OR14I1 (olfactory receptor family 14 subfamily I member 1) - Rat Genome Database
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Gene: OR14I1 (olfactory receptor family 14 subfamily I member 1) Homo sapiens
Analyze
Symbol: OR14I1
Name: olfactory receptor family 14 subfamily I member 1
RGD ID: 1349157
HGNC Page HGNC
Description: Predicted to have odorant binding activity and olfactory receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and detection of chemical stimulus involved in sensory perception of smell. Predicted to localize to plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: olfactory receptor 14I1; olfactory receptor 5BU1; olfactory receptor, family 14, subfamily I, member 1; olfactory receptor, family 5, subfamily BU, member 1 pseudogene; OR5BU1; OR5BU1P
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1248,681,322 - 248,682,328 (-)EnsemblGRCh38hg38GRCh38
GRCh381248,678,140 - 248,685,488 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371248,844,580 - 248,862,258 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,911,293 - 246,912,228 (-)NCBINCBI36hg18NCBI36
Build 341245,170,710 - 245,171,646NCBI
Celera1222,141,262 - 222,142,197 (-)NCBI
Cytogenetic Map1q44NCBI
HuRef1219,219,450 - 219,220,385 (-)NCBIHuRef
CHM1_11250,116,969 - 250,117,904 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:19322201   PMID:21873635   PMID:30021884   PMID:32126975   PMID:32296183  


Genomics

Comparative Map Data
OR14I1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1248,681,322 - 248,682,328 (-)EnsemblGRCh38hg38GRCh38
GRCh381248,678,140 - 248,685,488 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371248,844,580 - 248,862,258 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,911,293 - 246,912,228 (-)NCBINCBI36hg18NCBI36
Build 341245,170,710 - 245,171,646NCBI
Celera1222,141,262 - 222,142,197 (-)NCBI
Cytogenetic Map1q44NCBI
HuRef1219,219,450 - 219,220,385 (-)NCBIHuRef
CHM1_11250,116,969 - 250,117,904 (-)NCBICHM1_1
Olfr465-ps1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391365,292,075 - 65,293,022 (+)NCBIGRCm39mm39
GRCm381365,144,261 - 65,145,208 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1365,138,089 - 65,146,047 (+)EnsemblGRCm38mm10GRCm38
MGSCv371365,245,569 - 65,246,516 (+)NCBIGRCm37mm9NCBIm37
MGSCv361365,159,052 - 65,159,999 (+)NCBImm8
Celera1366,784,967 - 66,785,915 (+)NCBICelera
Cytogenetic Map13B3NCBI
Olr1457
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01044,749,538 - 44,750,464 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1044,749,538 - 44,750,464 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01044,509,843 - 44,510,769 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41045,035,142 - 45,036,068 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11045,048,764 - 45,049,691 (-)NCBI
Celera1042,799,441 - 42,800,367 (-)NCBICelera
Cytogenetic Map10q22NCBI
LOC102020806
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541830,137,608 - 30,139,452 (-)NCBIChiLan1.0ChiLan1.0
LOC100991907
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v01224,352,344 - 224,356,860 (-)NCBIMhudiblu_PPA_v0panPan3
OR14I2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl142,783,888 - 2,784,823 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1142,783,745 - 2,784,871 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
LOC103230977
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12585,396,247 - 85,409,980 (+)NCBI
ChlSab1.1 Ensembl2585,408,820 - 85,409,755 (+)Ensembl

Position Markers
AL009992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,845,604 - 248,845,739UniSTSGRCh37
Build 361246,912,227 - 246,912,362RGDNCBI36
Celera1222,142,196 - 222,142,331RGD
Cytogenetic Map1q44UniSTS
HuRef1219,220,384 - 219,220,519UniSTS
OR5BU1__5908  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,844,713 - 248,845,273UniSTSGRCh37
Build 361246,911,336 - 246,911,896RGDNCBI36
Celera1222,141,305 - 222,141,865RGD
HuRef1219,219,493 - 219,220,053UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:51
Count of miRNA genes:50
Interacting mature miRNAs:51
Transcripts:ENST00000342623
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 3
Low 1 2 1 162 1 8 1 824 11 197 6 1 4
Below cutoff 208 146 83 32 248 19 407 91 825 129 339 114 14 108 214 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000342623   ⟹   ENSP00000339726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1248,681,322 - 248,682,328 (-)Ensembl
RefSeq Acc Id: NM_001004734   ⟹   NP_001004734
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,678,140 - 248,685,488 (-)NCBI
GRCh371248,844,580 - 248,862,258 (-)NCBI
Build 361246,911,293 - 246,912,228 (-)NCBI Archive
Celera1222,141,262 - 222,142,197 (-)RGD
HuRef1219,219,450 - 219,220,385 (-)RGD
