniProtKB/Swiss-Prot
  ENST00000399169 ENTREZGENE
  ENST00000399169.8 UniProtKB/Swiss-Prot
  ENST00000642869.1 UniProtKB/TrEMBL
GTEx ENSG00000165730 GTEx
HGNC ID HGNC:23508 ENTREZGENE
Human Proteome Map STOX1 Human Proteome Map
InterPro Storkhead-box_winged-helix UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STOX1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:219736 UniProtKB/Swiss-Prot
NCBI Gene 219736 ENTREZGENE
OMIM 609397 OMIM
PANTHER PTHR22437 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STORKHEAD-BOX PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Stork_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134883643 PharmGKB
UniProt A0A2R8Y5I4 ENTREZGENE, UniProtKB/TrEMBL
  A2A3Q9 ENTREZGENE
  A5D6Y7 ENTREZGENE
  B0QZA4 ENTREZGENE
  B0QZA5 ENTREZGENE
  B0QZA6 ENTREZGENE
  Q4F8Q6 ENTREZGENE
  Q5I946 ENTREZGENE
  Q5I947 ENTREZGENE
  Q5I948 ENTREZGENE
  Q5VX38 ENTREZGENE
  Q5VX39 ENTREZGENE
  Q6ZRY3 ENTREZGENE
  Q6ZVD7 ENTREZGENE
  Q96LR3 ENTREZGENE
  Q96LS0 ENTREZGENE
  STOX1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2A3Q9 UniProtKB/Swiss-Prot
  A5D6Y7 UniProtKB/Swiss-Prot
  B0QZA4 UniProtKB/Swiss-Prot
  B0QZA5 UniProtKB/Swiss-Prot
  B0QZA6 UniProtKB/Swiss-Prot
  Q4F8Q6 UniProtKB/Swiss-Prot
  Q5I946 UniProtKB/Swiss-Prot
  Q5I947 UniProtKB/Swiss-Prot
  Q5I948 UniProtKB/Swiss-Prot
  Q5VX38 UniProtKB/Swiss-Prot
  Q5VX39 UniProtKB/Swiss-Prot
  Q6ZRY3 UniProtKB/Swiss-Prot
  Q96LR3 UniProtKB/Swiss-Prot
  Q96LS0 UniProtKB/Swiss-Prot