OR1E1 (olfactory receptor family 1 subfamily E member 1)

Gene: OR1E1 (olfactory receptor family 1 subfamily E member 1) Homo sapiens

Analyze

Symbol:

OR1E1

Name:

olfactory receptor family 1 subfamily E member 1

RGD ID:

1347689

HGNC Page

HGNC:8189

Description:

Predicted to enable olfactory receptor activity. Predicted to be involved in signal transduction. Predicted to be located in membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

HGM071; olfactory receptor 13-66; olfactory receptor 17-2/17-32; olfactory receptor 1E1; olfactory receptor 1E5; olfactory receptor 1E6; olfactory receptor 5-85; olfactory receptor OR17-18; olfactory receptor OR17-4; olfactory receptor, family 1, subfamily E, member 1; olfactory receptor, family 1, subfamily E, member 5; olfactory receptor, family 1, subfamily E, member 6; olfactory receptor, family 1, subfamily E, member 8 pseudogene; olfactory receptor, family 1, subfamily E, member 9 pseudogene; olfactory receptor-like protein HGMP07I; OR13-66; OR17-2; OR17-32; OR1E5; OR1E6; OR1E8P; OR1E9P; OR5-85; OST547

RGD Orthologs

Mouse

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	17	3,397,104 - 3,398,410 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	3,397,104 - 3,398,410 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	3,300,398 - 3,301,704 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	3,247,510 - 3,248,454 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	3,247,509 - 3,248,454	NCBI
Celera	17	3,314,483 - 3,315,427 (-)	NCBI		Celera
Cytogenetic Map	17	p13.3	NCBI
HuRef	17	3,193,259 - 3,194,203 (-)	NCBI		HuRef
CHM1_1	17	3,309,795 - 3,310,739 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	3,286,044 - 3,287,350 (-)	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

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

CGP 52608 (EXP)

crocidolite asbestos (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

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

G protein-coupled receptor signaling pathway (IEA)

sensory perception of smell (IEA,NAS)

signal transduction (IBA,IEA)

Cellular Component

membrane (IEA)

plasma membrane (IBA,IEA,TAS)

Molecular Function

G protein-coupled receptor activity (IEA)

olfactory receptor activity (IBA,IEA,NAS)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1370859	PMID:8004088	PMID:9500546	PMID:10673334	PMID:10706615	PMID:12213199	PMID:14983052	PMID:20379614	PMID:21873635	PMID:33961781

Genomics

Comparative Map Data

OR1E1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	3,397,104 - 3,398,410 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	3,397,104 - 3,398,410 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	3,300,398 - 3,301,704 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	3,247,510 - 3,248,454 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	3,247,509 - 3,248,454	NCBI
Celera	17	3,314,483 - 3,315,427 (-)	NCBI		Celera
Cytogenetic Map	17	p13.3	NCBI
HuRef	17	3,193,259 - 3,194,203 (-)	NCBI		HuRef
CHM1_1	17	3,309,795 - 3,310,739 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	3,286,044 - 3,287,350 (-)	NCBI		T2T-CHM13v2.0

Or1e1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	73,241,685 - 73,245,525 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	73,241,609 - 73,246,777 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	73,350,859 - 73,354,699 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	73,350,783 - 73,355,951 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	73,164,361 - 73,168,201 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	73,169,950 - 73,170,894 (+)	NCBI		MGSCv36	mm8
Celera	11	80,887,793 - 80,891,639 (+)	NCBI		Celera
Cytogenetic Map	11	B4	NCBI
cM Map	11	45.3	NCBI

