OR10S1 (olfactory receptor family 10 subfamily S member 1)

Gene: OR10S1 (olfactory receptor family 10 subfamily S member 1) Homo sapiens

Analyze

Symbol:

OR10S1

Name:

olfactory receptor family 10 subfamily S member 1

RGD ID:

1349590

HGNC Page

HGNC:14807

Description:

Predicted to enable olfactory receptor activity. Predicted to be involved in detection of chemical stimulus involved in sensory perception of smell. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

olfactory receptor 10S1; olfactory receptor OR11-279; olfactory receptor, family 10, subfamily S, member 1; OR11-279

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	123,976,661 - 123,977,781 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	123,976,661 - 123,977,781 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	123,847,368 - 123,848,488 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	123,352,613 - 123,353,608 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	123,352,612 - 123,353,608	NCBI
Celera	11	121,006,598 - 121,007,593 (-)	NCBI		Celera
Cytogenetic Map	11	q24.1	NCBI
HuRef	11	119,788,191 - 119,789,186 (-)	NCBI		HuRef
CHM1_1	11	123,733,565 - 123,734,560 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	124,005,286 - 124,006,406 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Chromosome 11, Partial Trisomy 11q (IAGP)

Dwarfism (IAGP)

genetic disease (IAGP)

holoprosencephaly 11 (IAGP)

schizophrenia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2-palmitoylglycerol (EXP)

6-propyl-2-thiouracil (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

CGP 52608 (EXP)

PCB138 (ISO)

sodium arsenite (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

detection of chemical stimulus involved in sensory perception of smell (IBA,IEA)

G protein-coupled receptor signaling pathway (IEA)

sensory perception of smell (IEA)

signal transduction (IEA)

Cellular Component

membrane (IEA)

plasma membrane (IBA,IEA,TAS)

Molecular Function

G protein-coupled receptor activity (IEA)

olfactory receptor activity (IBA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Schizophrenia (IAGP)

Short stature (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12213199	PMID:12477932	PMID:14983052	PMID:21873635	PMID:33961781

Genomics

Comparative Map Data

OR10S1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	123,976,661 - 123,977,781 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	123,976,661 - 123,977,781 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	123,847,368 - 123,848,488 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	123,352,613 - 123,353,608 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	123,352,612 - 123,353,608	NCBI
Celera	11	121,006,598 - 121,007,593 (-)	NCBI		Celera
Cytogenetic Map	11	q24.1	NCBI
HuRef	11	119,788,191 - 119,789,186 (-)	NCBI		HuRef
CHM1_1	11	123,733,565 - 123,734,560 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	124,005,286 - 124,006,406 (-)	NCBI		T2T-CHM13v2.0

Or10s1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	39,985,593 - 39,986,558 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	39,985,125 - 39,990,700 (+)	Ensembl		GRCm39 Ensembl
GRCm38	9	40,074,297 - 40,075,262 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	40,073,829 - 40,079,404 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	39,881,882 - 39,882,847 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	39,824,868 - 39,825,833 (+)	NCBI		MGSCv36	mm8
Celera	9	37,313,177 - 37,314,142 (+)	NCBI		Celera
Cytogenetic Map	9	A5.1	NCBI
cM Map	9	21.36	NCBI

Or10s1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	49,274,175 - 49,275,225 (+)	NCBI		GRCr8
mRatBN7.2	8	40,377,018 - 40,378,068 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	40,377,103 - 40,378,068 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	45,861,309 - 45,862,262 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	44,145,361 - 44,146,314 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	42,007,501 - 42,008,454 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	43,872,728 - 43,873,681 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	43,872,728 - 43,873,681 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	61,647,010 - 61,647,963 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	42,966,247 - 42,967,200 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	42,975,012 - 42,975,966 (+)	NCBI
Celera	8	40,001,975 - 40,002,928 (+)	NCBI		Celera
Cytogenetic Map	8	q22	NCBI

LOC100970443
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	124,673,549 - 124,674,514 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	125,778,019 - 125,778,984 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	118,805,119 - 118,806,084 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	122,722,014 - 122,722,979 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