CHM1_11250,116,969 - 250,117,904 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001004734 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6ND48 (Get FASTA)   NCBI Sequence Viewer  
  AAI37189 (Get FASTA)   NCBI Sequence Viewer  
  AAI37190 (Get FASTA)   NCBI Sequence Viewer  
  ALI87665 (Get FASTA)   NCBI Sequence Viewer  
  EAW57530 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001004734   ⟸   NM_001004734
- UniProtKB: A6ND48 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000339726   ⟸   ENST00000342623


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239657468-248918610)x3 copy number gain See cases [RCV000051886] Chr1:239657468..248918610 [GRCh38]
Chr1:239820768..249212809 [GRCh37]
Chr1:237887391..247179432 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3 copy number gain See cases [RCV000051888] Chr1:240244444..248891309 [GRCh38]
Chr1:240407744..249185508 [GRCh37]
Chr1:238474367..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3 copy number gain See cases [RCV000053504] Chr1:242828731..248891309 [GRCh38]
Chr1:242992033..249185508 [GRCh37]
Chr1:241058656..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:243055227-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053506]|See cases [RCV000053506] Chr1:243055227..248918469 [GRCh38]
Chr1:243218529..249212668 [GRCh37]
Chr1:241285152..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:245584222-248918610)x1 copy number loss See cases [RCV000054067] Chr1:245584222..248918610 [GRCh38]
Chr1:245747524..249212809 [GRCh37]
Chr1:243814147..247179432 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:246386899-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054068]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054068]|See cases [RCV000054068] Chr1:246386899..248918469 [GRCh38]
Chr1:246550201..249212668 [GRCh37]
Chr1:244616824..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:247092432-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054069]|See cases [RCV000054069] Chr1:247092432..248918469 [GRCh38]
Chr1:247255734..249212668 [GRCh37]
Chr1:245322357..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44
pathogenic
GRCh38/hg38 1q43-44(chr1:237041745-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053989]|See cases [RCV000053989] Chr1:237041745..248918469 [GRCh38]
Chr1:237205045..249212668 [GRCh37]
Chr1:235271668..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238061020-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053991]|See cases [RCV000053991] Chr1:238061020..248918469 [GRCh38]
Chr1:238224320..249212668 [GRCh37]
Chr1:236290943..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239496961-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053993]|See cases [RCV000053993] Chr1:239496961..248918469 [GRCh38]
Chr1:239660261..249212668 [GRCh37]
Chr1:237726884..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1 copy number loss See cases [RCV000054023] Chr1:239558430..248918469 [GRCh38]
Chr1:239721730..249212668 [GRCh37]
Chr1:237788353..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1 copy number loss See cases [RCV000054024] Chr1:239629868..248924593 [GRCh38]
Chr1:239793168..249218792 [GRCh37]
Chr1:237859791..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1 copy number loss See cases [RCV000054025] Chr1:241047422..248924593 [GRCh38]
Chr1:241210722..249218792 [GRCh37]
Chr1:239277345..247185415 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1 copy number loss See cases [RCV000054028] Chr1:241757249..248891309 [GRCh38]
Chr1:241920551..249185508 [GRCh37]
Chr1:239987174..247152131 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242076868-248918469)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054029]|See cases [RCV000054029] Chr1:242076868..248918469 [GRCh38]
Chr1:242240170..249212668 [GRCh37]
Chr1:240306793..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:243786629-248918469)x1 copy number loss See cases [RCV000054061] Chr1:243786629..248918469 [GRCh38]
Chr1:243949931..249212668 [GRCh37]
Chr1:242016554..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:244498870-248918610)x1 copy number loss See cases [RCV000054064] Chr1:244498870..248918610 [GRCh38]
Chr1:244662172..249212809 [GRCh37]
Chr1:242728795..247179432 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q44(chr1:245312815-248918469)x3 copy number gain See cases [RCV000133864] Chr1:245312815..248918469 [GRCh38]
Chr1:245476117..249212668 [GRCh37]
Chr1:243542740..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1 copy number loss See cases [RCV000134751] Chr1:238753749..248918467 [GRCh38]
Chr1:238917049..249212666 [GRCh37]
Chr1:236983672..247179289 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1 copy number loss See cases [RCV000134172] Chr1:238351121..248918469 [GRCh38]
Chr1:238514421..249212668 [GRCh37]
Chr1:236581044..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q44(chr1:244582123-248918469)x1 copy number loss See cases [RCV000135611] Chr1:244582123..248918469 [GRCh38]
Chr1:244745425..249212668 [GRCh37]
Chr1:242812048..247179291 [NCBI36]
Chr1:1q44
pathogenic
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44
pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4 copy number gain See cases [RCV000137155] Chr1:242932576..248864636 [GRCh38]
Chr1:243095878..249158835 [GRCh37]
Chr1:241162501..247125458 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1 copy number loss See cases [RCV000137260] Chr1:240465122..248918469 [GRCh38]
Chr1:240628422..249212668 [GRCh37]
Chr1:238695045..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44
pathogenic
GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1 copy number loss See cases [RCV000139889] Chr1:242045279..248930485 [GRCh38]
Chr1:242208581..249224684 [GRCh37]
Chr1:240275204..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1 copy number loss See cases [RCV000140039] Chr1:238033575..248924534 [GRCh38]
Chr1:238196875..249218733 [GRCh37]
Chr1:236263498..247185356 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q44(chr1:248250956-248787141)x3 copy number gain See cases [RCV000141214] Chr1:248250956..248787141 [GRCh38]
Chr1:248414258..249081340 [GRCh37]
Chr1:246480881..247047963 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44
pathogenic
GRCh38/hg38 1q44(chr1:248400498-248698574)x3 copy number gain See cases [RCV000142901] Chr1:248400498..248698574 [GRCh38]
Chr1:248563799..248861875 [GRCh37]
Chr1:246630422..246928498 [NCBI36]
Chr1:1q44
benign
GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1 copy number loss See cases [RCV000142518] Chr1:237643281..248918469 [GRCh38]
Chr1:237806581..249212668 [GRCh37]
Chr1:235873204..247179291 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1 copy number loss See cases [RCV000143374] Chr1:238192880..248930485 [GRCh38]
Chr1:238356180..249224684 [GRCh37]
Chr1:236422803..247191307 [NCBI36]
Chr1:1q43-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
NM_001013355.1(OR2G6):c.32G>A (p.Gly11Glu) single nucleotide variant Malignant melanoma [RCV000060163] Chr1:248521678 [GRCh38]
Chr1:248684979 [GRCh37]
Chr1:246751602 [NCBI36]
Chr1:1q44
not provided
NM_001004693.1(OR2T10):c.879G>A (p.Arg293=) single nucleotide variant Malignant melanoma [RCV000060164] Chr1:248592890 [GRCh38]
Chr1:248756191 [GRCh37]
Chr1:246822814 [NCBI36]
Chr1:1q44
not provided
NM_001001824.1(OR2T27):c.306C>T (p.Phe102=) single nucleotide variant Malignant melanoma [RCV000060165] Chr1:248650579 [GRCh38]
Chr1:248813880 [GRCh37]
Chr1:246880503 [NCBI36]
Chr1:1q44
not provided
NM_001013355.1(OR2G6):c.945G>A (p.Lys315=) single nucleotide variant Malignant melanoma [RCV000064674] Chr1:248522591 [GRCh38]
Chr1:248685892 [GRCh37]
Chr1:246752515 [NCBI36]
Chr1:1q44
not provided
NM_001013355.1(OR2G6):c.946G>A (p.Asp316Asn) single nucleotide variant Malignant melanoma [RCV000064675] Chr1:248522592 [GRCh38]
Chr1:248685893 [GRCh37]
Chr1:246752516 [NCBI36]
Chr1:1q44
not provided
NM_001001821.1(OR2T34):c.704C>T (p.Ser235Phe) single nucleotide variant Malignant melanoma [RCV000064676] Chr1:248574054 [GRCh38]
Chr1:248737355 [GRCh37]
Chr1:246803978 [NCBI36]
Chr1:1q44
not provided
NM_001001821.1(OR2T34):c.296C>T (p.Pro99Leu) single nucleotide variant Malignant melanoma [RCV000064677] Chr1:248574462 [GRCh38]
Chr1:248737763 [GRCh37]
Chr1:246804386 [NCBI36]
Chr1:1q44
not provided
NM_001001821.1(OR2T34):c.295C>T (p.Pro99Ser) single nucleotide variant Malignant melanoma [RCV000064678] Chr1:248574463 [GRCh38]
Chr1:248737764 [GRCh37]
Chr1:246804387 [NCBI36]
Chr1:1q44
not provided
NM_001004693.1(OR2T10):c.758G>A (p.Gly253Glu) single nucleotide variant Malignant melanoma [RCV000064679] Chr1:248593011 [GRCh38]
Chr1:248756312 [GRCh37]
Chr1:246822935 [NCBI36]
Chr1:1q44
not provided
NM_001001964.1(OR2T11):c.483G>A (p.Met161Ile) single nucleotide variant Malignant melanoma [RCV000064680] Chr1:248626646 [GRCh38]
Chr1:248789947 [GRCh37]
Chr1:246856570 [NCBI36]
Chr1:1q44
not provided
NM_001001827.1(OR2T35):c.207C>T (p.Ile69=) single nucleotide variant Malignant melanoma [RCV000064681] Chr1:248639052 [GRCh38]
Chr1:248802353 [GRCh37]
Chr1:246868976 [NCBI36]
Chr1:1q44
not provided
NM_001001824.1(OR2T27):c.874C>T (p.Leu292Phe) single nucleotide variant Malignant melanoma [RCV000064682] Chr1:248650011 [GRCh38]
Chr1:248813312 [GRCh37]
Chr1:246879935 [NCBI36]
Chr1:1q44
not provided
GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4 copy number gain See cases [RCV000511337] Chr1:242324398..249224684 [GRCh37]
Chr1:1q43-44
likely pathogenic
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1 copy number loss See cases [RCV000240522] Chr1:243103401..249119318 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q43-44(chr1:237233879-249206548)x1 copy number loss See cases [RCV000447669] Chr1:237233879..249206548 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:239781260-249224684)x3 copy number gain See cases [RCV000447584] Chr1:239781260..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241601964-249224684)x1 copy number loss See cases [RCV000448028] Chr1:241601964..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3 copy number gain See cases [RCV000448507] Chr1:242656460..249213000 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q44(chr1:244197791-249224684)x4 copy number gain See cases [RCV000510563] Chr1:244197791..249224684 [GRCh37]
Chr1:1q44
likely pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q44(chr1:248572727-249224684)x3 copy number gain See cases [RCV000511097] Chr1:248572727..249224684 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:246753355-249224684)x3 copy number gain See cases [RCV000512337] Chr1:246753355..249224684 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44
pathogenic
GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1 copy number loss not provided [RCV000684716] Chr1:241051170..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:244797639-249224684)x1 copy number loss not provided [RCV000684725] Chr1:244797639..249224684 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q44(chr1:247846257-249224684)x1 copy number loss not provided [RCV000684732] Chr1:247846257..249224684 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44
pathogenic
GRCh37/hg19 1q44(chr1:248601320-248907678)x3 copy number gain not provided [RCV000736963] Chr1:248601320..248907678 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248698981-248885217)x3 copy number gain not provided [RCV000736967] Chr1:248698981..248885217 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248509182-248847828)x3 copy number gain not provided [RCV000749454] Chr1:248509182..248847828 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248509182-248862517)x3 copy number gain not provided [RCV000749455] Chr1:248509182..248862517 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248509182-248900100)x3 copy number gain not provided [RCV000749456] Chr1:248509182..248900100 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248509495-249062395)x3 copy number gain not provided [RCV000749457] Chr1:248509495..249062395 [GRCh37]
Chr1:1q44
benign
GRCh37/hg19 1q44(chr1:248753183-249142218)x1 copy number loss not provided [RCV001005217] Chr1:248753183..249142218 [GRCh37]
Chr1:1q44
uncertain significance
GRCh37/hg19 1q44(chr1:245341153-249212429) copy number loss not provided [RCV000767543] Chr1:245341153..249212429 [GRCh37]
Chr1:1q44
likely pathogenic
GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3 copy number gain not provided [RCV000849904] Chr1:238669293..249224684 [GRCh37]
Chr1:1q43-44
pathogenic
GRCh37/hg19 1q44(chr1:246565044-249224684)x1 copy number loss not provided [RCV000848153] Chr1:246565044..249224684 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q44(chr1:244379481-249224684)x1 copy number loss not provided [RCV000845861] Chr1:244379481..249224684 [GRCh37]
Chr1:1q44
pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q44(chr1:246853199-249181899)x1 copy number loss not provided [RCV001259601] Chr1:246853199..249181899 [GRCh37]
Chr1:1q44
likely pathogenic

Additional Information

Database Acc Id Source(s)
COSMIC OR14I1 COSMIC
Ensembl Genes ENSG00000189181 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000339726 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342623 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000189181 GTEx
HGNC ID HGNC:19575 ENTREZGENE
Human Proteome Map OR14I1 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
  Olfact_rcpt UniProtKB/Swiss-Prot
KEGG Report hsa:401994 UniProtKB/Swiss-Prot
NCBI Gene 401994 ENTREZGENE
OMIM 618516 OMIM
Pfam 7tm_4 UniProtKB/Swiss-Prot
PharmGKB PA162398443 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot
  OLFACTORYR UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
UniGene Hs.449973 ENTREZGENE
UniProt A6ND48 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RNZ0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 OR14I1  olfactory receptor family 14 subfamily I member 1    olfactory receptor, family 14, subfamily I, member 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 OR14I1  olfactory receptor, family 14, subfamily I, member 1  OR14I1  olfactory receptor, family 14, subfamily I, member 1  Symbol and/or name change 5135510 APPROVED