Variants

Variants in OR1E1
10 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	copy number gain	See cases [RCV000052456]	Chr17:2357067..4328426 [GRCh38] Chr17:2260361..4231721 [GRCh37] Chr17:2207111..4178470 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	copy number loss	See cases [RCV000053384]	Chr17:193307..5652222 [GRCh38] Chr17:45835..5555542 [GRCh37] Chr17:43098..5496266 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]\|See cases [RCV000053386]	Chr17:198748..3436345 [GRCh38] Chr17:50690..3339639 [GRCh37] Chr17:48539..3286389 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1	copy number loss	See cases [RCV000053405]	Chr17:2527510..3467165 [GRCh38] Chr17:2430804..3370459 [GRCh37] Chr17:2377554..3317209 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	copy number gain	See cases [RCV000053972]	Chr17:3036729..3684667 [GRCh38] Chr17:2940023..3587961 [GRCh37] Chr17:2886773..3534710 [NCBI36] Chr17:17p13.3-13.2	uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3208843-3839780)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]\|See cases [RCV000053973]	Chr17:3208843..3839780 [GRCh38] Chr17:3112137..3743074 [GRCh37] Chr17:3058887..3689823 [NCBI36] Chr17:17p13.3-13.2	uncertain significance
NM_003553.2(OR1E1):c.132C>T (p.Leu44=)	single nucleotide variant	Malignant melanoma [RCV000071426]	Chr17:3398279 [GRCh38] Chr17:3301573 [GRCh37] Chr17:3248323 [NCBI36] Chr17:17p13.3	not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	copy number loss	See cases [RCV000133721]	Chr17:2062380..5258340 [GRCh38] Chr17:1965674..5161635 [GRCh37] Chr17:1912424..5102359 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	copy number loss	See cases [RCV000134135]	Chr17:162088..6959050 [GRCh38] Chr17:45835..6862369 [GRCh37] Chr17:11879..6803093 [NCBI36] Chr17:17p13.3-13.1	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3155468-3543868)x1	copy number loss	See cases [RCV000133921]	Chr17:3155468..3543868 [GRCh38] Chr17:3058762..3447162 [GRCh37] Chr17:3005512..3393912 [NCBI36] Chr17:17p13.3-13.2	benign
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	copy number gain	See cases [RCV000134970]	Chr17:198748..7491129 [GRCh38] Chr17:50690..7394448 [GRCh37] Chr17:48539..7335172 [NCBI36] Chr17:17p13.3-13.1	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	copy number loss	See cases [RCV000135857]	Chr17:226472..3655099 [GRCh38] Chr17:396627..3558393 [GRCh37] Chr17:76263..3505142 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	copy number gain	See cases [RCV000137603]	Chr17:1348488..3513273 [GRCh38] Chr17:1251782..3416567 [GRCh37] Chr17:1198532..3363317 [NCBI36] Chr17:17p13.3-13.2	likely pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	copy number gain	See cases [RCV000137331]	Chr17:3102273..3667053 [GRCh38] Chr17:3005567..3570347 [GRCh37] Chr17:2952317..3517096 [NCBI36] Chr17:17p13.3-13.2	likely pathogenic\|uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	copy number loss	See cases [RCV000138214]	Chr17:162016..7697012 [GRCh38] Chr17:45835..7600330 [GRCh37] Chr17:11807..7541055 [NCBI36] Chr17:17p13.3-13.1	pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	copy number gain	See cases [RCV000138531]	Chr17:162016..12343901 [GRCh38] Chr17:45835..12247218 [GRCh37] Chr17:11807..12187943 [NCBI36] Chr17:17p13.3-12	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	copy number gain	See cases [RCV000139738]	Chr17:2062429..4141883 [GRCh38] Chr17:1965723..4045177 [GRCh37] Chr17:1912473..3991926 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	copy number loss	See cases [RCV000141658]	Chr17:150732..5935377 [GRCh38] Chr17:525..5838697 [GRCh37] Chr17:525..5779421 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	copy number loss	See cases [RCV000141559]	Chr17:237248..4735533 [GRCh38] Chr17:396627..4638828 [GRCh37] Chr17:87039..4585577 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	copy number loss	See cases [RCV000142440]	Chr17:198748..4265640 [GRCh38] Chr17:50690..4168935 [GRCh37] Chr17:48539..4115684 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	copy number gain	See cases [RCV000142062]	Chr17:3168370..3862518 [GRCh38] Chr17:3071664..3765812 [GRCh37] Chr17:3018414..3712561 [NCBI36] Chr17:17p13.3-13.2	uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	copy number gain	See cases [RCV000142236]	Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2922729-3436438)x3	copy number gain	See cases [RCV000142895]	Chr17:2922729..3436438 [GRCh38] Chr17:2826023..3339732 [GRCh37] Chr17:2772773..3286482 [NCBI36] Chr17:17p13.3-13.2	pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	copy number gain	See cases [RCV000142793]	Chr17:3187406..3880628 [GRCh38] Chr17:3090700..3783922 [GRCh37] Chr17:3037450..3730671 [NCBI36] Chr17:17p13.3-13.2	uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	copy number gain	See cases [RCV000143610]	Chr17:3168370..3852982 [GRCh38] Chr17:3071664..3756276 [GRCh37] Chr17:3018414..3703025 [NCBI36] Chr17:17p13.3-13.2	likely benign\|uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	copy number gain	See cases [RCV000240175]	Chr17:919381..4046915 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1	copy number loss	See cases [RCV000445994]	Chr17:1751557..5378509 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	copy number gain	See cases [RCV000445679]	Chr17:1113102..6742486 [GRCh37] Chr17:17p13.3-13.1	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	copy number loss	See cases [RCV000448506]	Chr17:48858..3379400 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	copy number loss	See cases [RCV000511508]	Chr17:525..3825428 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	copy number gain	See cases [RCV000511786]	Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3	copy number gain	See cases [RCV000511855]	Chr17:1922768..3429136 [GRCh37] Chr17:17p13.3-13.2	likely pathogenic
NM_003553.3(OR1E1):c.743T>C (p.Val248Ala)	single nucleotide variant	Inborn genetic diseases [RCV003277592]	Chr17:3397668 [GRCh38] Chr17:3300962 [GRCh37] Chr17:17p13.3	uncertain significance
NM_003553.3(OR1E1):c.653A>G (p.Tyr218Cys)	single nucleotide variant	Inborn genetic diseases [RCV003248557]	Chr17:3397758 [GRCh38] Chr17:3301052 [GRCh37] Chr17:17p13.3	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)	copy number loss	Lissencephaly [RCV000626516]	Chr17:2339561..3447162 [GRCh37] Chr17:17p13.3-13.2	pathogenic
NM_003553.3(OR1E1):c.770G>A (p.Gly257Asp)	single nucleotide variant	Inborn genetic diseases [RCV003286795]	Chr17:3397641 [GRCh38] Chr17:3300935 [GRCh37] Chr17:17p13.3	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	copy number gain	See cases [RCV000512413]	Chr17:525..4151421 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2944083-3429136)x3	copy number gain	not provided [RCV000683878]	Chr17:2944083..3429136 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	copy number gain	not provided [RCV000683866]	Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1	copy number loss	not provided [RCV000739319]	Chr17:7214..3871323 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:3293338-3372179)x3	copy number gain	not provided [RCV000739373]	Chr17:3293338..3372179 [GRCh37] Chr17:17p13.3-13.2	benign
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1	copy number loss	not provided [RCV000751897]	Chr17:2050166..4315506 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586]	Chr17:47546..6287620 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:3288124-3441645)x1	copy number loss	not provided [RCV000849665]	Chr17:3288124..3441645 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:3160211-3424544)x3	copy number gain	not provided [RCV000846629]	Chr17:3160211..3424544 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3	copy number gain	not provided [RCV001006859]	Chr17:3146183..3646235 [GRCh37] Chr17:17p13.3-13.2	likely benign
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	copy number loss	See cases [RCV001007429]	Chr17:8547..5627408 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1	copy number loss	not provided [RCV001537893]	Chr17:2313096..3735525 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3	copy number gain	not provided [RCV001834365]	Chr17:2646815..3698838 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2809266-3424183)x3	copy number gain	not provided [RCV001827915]	Chr17:2809266..3424183 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
NC_000017.10:g.(?_2541583)_(3819519_?)del	deletion	not provided [RCV001901409]	Chr17:2541583..3819519 [GRCh37] Chr17:17p13.3-13.2	pathogenic
NC_000017.10:g.(?_1173858)_(3819519_?)dup	duplication	not provided [RCV002014058]	Chr17:1173858..3819519 [GRCh37] Chr17:17p13.3-13.2	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	copy number gain	not provided [RCV002472591]	Chr17:1095592..3484368 [GRCh37] Chr17:17p13.3-13.2	pathogenic
NM_003553.3(OR1E1):c.5T>C (p.Met2Thr)	single nucleotide variant	Inborn genetic diseases [RCV002777192]	Chr17:3398406 [GRCh38] Chr17:3301700 [GRCh37] Chr17:17p13.3	likely benign
NM_003553.3(OR1E1):c.514A>G (p.Asn172Asp)	single nucleotide variant	Inborn genetic diseases [RCV002752279]	Chr17:3397897 [GRCh38] Chr17:3301191 [GRCh37] Chr17:17p13.3	uncertain significance
NM_003553.3(OR1E1):c.175A>G (p.Met59Val)	single nucleotide variant	Inborn genetic diseases [RCV002980265]	Chr17:3398236 [GRCh38] Chr17:3301530 [GRCh37] Chr17:17p13.3	uncertain significance
NM_003553.3(OR1E1):c.838G>C (p.Val280Leu)	single nucleotide variant	Inborn genetic diseases [RCV002703162]	Chr17:3397573 [GRCh38] Chr17:3300867 [GRCh37] Chr17:17p13.3	uncertain significance
NM_003553.3(OR1E1):c.33C>A (p.Asp11Glu)	single nucleotide variant	Inborn genetic diseases [RCV003217613]	Chr17:3398378 [GRCh38] Chr17:3301672 [GRCh37] Chr17:17p13.3	likely benign
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	copy number gain	Chromosome 17p13.3 duplication syndrome [RCV003327726]	Chr17:165730..11404096 [GRCh38] Chr17:17p13.3-12	pathogenic
NM_003553.3(OR1E1):c.392A>G (p.His131Arg)	single nucleotide variant	Inborn genetic diseases [RCV003369046]	Chr17:3398019 [GRCh38] Chr17:3301313 [GRCh37] Chr17:17p13.3	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	copy number loss	not provided [RCV003483307]	Chr17:526..3441645 [GRCh37] Chr17:17p13.3-13.2	pathogenic
Single allele	deletion	not provided [RCV003448682]	Chr17:2..4611147 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1	copy number loss	not provided [RCV003483311]	Chr17:2433587..3484368 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	copy number loss	not specified [RCV003987214]	Chr17:9474..6017500 [GRCh37] Chr17:17p13.3-13.2	pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	copy number gain	not specified [RCV003987215]	Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2	pathogenic
GRCh37/hg19 17p13.2(chr17:3300933-3536977)x1	copy number loss	not specified [RCV003987243]	Chr17:3300933..3536977 [GRCh37] Chr17:17p13.2	uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3	copy number gain	not specified [RCV003987223]	Chr17:2674657..3484368 [GRCh37] Chr17:17p13.3-13.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	114
Count of miRNA genes:	110
Interacting mature miRNAs:	112
Transcripts:	ENST00000322608
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.

Markers in Region

RH75979

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	3,300,548 - 3,300,768	UniSTS	GRCh37
Build 36	17	3,247,298 - 3,247,518	RGD	NCBI36
Celera	17	3,314,271 - 3,314,491	RGD
Cytogenetic Map	17	p13.3	UniSTS
HuRef	17	3,193,047 - 3,193,267	UniSTS

D17S1152

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	3,302,422 - 3,302,681	UniSTS	GRCh37
Build 36	17	3,249,172 - 3,249,431	RGD	NCBI36
Celera	17	3,316,145 - 3,316,428	RGD
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	6	q21	UniSTS
HuRef	17	3,194,921 - 3,195,212	UniSTS
HuRef	6	104,510,766 - 104,511,107	UniSTS

OR1E1__7107

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	3,300,755 - 3,301,402	UniSTS	GRCh37
Build 36	17	3,247,505 - 3,248,152	RGD	NCBI36
Celera	17	3,314,478 - 3,315,125	RGD
HuRef	17	3,193,254 - 3,193,901	UniSTS

RH70864

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	3,300,437 - 3,300,580	UniSTS	GRCh37
Build 36	17	3,247,187 - 3,247,330	RGD	NCBI36
Celera	17	3,314,160 - 3,314,303	RGD
Cytogenetic Map	17	p13.3	UniSTS
HuRef	17	3,192,936 - 3,193,079	UniSTS
GeneMap99-GB4 RH Map	17	42.85	UniSTS
NCBI RH Map	17	54.6	UniSTS

UniSTS:480485

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	3,300,760 - 3,301,704	UniSTS	GRCh37
Celera	17	3,314,483 - 3,315,427	UniSTS
HuRef	17	3,193,259 - 3,194,203	UniSTS

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

195

140

176

161

Below cutoff

1029

856

450

229

2092

1188

1973

543

421

786

1417

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_003553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC087498	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF052041	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF087916	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF095725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF179761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF399550	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004237	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BK004353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290403	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KP290570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U04642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U04682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U78308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U86222	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U86274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X64994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000322608 ⟹ ENSP00000313384

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	3,397,104 - 3,398,410 (-)	Ensembl

RefSeq Acc Id:

NM_003553 ⟹ NP_003544

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	3,397,104 - 3,398,410 (-)	NCBI
GRCh37	17	3,300,760 - 3,301,704 (-)	RGD
Build 36	17	3,247,510 - 3,248,454 (-)	NCBI Archive
Celera	17	3,314,483 - 3,315,427 (-)	RGD
HuRef	17	3,193,259 - 3,194,203 (-)	RGD
CHM1_1	17	3,309,795 - 3,310,739 (-)	NCBI
T2T-CHM13v2.0	17	3,286,044 - 3,287,350 (-)	NCBI

Sequence:

show sequence

ATGATGGGACAAAATCAAACCAGCATCTCAGACTTCCTGCTCCTGGGCCTGCCCATCCAACCAG
AGCAGCAAAACCTGTGCTATGCCCTGTTCTTGGCCATGTATCTTACCACCCTCCTGGGGAACCT
CCTCATCATTGTCCTCATTCGACTGGACTCCCATCTCCACACGCCTATGTATTTGTTTCTCAGC
AACTTGTCCTTCTCTGACCTCTGCTTCTCTTCCGTGACCATTCCCAAGTTGTTACAGAACATGC
AGAACCAGGACCCATCCATCCCCTATGCGGACTGCCTGACCCAAATGTACTTCTTCCTGTTATT
TGGAGACCTGGAGAGCTTCCTCCTTGTGGCCATGGCCTATGACCGCTATGTGGCCATCTGCTTC
CCCCTGCACTACACCGCCATCATGAGCCCCATGCTCTGTCTCGCCCTGGTGGCGCTGTCCTGGG
TGCTGACCACCTTCCATGCCATGTTACACACTTTACTCATGGCCAGGTTGTGTTTTTGTGCAGA
CAATGTGATCCCCCACTTTTTCTGTGATATGTCTGCTCTGCTGAAGCTGGCCTTCTCTGACACT
CGAGTTAATGAATGGGTGATATTTATCATGGGAGGGCTCATTCTTGTCATCCCATTCCTACTCA
TCCTTGGGTCCTATGCAAGAATTGTCTCCTCCATCCTCAAGGTCCCTTCTTCTAAGGGTATCTG
CAAGGCCTTCTCTACTTGTGGCTCCCACCTGTCTGTGGTGTCACTGTTCTATGGAACCGTTATT
GGTCTCTACTTATGCTCATCAGCTAATAGTTCTACTCTAAAGGACACTGTCATGGCTATGATGT
ACACTGTGGTGACCCCCATGCTGAACCCCTTCATCTACAGCCTGAGGAACAGAGACATGAAGGG
AGCCCTGAGCAGAGTCATTCATCAGAAGAAAACTTTCTTCTCTCTCTGATGATAACACTTGGAG
CTATTACATAGTTTATCCAGTAAAATATTGATATTAATATTGGAATATTATTCTAAATTATTTC
CTCACCATCCTTTTGTTGAAATGGCATCGTACATAATTTTTCAATATGTAGTGGAGATGAAGCA
TAGCTGAGTAGTTGAACTAGGGAAGAGGGTCTTGGTGACCTGGCTAAGACTTCCTGTTTGTCTT
CCCAAGGTGATCTTGGAAAAATGTAGTTTAAGAACAACTGTTTTAAATGGTCTTCATGCCCCAC
ATTCTTAAATTATCACAGGATTTTGTTATGTTACTCAGAATTTTGCTTTGATTGTAGAATCATT
TTTGTTTAATTAAAAAAATTTTTAAAT

hide sequence

Protein Sequences


Protein RefSeqs	NP_003544	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA17447	(Get FASTA)	NCBI Sequence Viewer
	AAA18346	(Get FASTA)	NCBI Sequence Viewer
	AAC39613	(Get FASTA)	NCBI Sequence Viewer
	AAC39629	(Get FASTA)	NCBI Sequence Viewer
	AAD00276	(Get FASTA)	NCBI Sequence Viewer
	AAD17495	(Get FASTA)	NCBI Sequence Viewer
	AAF03261	(Get FASTA)	NCBI Sequence Viewer
	AAF37309	(Get FASTA)	NCBI Sequence Viewer
	AAF40350	(Get FASTA)	NCBI Sequence Viewer
	AAK95035	(Get FASTA)	NCBI Sequence Viewer
	ALI87498	(Get FASTA)	NCBI Sequence Viewer
	ALI87573	(Get FASTA)	NCBI Sequence Viewer
	ALI87728	(Get FASTA)	NCBI Sequence Viewer
	CAA46127	(Get FASTA)	NCBI Sequence Viewer
	DAA04635	(Get FASTA)	NCBI Sequence Viewer
	DAA04751	(Get FASTA)	NCBI Sequence Viewer
	EAW90515	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000313384
	ENSP00000313384.2
GenBank Protein	P30953	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_003544 ⟸ NM_003553
- UniProtKB:	Q9UBJ1 (UniProtKB/Swiss-Prot), Q6IFM5 (UniProtKB/Swiss-Prot), Q6IFA9 (UniProtKB/Swiss-Prot), P47885 (UniProtKB/Swiss-Prot), P47882 (UniProtKB/Swiss-Prot), O43884 (UniProtKB/Swiss-Prot), Q9UM60 (UniProtKB/Swiss-Prot), P30953 (UniProtKB/Swiss-Prot), A0A126GVS0 (UniProtKB/TrEMBL), A0A126GVU7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MMGQNQTSISDFLLLGLPIQPEQQNLCYALFLAMYLTTLLGNLLIIVLIRLDSHLHTPMYLFLS NLSFSDLCFSSVTIPKLLQNMQNQDPSIPYADCLTQMYFFLLFGDLESFLLVAMAYDRYVAICF PLHYTAIMSPMLCLALVALSWVLTTFHAMLHTLLMARLCFCADNVIPHFFCDMSALLKLAFSDT RVNEWVIFIMGGLILVIPFLLILGSYARIVSSILKVPSSKGICKAFSTCGSHLSVVSLFYGTVI GLYLCSSANSSTLKDTVMAMMYTVVTPMLNPFIYSLRNRDMKGALSRVIHQKKTFFSL hide sequence

RefSeq Acc Id:

ENSP00000313384 ⟸ ENST00000322608

Protein Domains

G-protein coupled receptors family 1 profile

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P30953-F1-model_v2	AlphaFold	P30953	1-314	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:8189	AgrOrtholog
COSMIC	OR1E1	COSMIC
Ensembl Genes	ENSG00000180016	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000322608	ENTREZGENE
	ENST00000322608.2	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000180016	GTEx
HGNC ID	HGNC:8189	ENTREZGENE
Human Proteome Map	OR1E1	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:8387	UniProtKB/Swiss-Prot
NCBI Gene	8387	ENTREZGENE
PANTHER	OLFACTORY RECEPTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OLFACTORY RECEPTOR 1E1-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	7tm_4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA32062	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OLFACTORYR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	G_PROTEIN_RECEP_F1_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	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	A0A126GVS0	ENTREZGENE, UniProtKB/TrEMBL
	A0A126GVU7	ENTREZGENE, UniProtKB/TrEMBL
	O43884	ENTREZGENE
	OR1E1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	P47882	ENTREZGENE
	P47885	ENTREZGENE
	Q6IFA9	ENTREZGENE
	Q6IFM5	ENTREZGENE
	Q9UBJ1	ENTREZGENE
	Q9UM60	ENTREZGENE
UniProt Secondary	O43884	UniProtKB/Swiss-Prot
	P47882	UniProtKB/Swiss-Prot
	P47885	UniProtKB/Swiss-Prot
	Q6IFA9	UniProtKB/Swiss-Prot
	Q6IFM5	UniProtKB/Swiss-Prot
	Q9UBJ1	UniProtKB/Swiss-Prot
	Q9UM60	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	OR1E1	olfactory receptor family 1 subfamily E member 1	OR1E1	olfactory receptor, family 1, subfamily E, 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)

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Imported Disease Annotations - ClinVar