OR10S1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	10,509,352 - 10,510,380 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	10,509,385 - 10,510,380 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	10,565,627 - 10,566,655 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	10,458,618 - 10,459,646 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	10,458,651 - 10,459,646 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	10,525,522 - 10,526,550 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	10,494,179 - 10,495,207 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	10,539,927 - 10,540,955 (+)	NCBI		UU_Cfam_GSD_1.0

LOC101964472
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	105,451,074 - 105,452,063 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936542	8,372,483 - 8,373,478 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936542	8,372,483 - 8,373,472 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LOC100512247
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	50,909,148 - 50,910,113 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	50,909,148 - 50,910,125 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	56,139,991 - 56,140,986 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

Variants

Variants in OR10S1
19 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	copy number gain	See cases [RCV000050331]	Chr11:116851395..134998513 [GRCh38] Chr11:116722111..134868407 [GRCh37] Chr11:116227321..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	copy number loss	See cases [RCV000050905]	Chr11:119433909..134998513 [GRCh38] Chr11:119304619..134868407 [GRCh37] Chr11:118809829..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	copy number gain	See cases [RCV000051213]	Chr11:118789765..134998513 [GRCh38] Chr11:118660474..134868407 [GRCh37] Chr11:118165684..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1	copy number loss	See cases [RCV000052715]	Chr11:119215032..134998654 [GRCh38] Chr11:119085742..134868548 [GRCh37] Chr11:118590952..134373758 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	copy number loss	See cases [RCV000052716]	Chr11:120507265..134576266 [GRCh38] Chr11:120377974..134446160 [GRCh37] Chr11:119883184..133951370 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	copy number gain	See cases [RCV000053638]	Chr11:100348599..135040246 [GRCh38] Chr11:100219331..134910140 [GRCh37] Chr11:99724541..134415350 [NCBI36] Chr11:11q22.1-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	copy number gain	See cases [RCV000053643]	Chr11:120236432..135040246 [GRCh38] Chr11:120107141..134910140 [GRCh37] Chr11:119612351..134415350 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]\|See cases [RCV000053645]	Chr11:123753493..134998513 [GRCh38] Chr11:123624201..134868407 [GRCh37] Chr11:123129411..134373617 [NCBI36] Chr11:11q24.1-25	pathogenic
NM_001004474.1(OR10S1):c.761C>T (p.Pro254Leu)	single nucleotide variant	Malignant melanoma [RCV000069218]	Chr11:123976931 [GRCh38] Chr11:123847638 [GRCh37] Chr11:123352848 [NCBI36] Chr11:11q24.1	not provided
NM_001004474.1(OR10S1):c.117C>T (p.Leu39=)	single nucleotide variant	Malignant melanoma [RCV000062158]	Chr11:123977575 [GRCh38] Chr11:123848282 [GRCh37] Chr11:123353492 [NCBI36] Chr11:11q24.1	not provided
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	copy number loss	See cases [RCV000134708]	Chr11:123799938..134998526 [GRCh38] Chr11:123670646..134868420 [GRCh37] Chr11:123175856..134373630 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1	copy number loss	See cases [RCV000134405]	Chr11:120426093..124771213 [GRCh38] Chr11:120296802..124641109 [GRCh37] Chr11:119802012..124146319 [NCBI36] Chr11:11q23.3-24.2	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	copy number gain	See cases [RCV000134064]	Chr11:116851372..134998526 [GRCh38] Chr11:116722088..134868420 [GRCh37] Chr11:116227298..134373630 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1	copy number loss	See cases [RCV000136594]	Chr11:122182443..125957977 [GRCh38] Chr11:122053151..125827872 [GRCh37] Chr11:121558361..125333082 [NCBI36] Chr11:11q24.1-24.2	pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	copy number gain	See cases [RCV000137582]	Chr11:112864326..131189315 [GRCh38] Chr11:112832130..131059210 [GRCh37] Chr11:112240259..130564420 [NCBI36] Chr11:11q23.2-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	copy number gain	See cases [RCV000137453]	Chr11:116868935..135075271 [GRCh38] Chr11:116739651..134945165 [GRCh37] Chr11:116244861..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic\|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	copy number loss	See cases [RCV000138014]	Chr11:121780459..135075271 [GRCh38] Chr11:121651167..134945165 [GRCh37] Chr11:121156377..134450377 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	copy number loss	See cases [RCV000138373]	Chr11:120515759..135075271 [GRCh38] Chr11:120386468..134945165 [GRCh37] Chr11:119891678..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	copy number gain	See cases [RCV000138307]	Chr11:116806268..135075271 [GRCh38] Chr11:116676984..134945165 [GRCh37] Chr11:116182194..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	copy number loss	See cases [RCV000138544]	Chr11:123963074..135075271 [GRCh38] Chr11:123833781..134945165 [GRCh37] Chr11:123338991..134450377 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	copy number gain	See cases [RCV000139362]	Chr11:117333952..127709156 [GRCh38] Chr11:117204668..127579051 [GRCh37] Chr11:116709878..127084261 [NCBI36] Chr11:11q23.3-24.2	pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	copy number loss	See cases [RCV000138947]	Chr11:119424297..135075271 [GRCh38] Chr11:119295007..134945165 [GRCh37] Chr11:118800217..134450377 [NCBI36] Chr11:11q23.3-25	pathogenic\|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1	copy number loss	See cases [RCV000140070]	Chr11:120080142..125829106 [GRCh38] Chr11:119950851..125699001 [GRCh37] Chr11:119456061..125204211 [NCBI36] Chr11:11q23.3-24.2	pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	copy number loss	See cases [RCV000139622]	Chr11:121689052..135075271 [GRCh38] Chr11:121559760..134945165 [GRCh37] Chr11:121064970..134450377 [NCBI36] Chr11:11q24.1-25	pathogenic\|likely benign
GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3	copy number gain	See cases [RCV000141175]	Chr11:123543649..124802201 [GRCh38] Chr11:123414357..124672097 [GRCh37] Chr11:122919567..124177307 [NCBI36] Chr11:11q24.1-24.2	uncertain significance
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	copy number loss	See cases [RCV000142210]	Chr11:121806547..135068576 [GRCh38] Chr11:121677255..134938470 [GRCh37] Chr11:121182465..134443680 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	copy number loss	See cases [RCV000142185]	Chr11:121611476..135068576 [GRCh38] Chr11:121482185..134938470 [GRCh37] Chr11:120987395..134443680 [NCBI36] Chr11:11q24.1-25	pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	copy number gain	See cases [RCV000148276]	Chr11:116851395..134998513 [GRCh38] Chr11:116722111..134868407 [GRCh37] Chr11:116227321..134373617 [NCBI36] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1	copy number loss	See cases [RCV000240237]	Chr11:119807473..134868407 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1	copy number loss	See cases [RCV000239781]	Chr11:120615374..134868407 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	copy number loss	See cases [RCV000511335]	Chr11:121416261..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	copy number gain	not provided [RCV000767816]	Chr11:116700253..134904063 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	copy number gain	See cases [RCV000449449]	Chr11:116681007..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1	copy number loss	See cases [RCV000447077]	Chr11:119513909..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1	copy number loss	See cases [RCV000445814]	Chr11:121501072..134868348 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3	copy number gain	See cases [RCV000447848]	Chr11:116684163..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1	copy number loss	See cases [RCV000449003]	Chr11:121559102..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1	copy number loss	See cases [RCV000448215]	Chr11:122403610..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	copy number gain	See cases [RCV000511146]	Chr11:122884694..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	copy number loss	See cases [RCV000511283]	Chr11:120527021..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	copy number loss	See cases [RCV000510856]	Chr11:121136603..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	copy number gain	See cases [RCV000512291]	Chr11:116681007..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	copy number loss	not provided [RCV000683371]	Chr11:119538664..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	copy number gain	not provided [RCV000683373]	Chr11:116681007..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
Single allele	duplication	Schizophrenia [RCV000754124]	Chr11:118989374..135076622 [GRCh38] Chr11:11q23.3-25	likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3	copy number gain	not provided [RCV000737686]	Chr11:116697066..134934063 [GRCh37] Chr11:11q23.3-25	pathogenic
NM_001004474.2(OR10S1):c.431G>C (p.Arg144Thr)	single nucleotide variant	Inborn genetic diseases [RCV003246026]	Chr11:123977234 [GRCh38] Chr11:123847941 [GRCh37] Chr11:11q24.1	uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	copy number gain	not provided [RCV000767667]	Chr11:116691675..134889485 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	copy number gain	not provided [RCV000848151]	Chr11:117830263..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	copy number loss	See cases [RCV000790567]	Chr11:120576984..134934063 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	copy number loss	not provided [RCV001006452]	Chr11:120742540..134938470 [GRCh37] Chr11:11q23.3-25	pathogenic
Single allele	deletion	Short stature [RCV001003892]	Chr11:114433313..131230466 [GRCh37] Chr11:11q23.2-25	likely pathogenic
NC_000011.9:g.104288964_134937416dup	duplication	Distal trisomy 11q [RCV001250234]	Chr11:104288964..134937416 [GRCh37] Chr11:11q22.3-25	pathogenic
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	copy number gain	not provided [RCV001829187]	Chr11:112375478..128785742 [GRCh37] Chr11:11q23.1-24.3	pathogenic
NC_000011.9:g.(?_123504851)_(126163012_?)dup	duplication	Holoprosencephaly 11 [RCV001871151]	Chr11:123504851..126163012 [GRCh37] Chr11:11q24.1-24.2	uncertain significance
NC_000011.9:g.(?_123504851)_(126163012_?)del	deletion	Holoprosencephaly 11 [RCV003119757]\|not provided [RCV003119756]	Chr11:123504851..126163012 [GRCh37] Chr11:11q24.1-24.2	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	copy number loss	11q partial monosomy syndrome [RCV003236728]	Chr11:120531028..134257553 [GRCh37] Chr11:11q23.3-25	pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	copy number loss	not provided [RCV002474497]	Chr11:122975824..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
NM_001004474.2(OR10S1):c.425A>G (p.Asn142Ser)	single nucleotide variant	Inborn genetic diseases [RCV002902446]	Chr11:123977240 [GRCh38] Chr11:123847947 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.262G>A (p.Gly88Ser)	single nucleotide variant	Inborn genetic diseases [RCV002902330]	Chr11:123977403 [GRCh38] Chr11:123848110 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.908C>T (p.Ala303Val)	single nucleotide variant	Inborn genetic diseases [RCV002902831]	Chr11:123976757 [GRCh38] Chr11:123847464 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.205C>A (p.His69Asn)	single nucleotide variant	Inborn genetic diseases [RCV002950302]	Chr11:123977460 [GRCh38] Chr11:123848167 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.836T>A (p.Val279Asp)	single nucleotide variant	Inborn genetic diseases [RCV002844755]	Chr11:123976829 [GRCh38] Chr11:123847536 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.87C>A (p.Ser29Arg)	single nucleotide variant	Inborn genetic diseases [RCV002783538]	Chr11:123977578 [GRCh38] Chr11:123848285 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.22C>A (p.Pro8Thr)	single nucleotide variant	Inborn genetic diseases [RCV002659894]	Chr11:123977643 [GRCh38] Chr11:123848350 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.356T>C (p.Leu119Pro)	single nucleotide variant	Inborn genetic diseases [RCV002768531]	Chr11:123977309 [GRCh38] Chr11:123848016 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.700C>T (p.Arg234Cys)	single nucleotide variant	Inborn genetic diseases [RCV002985119]	Chr11:123976965 [GRCh38] Chr11:123847672 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.844A>C (p.Thr282Pro)	single nucleotide variant	Inborn genetic diseases [RCV002921662]	Chr11:123976821 [GRCh38] Chr11:123847528 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.541T>C (p.Tyr181His)	single nucleotide variant	Inborn genetic diseases [RCV002655880]	Chr11:123977124 [GRCh38] Chr11:123847831 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.745C>A (p.Gln249Lys)	single nucleotide variant	Inborn genetic diseases [RCV002655331]	Chr11:123976920 [GRCh38] Chr11:123847627 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.694C>T (p.Arg232Cys)	single nucleotide variant	Inborn genetic diseases [RCV003196632]	Chr11:123976971 [GRCh38] Chr11:123847678 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.301G>A (p.Gly101Ser)	single nucleotide variant	Inborn genetic diseases [RCV003344336]	Chr11:123977364 [GRCh38] Chr11:123848071 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.509G>A (p.Arg170His)	single nucleotide variant	Inborn genetic diseases [RCV003364102]	Chr11:123977156 [GRCh38] Chr11:123847863 [GRCh37] Chr11:11q24.1	uncertain significance
NM_001004474.2(OR10S1):c.686C>T (p.Ala229Val)	single nucleotide variant	Inborn genetic diseases [RCV003383329]	Chr11:123976979 [GRCh38] Chr11:123847686 [GRCh37] Chr11:11q24.1	uncertain significance
Single allele	duplication	not provided [RCV003448710]	Chr11:102134973..134945611 [GRCh37] Chr11:11q22.2-25	pathogenic
GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	copy number loss	not specified [RCV003986947]	Chr11:123523103..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic
GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1	copy number loss	not specified [RCV003986915]	Chr11:121183636..127620828 [GRCh37] Chr11:11q23.3-24.2	pathogenic
GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	copy number loss	not specified [RCV003986923]	Chr11:121423232..134938470 [GRCh37] Chr11:11q24.1-25	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	154
Count of miRNA genes:	153
Interacting mature miRNAs:	154
Transcripts:	ENST00000531945
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.

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

Below cutoff

182

174

123

205

125

294

238

134

140

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001004474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB065758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC019108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF399565	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP001884	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137038	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290537	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000531945 ⟹ ENSP00000431914

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	123,976,661 - 123,977,781 (-)	Ensembl

RefSeq Acc Id:

ENST00000641123 ⟹ ENSP00000493143

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	123,976,661 - 123,977,781 (-)	Ensembl

RefSeq Acc Id:

NM_001004474 ⟹ NP_001004474

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	123,976,661 - 123,977,781 (-)	NCBI
GRCh37	11	123,847,403 - 123,848,398 (-)	RGD
Build 36	11	123,352,613 - 123,353,608 (-)	NCBI Archive
Celera	11	121,006,598 - 121,007,593 (-)	RGD
HuRef	11	119,788,191 - 119,789,186 (-)	ENTREZGENE
CHM1_1	11	123,733,565 - 123,734,560 (-)	NCBI
T2T-CHM13v2.0	11	124,005,286 - 124,006,406 (-)	NCBI

Sequence:

show sequence

ATGACTAGCCGCTCTGTGTGTGAGAAGATGACCATGACAACGGAGAACCCCAACCAGACTGTGG
TGAGCCACTTCTTCCTGGAGGGTTTGAGGTACACCGCTAAACATTCTAGCCTCTTCTTCCTCCT
CTTCCTCCTCATCTACAGCATCACTGTGGCTGGGAATCTCCTCATCCTCCTAACTGTGGGCTCT
GACTCTCACCTCAGCTTACCCATGTACCACTTCCTGGGGCACCTCTCCTTCCTGGATGCCTGTT
TGTCTACAGTGACAGTGCCCAAGGTCATGGCAGGCCTGCTGACTCTGGATGGGAAGGTGATCTC
CTTTGAGGGCTGTGCCGTACAGCTTTATTGCTTCCACTTTCTGGCCAGCACTGAGTGCTTCCTG
TACACAGTCATGGCCTATGACCGCTATCTGGCTATCTGTCAACCCCTGCACTACCCAGTGGCCA
TGAACAGAAGGATGTGTGCAGAAATGGCTGGAATCACCTGGGCCATAGGTGCCACGCACGCTGC
AATCCACACCTCCCTCACCTTCCGCCTGCTCTACTGTGGGCCTTGCCACATTGCCTACTTCTTC
TGCGACATACCCCCTGTCCTAAAGCTCGCCTGTACAGACACCACCATTAATGAGCTAGTCATGC
TTGCCAGCATTGGCATCGTGGCTGCAGGCTGCCTCATCCTCATCGTTATTTCCTACATCTTCAT
CGTGGCAGCTGTGTTGCGCATCCGCACAGCCCAGGGCCGGCAGCGGGCCTTCTCCCCCTGCACT
GCCCAGCTCACTGGGGTGCTCCTGTACTACGTGCCACCTGTCTGTATCTACCTGCAGCCTCGCT
CCAGTGAGGCAGGAGCTGGGGCCCCTGCTGTCTTCTACACAATCGTAACTCCAATGCTCAACCC
ATTCATTTACACTTTGCGGAACAAGGAGGTGAAGCATGCTCTGCAAAGGCTTTTGTGCAGCAGC
TTCCGAGAGTCTACAGCAGGCAGCCCACCCCCATAG

hide sequence

Protein Sequences


Protein RefSeqs	NP_001004474	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI37038	(Get FASTA)	NCBI Sequence Viewer
	AAI37039	(Get FASTA)	NCBI Sequence Viewer
	AAK95050	(Get FASTA)	NCBI Sequence Viewer
	BAC05978	(Get FASTA)	NCBI Sequence Viewer
	DAA04907	(Get FASTA)	NCBI Sequence Viewer
	EAW67563	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000493143
	ENSP00000493143.1
GenBank Protein	Q8NGN2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001004474 ⟸ NM_001004474

- UniProtKB:

Q96R78 (UniProtKB/Swiss-Prot), Q8NGN2 (UniProtKB/Swiss-Prot), Q6IEV3 (UniProtKB/Swiss-Prot), B9EH43 (UniProtKB/Swiss-Prot), A0A286YF54 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MTSRSVCEKMTMTTENPNQTVVSHFFLEGLRYTAKHSSLFFLLFLLIYSITVAGNLLILLTVGS
DSHLSLPMYHFLGHLSFLDACLSTVTVPKVMAGLLTLDGKVISFEGCAVQLYCFHFLASTECFL
YTVMAYDRYLAICQPLHYPVAMNRRMCAEMAGITWAIGATHAAIHTSLTFRLLYCGPCHIAYFF
CDIPPVLKLACTDTTINELVMLASIGIVAAGCLILIVISYIFIVAAVLRIRTAQGRQRAFSPCT
AQLTGVLLYYVPPVCIYLQPRSSEAGAGAPAVFYTIVTPMLNPFIYTLRNKEVKHALQRLLCSS
FRESTAGSPPP

hide sequence

RefSeq Acc Id:

ENSP00000431914 ⟸ ENST00000531945

RefSeq Acc Id:

ENSP00000493143 ⟸ ENST00000641123

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NGN2-F1-model_v2	AlphaFold	Q8NGN2	1-331	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:14807	AgrOrtholog
COSMIC	OR10S1	COSMIC
Ensembl Genes	ENSG00000196248	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000641123	ENTREZGENE
	ENST00000641123.1	UniProtKB/TrEMBL
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000196248	GTEx
HGNC ID	HGNC:14807	ENTREZGENE
Human Proteome Map	OR10S1	Human Proteome Map
InterPro	GPCR_Rhodpsn	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Olfact_rcpt	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:219873	UniProtKB/Swiss-Prot
NCBI Gene	219873	ENTREZGENE
PANTHER	OLFACTORY RECEPTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OLFACTORY RECEPTOR 10S1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	7tm_4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA31999	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OLFACTORYR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	G_PROTEIN_RECEP_F1_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Family A G protein-coupled receptor-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A286YF54	ENTREZGENE, UniProtKB/TrEMBL
	B9EH43	ENTREZGENE
	O10S1_HUMAN	UniProtKB/Swiss-Prot
	Q6IEV3	ENTREZGENE
	Q8NGN2	ENTREZGENE
	Q96R78	ENTREZGENE
UniProt Secondary	B9EH43	UniProtKB/Swiss-Prot
	Q6IEV3	UniProtKB/Swiss-Prot
	Q96R78	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	OR10S1	olfactory receptor family 10 subfamily S member 1	OR10S1	olfactory receptor, family 10, subfamily S, member 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar