ADGRE1 (adhesion G protein-coupled receptor E1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ADGRE1 (adhesion G protein-coupled receptor E1) Homo sapiens
Analyze
Symbol: ADGRE1
Name: adhesion G protein-coupled receptor E1
RGD ID: 1342649
HGNC Page HGNC:3336
Description: Predicted to enable G protein-coupled receptor activity. Predicted to be involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Predicted to be located in external side of plasma membrane. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: egf-like module containing, mucin-like, hormone receptor-like 1; egf-like module containing, mucin-like, hormone receptor-like sequence 1; EGF-like module receptor 1; EGF-like module-containing mucin-like hormone receptor-like 1; EMR1; EMR1 hormone receptor; TM7LN3
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
GRCh38196,887,579 - 6,940,450 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,887,566 - 6,940,459 (+)EnsemblGRCh38hg38GRCh38
GRCh37196,887,590 - 6,940,461 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,838,582 - 6,891,464 (+)NCBINCBI36Build 36hg18NCBI36
Build 34196,838,581 - 6,891,463NCBI
Celera196,829,806 - 6,881,535 (+)NCBICelera
Cytogenetic Map19p13.3-p13.2NCBI
HuRef196,649,934 - 6,703,041 (+)NCBIHuRef
CHM1_1196,887,377 - 6,940,296 (+)NCBICHM1_1
T2T-CHM13v2.0196,876,897 - 6,929,770 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(2R,4R)-1-[(2S)-5-(diaminomethylideneamino)-2-[(3-methyl-1,2,3,4-tetrahydroquinolin-8-yl)sulfonylamino]-1-oxopentyl]-4-methyl-2-piperidinecarboxylic acid  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-aminopurine  (ISO)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3'-diindolylmethane  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acrylamide  (ISO)
adenine  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
allyl methyl disulfide  (ISO)
amlexanox  (ISO)
amphetamine  (ISO)
argatroban  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
aspartame  (ISO)
atorvastatin calcium  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
carnosic acid  (ISO)
cefaloridine  (ISO)
celastrol  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
cobalt atom  (ISO)
cocaine  (ISO)
conjugated linoleic acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dioxygen  (ISO)
emodin  (ISO)
erlotinib hydrochloride  (EXP)
ethanol  (ISO)
ferric oxide  (ISO)
flavokawain B  (ISO)
folic acid  (ISO)
fructose  (ISO)
gadolinium trichloride  (ISO)
GW 4064  (ISO)
hexadecanoic acid  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
metformin  (ISO)
methotrexate  (ISO)
methylglyoxal  (ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N,N-dimethylformamide  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (ISO)
olaparib  (ISO)
oxycodone  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
propanal  (EXP)
quercetin  (ISO)
Rhein  (ISO)
rimonabant  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
Soman  (ISO)
streptozocin  (ISO)
tamibarotene  (EXP)
taurine  (ISO)
temozolomide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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:7601460   PMID:9383301   PMID:9500513   PMID:10501980   PMID:10903844   PMID:12477932   PMID:15489334   PMID:16344560   PMID:17823986   PMID:20424473   PMID:20625511   PMID:21873635  
PMID:23459936   PMID:25713288   PMID:28005267   PMID:34486997   PMID:38673975  


Genomics

Comparative Map Data
ADGRE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,887,579 - 6,940,450 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,887,566 - 6,940,459 (+)EnsemblGRCh38hg38GRCh38
GRCh37196,887,590 - 6,940,461 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,838,582 - 6,891,464 (+)NCBINCBI36Build 36hg18NCBI36
Build 34196,838,581 - 6,891,463NCBI
Celera196,829,806 - 6,881,535 (+)NCBICelera
Cytogenetic Map19p13.3-p13.2NCBI
HuRef196,649,934 - 6,703,041 (+)NCBIHuRef
CHM1_1196,887,377 - 6,940,296 (+)NCBICHM1_1
T2T-CHM13v2.0196,876,897 - 6,929,770 (+)NCBIT2T-CHM13v2.0
Adgre1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,665,650 - 57,790,527 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1757,665,691 - 57,790,527 (+)EnsemblGRCm39 Ensembl
GRCm381757,358,581 - 57,483,529 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1757,358,691 - 57,483,527 (+)EnsemblGRCm38mm10GRCm38
MGSCv371757,498,109 - 57,622,952 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361757,044,026 - 57,168,862 (+)NCBIMGSCv36mm8
Celera1761,708,492 - 61,834,039 (+)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.8NCBI
Adgre1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr892,329,398 - 2,484,959 (+)NCBIGRCr8
mRatBN7.292,242,476 - 2,398,000 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl92,242,474 - 2,398,000 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx92,669,775 - 2,827,086 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.098,019,173 - 8,176,462 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.096,975,024 - 7,132,310 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.099,431,888 - 9,585,883 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl99,431,860 - 9,585,865 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.098,434,335 - 8,593,088 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,128,947 - 6,277,689 (-)NCBICelera
Cytogenetic Map9q11NCBI
Adgre1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554952,601,413 - 2,674,738 (-)NCBIChiLan1.0ChiLan1.0
ADGRE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22011,298,860 - 11,350,817 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11910,524,065 - 10,577,171 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0195,918,097 - 5,970,069 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1196,838,787 - 6,891,292 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl196,838,787 - 6,891,292 (+)Ensemblpanpan1.1panPan2
ADGRE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12053,404,096 - 53,465,267 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2053,404,457 - 53,465,243 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,154,280 - 53,214,040 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02054,058,184 - 54,120,272 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2054,058,548 - 54,120,242 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12053,126,876 - 53,187,421 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02053,574,601 - 53,635,395 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02053,803,931 - 53,864,739 (-)NCBIUU_Cfam_GSD_1.0
Adgre1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118213,665,444 - 213,704,306 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365884,138,872 - 4,167,069 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365884,127,497 - 4,169,323 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADGRE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1272,217,036 - 72,305,925 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2272,699,549 - 72,739,448 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADGRE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.166,444,621 - 6,499,438 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660811,452,580 - 1,539,330 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adgre1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248283,930,483 - 3,981,966 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADGRE1
76 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
NM_001974.4(ADGRE1):c.1050T>G (p.Cys350Trp) single nucleotide variant Malignant melanoma [RCV000072440] Chr19:6908700 [GRCh38]
Chr19:6908711 [GRCh37]
Chr19:6859711 [NCBI36]
Chr19:19p13.2		 not provided
NM_001974.4(ADGRE1):c.2169G>A (p.Leu723=) single nucleotide variant Malignant melanoma [RCV000063663] Chr19:6926548 [GRCh38]
Chr19:6926559 [GRCh37]
Chr19:6877559 [NCBI36]
Chr19:19p13.2		 not provided
GRCh38/hg38 19p13.3-13.2(chr19:6870105-7103344)x3 copy number gain See cases [RCV000137045] Chr19:6870105..7103344 [GRCh38]
Chr19:6870116..7103355 [GRCh37]
Chr19:6821116..7054355 [NCBI36]
Chr19:19p13.3-13.2		 benign
GRCh38/hg38 19p13.2(chr19:6916104-7103194)x3 copy number gain See cases [RCV000138861] Chr19:6916104..7103194 [GRCh38]
Chr19:6916115..7103205 [GRCh37]
Chr19:6867115..7054205 [NCBI36]
Chr19:19p13.2		 likely benign
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 copy number gain See cases [RCV000139338] Chr19:5905175..6916287 [GRCh38]
Chr19:5905186..6916298 [GRCh37]
Chr19:5856186..6867298 [NCBI36]
Chr19:19p13.3-13.2		 uncertain significance
GRCh38/hg38 19p13.2(chr19:6916228-7103285)x3 copy number gain See cases [RCV000140175] Chr19:6916228..7103285 [GRCh38]
Chr19:6916239..7103296 [GRCh37]
Chr19:6867239..7054296 [NCBI36]
Chr19:19p13.2		 benign
GRCh38/hg38 19p13.2(chr19:6916228-7103344)x3 copy number gain See cases [RCV000141462] Chr19:6916228..7103344 [GRCh38]
Chr19:6916239..7103355 [GRCh37]
Chr19:6867239..7054355 [NCBI36]
Chr19:19p13.2		 benign
NM_001974.5(ADGRE1):c.1058T>G (p.Ile353Arg) single nucleotide variant not specified [RCV004307066] Chr19:6908708 [GRCh38]
Chr19:6908719 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001974.5(ADGRE1):c.274G>C (p.Gly92Arg) single nucleotide variant not provided [RCV000950009] Chr19:6897184 [GRCh38]
Chr19:6897195 [GRCh37]
Chr19:19p13.3		 benign
NM_001974.5(ADGRE1):c.2654C>T (p.Thr885Met) single nucleotide variant not provided [RCV000962609] Chr19:6937647 [GRCh38]
Chr19:6937658 [GRCh37]
Chr19:19p13.2		 benign
NM_001974.5(ADGRE1):c.1290G>A (p.Thr430=) single nucleotide variant ADGRE1-related disorder [RCV003970462]|not provided [RCV000918346] Chr19:6913820 [GRCh38]
Chr19:6913831 [GRCh37]
Chr19:19p13.2		 benign|likely benign
NM_001974.5(ADGRE1):c.1546G>C (p.Val516Leu) single nucleotide variant not specified [RCV004318597] Chr19:6919673 [GRCh38]
Chr19:6919684 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.374C>T (p.Pro125Leu) single nucleotide variant not specified [RCV004297969] Chr19:6897284 [GRCh38]
Chr19:6897295 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.5G>T (p.Arg2Leu) single nucleotide variant not provided [RCV000955546] Chr19:6887613 [GRCh38]
Chr19:6887624 [GRCh37]
Chr19:19p13.3		 benign
NM_001974.5(ADGRE1):c.2382-4C>T single nucleotide variant not provided [RCV000957852] Chr19:6937239 [GRCh38]
Chr19:6937250 [GRCh37]
Chr19:19p13.2		 benign
NM_001974.5(ADGRE1):c.2638C>A (p.Pro880Thr) single nucleotide variant not provided [RCV000957853] Chr19:6937631 [GRCh38]
Chr19:6937642 [GRCh37]
Chr19:19p13.2		 benign
NM_001974.5(ADGRE1):c.1864G>A (p.Ala622Thr) single nucleotide variant not specified [RCV004608812] Chr19:6924750 [GRCh38]
Chr19:6924761 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.392C>T (p.Thr131Ile) single nucleotide variant not specified [RCV004608801] Chr19:6897302 [GRCh38]
Chr19:6897313 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.517G>A (p.Val173Met) single nucleotide variant not specified [RCV004608782] Chr19:6901877 [GRCh38]
Chr19:6901888 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1399A>G (p.Ile467Val) single nucleotide variant not specified [RCV004608792] Chr19:6916347 [GRCh38]
Chr19:6916358 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1969C>T (p.His657Tyr) single nucleotide variant not specified [RCV004608823] Chr19:6924855 [GRCh38]
Chr19:6924866 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_6361586)_(8212364_?)del deletion Mucolipidosis type IV [RCV003109715] Chr19:6361586..8212364 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_001974.5(ADGRE1):c.1780G>A (p.Gly594Arg) single nucleotide variant not specified [RCV004608771] Chr19:6921872 [GRCh38]
Chr19:6921883 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.384C>A (p.Phe128Leu) single nucleotide variant not specified [RCV004311563] Chr19:6897294 [GRCh38]
Chr19:6897305 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.1313A>C (p.Lys438Thr) single nucleotide variant not specified [RCV004180944] Chr19:6916261 [GRCh38]
Chr19:6916272 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.2246G>T (p.Gly749Val) single nucleotide variant not specified [RCV004151112] Chr19:6928168 [GRCh38]
Chr19:6928179 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1359G>C (p.Leu453Phe) single nucleotide variant not specified [RCV004089940] Chr19:6916307 [GRCh38]
Chr19:6916318 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1921C>T (p.Leu641Phe) single nucleotide variant not specified [RCV004153317] Chr19:6924807 [GRCh38]
Chr19:6924818 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1963G>A (p.Gly655Ser) single nucleotide variant not specified [RCV004211870] Chr19:6924849 [GRCh38]
Chr19:6924860 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.415A>G (p.Ser139Gly) single nucleotide variant not specified [RCV004218524] Chr19:6897448 [GRCh38]
Chr19:6897459 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001974.5(ADGRE1):c.1108G>A (p.Val370Ile) single nucleotide variant not specified [RCV004212279] Chr19:6908758 [GRCh38]
Chr19:6908769 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.170C>T (p.Ala57Val) single nucleotide variant not specified [RCV004129250] Chr19:6896473 [GRCh38]
Chr19:6896484 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.1101A>C (p.Lys367Asn) single nucleotide variant not specified [RCV004097053] Chr19:6908751 [GRCh38]
Chr19:6908762 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1621C>G (p.Pro541Ala) single nucleotide variant not specified [RCV004238726] Chr19:6921713 [GRCh38]
Chr19:6921724 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.904C>A (p.Pro302Thr) single nucleotide variant not specified [RCV004136079] Chr19:6904137 [GRCh38]
Chr19:6904148 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.2267G>A (p.Gly756Glu) single nucleotide variant not specified [RCV004182732] Chr19:6928189 [GRCh38]
Chr19:6928200 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.2246G>C (p.Gly749Ala) single nucleotide variant not specified [RCV004072153] Chr19:6928168 [GRCh38]
Chr19:6928179 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1796A>C (p.Asp599Ala) single nucleotide variant not specified [RCV004165831] Chr19:6924682 [GRCh38]
Chr19:6924693 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.2212A>G (p.Met738Val) single nucleotide variant not specified [RCV004177236] Chr19:6926591 [GRCh38]
Chr19:6926602 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.474C>A (p.Ser158Arg) single nucleotide variant not specified [RCV004202231] Chr19:6897507 [GRCh38]
Chr19:6897518 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.2622C>G (p.Ile874Met) single nucleotide variant not specified [RCV004160449] Chr19:6937615 [GRCh38]
Chr19:6937626 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1831A>G (p.Ile611Val) single nucleotide variant not specified [RCV004178864] Chr19:6924717 [GRCh38]
Chr19:6924728 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.421G>A (p.Val141Ile) single nucleotide variant not specified [RCV004095381] Chr19:6897454 [GRCh38]
Chr19:6897465 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.1103C>T (p.Thr368Met) single nucleotide variant not specified [RCV004189100] Chr19:6908753 [GRCh38]
Chr19:6908764 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1700G>A (p.Cys567Tyr) single nucleotide variant not specified [RCV004154539] Chr19:6921792 [GRCh38]
Chr19:6921803 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.164A>G (p.Tyr55Cys) single nucleotide variant not specified [RCV004181995] Chr19:6896467 [GRCh38]
Chr19:6896478 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.467G>A (p.Ser156Asn) single nucleotide variant not specified [RCV004220569] Chr19:6897500 [GRCh38]
Chr19:6897511 [GRCh37]
Chr19:19p13.3		 likely benign
NM_001974.5(ADGRE1):c.1520T>A (p.Ile507Asn) single nucleotide variant not specified [RCV004179464] Chr19:6919647 [GRCh38]
Chr19:6919658 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.692T>A (p.Ile231Asn) single nucleotide variant not specified [RCV004125739] Chr19:6903840 [GRCh38]
Chr19:6903851 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1357T>G (p.Leu453Val) single nucleotide variant not specified [RCV004078183] Chr19:6916305 [GRCh38]
Chr19:6916316 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.533A>G (p.Asp178Gly) single nucleotide variant not specified [RCV004272816] Chr19:6901893 [GRCh38]
Chr19:6901904 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.798T>G (p.Cys266Trp) single nucleotide variant not specified [RCV004253326] Chr19:6903946 [GRCh38]
Chr19:6903957 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1550G>C (p.Gly517Ala) single nucleotide variant not specified [RCV004253924] Chr19:6919677 [GRCh38]
Chr19:6919688 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.961A>G (p.Lys321Glu) single nucleotide variant not specified [RCV004258750] Chr19:6906444 [GRCh38]
Chr19:6906455 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.2621T>C (p.Ile874Thr) single nucleotide variant not specified [RCV004248099] Chr19:6937614 [GRCh38]
Chr19:6937625 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1016G>A (p.Gly339Glu) single nucleotide variant not specified [RCV004297600] Chr19:6906499 [GRCh38]
Chr19:6906510 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1601A>G (p.Tyr534Cys) single nucleotide variant not specified [RCV004345843] Chr19:6919728 [GRCh38]
Chr19:6919739 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.979A>T (p.Ile327Leu) single nucleotide variant not specified [RCV004351754] Chr19:6906462 [GRCh38]
Chr19:6906473 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1166C>A (p.Thr389Lys) single nucleotide variant not specified [RCV004344940] Chr19:6913696 [GRCh38]
Chr19:6913707 [GRCh37]
Chr19:19p13.2		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_001974.5(ADGRE1):c.1464G>A (p.Ser488=) single nucleotide variant not provided [RCV003423268] Chr19:6919591 [GRCh38]
Chr19:6919602 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001974.5(ADGRE1):c.2289+47A>T single nucleotide variant not provided [RCV003457008] Chr19:6928258 [GRCh38]
Chr19:6928269 [GRCh37]
Chr19:19p13.2		 benign
NM_001974.5(ADGRE1):c.2006C>T (p.Ala669Val) single nucleotide variant ADGRE1-related disorder [RCV003922076] Chr19:6926385 [GRCh38]
Chr19:6926396 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001974.5(ADGRE1):c.975T>C (p.Asp325=) single nucleotide variant not provided [RCV003885855] Chr19:6906458 [GRCh38]
Chr19:6906469 [GRCh37]
Chr19:19p13.2		 benign
NM_001974.5(ADGRE1):c.1621-4_1621-3dup duplication ADGRE1-related disorder [RCV003947090] Chr19:6921702..6921703 [GRCh38]
Chr19:6921713..6921714 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001974.5(ADGRE1):c.1118T>A (p.Leu373Gln) single nucleotide variant not specified [RCV004379402] Chr19:6908768 [GRCh38]
Chr19:6908779 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1449T>G (p.Phe483Leu) single nucleotide variant not specified [RCV004379428] Chr19:6919576 [GRCh38]
Chr19:6919587 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.71C>T (p.Pro24Leu) single nucleotide variant not specified [RCV004381523] Chr19:6890520 [GRCh38]
Chr19:6890531 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.1775C>T (p.Ala592Val) single nucleotide variant not specified [RCV004381449] Chr19:6921867 [GRCh38]
Chr19:6921878 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1108G>T (p.Val370Leu) single nucleotide variant not specified [RCV004379397] Chr19:6908758 [GRCh38]
Chr19:6908769 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1859C>T (p.Ala620Val) single nucleotide variant not specified [RCV004381457] Chr19:6924745 [GRCh38]
Chr19:6924756 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.895G>A (p.Gly299Ser) single nucleotide variant not specified [RCV004381541] Chr19:6904128 [GRCh38]
Chr19:6904139 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.617G>T (p.Ser206Ile) single nucleotide variant not specified [RCV004381517] Chr19:6901977 [GRCh38]
Chr19:6901988 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.509G>C (p.Cys170Ser) single nucleotide variant not specified [RCV004381509] Chr19:6897542 [GRCh38]
Chr19:6897553 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.1196C>A (p.Ser399Tyr) single nucleotide variant not specified [RCV004379408] Chr19:6913726 [GRCh38]
Chr19:6913737 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1229A>C (p.Glu410Ala) single nucleotide variant not specified [RCV004379414] Chr19:6913759 [GRCh38]
Chr19:6913770 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1286G>A (p.Arg429Gln) single nucleotide variant not specified [RCV004379420] Chr19:6913816 [GRCh38]
Chr19:6913827 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001974.5(ADGRE1):c.1744A>C (p.Asn582His) single nucleotide variant not specified [RCV004381445] Chr19:6921836 [GRCh38]
Chr19:6921847 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.2512G>A (p.Ala838Thr) single nucleotide variant not specified [RCV004381478] Chr19:6937373 [GRCh38]
Chr19:6937384 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.2555G>A (p.Arg852Gln) single nucleotide variant not specified [RCV004381479] Chr19:6937548 [GRCh38]
Chr19:6937559 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.764G>A (p.Gly255Glu) single nucleotide variant not specified [RCV004381528] Chr19:6903912 [GRCh38]
Chr19:6903923 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.2284A>G (p.Ile762Val) single nucleotide variant not specified [RCV004381474] Chr19:6928206 [GRCh38]
Chr19:6928217 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.449A>C (p.Asn150Thr) single nucleotide variant not specified [RCV004381495] Chr19:6897482 [GRCh38]
Chr19:6897493 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001974.5(ADGRE1):c.854G>T (p.Cys285Phe) single nucleotide variant not specified [RCV004381535] Chr19:6904087 [GRCh38]
Chr19:6904098 [GRCh37]
Chr19:19p13.2		 uncertain significance
NC_000019.9:g.(?_5691310)_(8008536_?)dup duplication not provided [RCV004579685] Chr19:5691310..8008536 [GRCh37]
Chr19:19p13.3-13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1776G>A (p.Ala592=) single nucleotide variant not provided [RCV004722430] Chr19:6921868 [GRCh38]
Chr19:6921879 [GRCh37]
Chr19:19p13.2		 likely benign
NM_001974.5(ADGRE1):c.1739G>A (p.Ser580Asn) single nucleotide variant not specified [RCV004381442] Chr19:6921831 [GRCh38]
Chr19:6921842 [GRCh37]
Chr19:19p13.2		 uncertain significance
NM_001974.5(ADGRE1):c.1003C>A (p.Gln335Lys) single nucleotide variant not specified [RCV004379375] Chr19:6906486 [GRCh38]
Chr19:6906497 [GRCh37]
Chr19:19p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1601
Count of miRNA genes:560
Interacting mature miRNAs:616
Transcripts:ENST00000250572, ENST00000312053, ENST00000381404, ENST00000381407, ENST00000450315, ENST00000595026, ENST00000596944, ENST00000601198
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406902624GWAS551600_HCOVID-19 QTL GWAS551600 (human)0.000008COVID-191969203486920349Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
406902341GWAS551317_HCOVID-19 QTL GWAS551317 (human)0.0000006COVID-191969200866920087Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
406902862GWAS551838_HCOVID-19 QTL GWAS551838 (human)0.000005COVID-191969203486920349Human
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
407195318GWAS844294_Hgamma-glutamylthreonine measurement QTL GWAS844294 (human)0.000002gamma-glutamylthreonine measurement1969148176914818Human
406902355GWAS551331_HCOVID-19 QTL GWAS551331 (human)0.000003COVID-191969203486920349Human
407028022GWAS676998_Hperiodontitis QTL GWAS676998 (human)0.0000008periodontitis1968877256887726Human
406901174GWAS550150_HCOVID-19 QTL GWAS550150 (human)0.000002COVID-191969203486920349Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
407095421GWAS744397_Hbipolar II disorder QTL GWAS744397 (human)0.0000007bipolar II disorder1969088846908885Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human
407152763GWAS801739_Hbody mass index QTL GWAS801739 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)1969144336914434Human

Markers in Region
G09953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,896,609 - 6,896,901UniSTSGRCh37
GRCh37196,896,609 - 6,898,067UniSTSGRCh37
Build 36196,847,609 - 6,847,901RGDNCBI36
Celera196,838,833 - 6,839,125RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,658,983 - 6,659,275UniSTS
HuRef196,658,983 - 6,660,437UniSTS
STS-X81479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,940,065 - 6,940,320UniSTSGRCh37
Build 36196,891,065 - 6,891,320RGDNCBI36
Celera196,881,136 - 6,881,391RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,702,642 - 6,702,897UniSTS
GeneMap99-GB4 RH Map1941.59UniSTS
SHGC-35395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,940,123 - 6,940,325UniSTSGRCh37
Build 36196,891,123 - 6,891,325RGDNCBI36
Celera196,881,194 - 6,881,396RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,702,700 - 6,702,902UniSTS
GeneMap99-GB4 RH Map1941.59UniSTS
Whitehead-RH Map1927.7UniSTS
NCBI RH Map1910.0UniSTS
GeneMap99-G3 RH Map19235.0UniSTS
A004C29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,940,239 - 6,940,432UniSTSGRCh37
Build 36196,891,239 - 6,891,432RGDNCBI36
Celera196,881,310 - 6,881,503RGD
Cytogenetic Map19p13.3UniSTS
HuRef196,702,816 - 6,703,009UniSTS
GeneMap99-GB4 RH Map1940.45UniSTS
NCBI RH Map194.7UniSTS


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
1181 2147 2358 2054 3948 1646 2147 6 602 1897 447 1733 6656 6120 40 3216 1 798 1587 1438 160 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB065918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC059395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS173019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA465986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ217942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000250572   ⟹   ENSP00000250572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,887,566 - 6,940,459 (+)Ensembl
Ensembl Acc Id: ENST00000312053   ⟹   ENSP00000311545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,887,579 - 6,940,450 (+)Ensembl
Ensembl Acc Id: ENST00000381404   ⟹   ENSP00000370811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,887,579 - 6,940,451 (+)Ensembl
Ensembl Acc Id: ENST00000381407   ⟹   ENSP00000370814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,887,571 - 6,940,440 (+)Ensembl
Ensembl Acc Id: ENST00000450315   ⟹   ENSP00000405974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,887,577 - 6,940,434 (+)Ensembl
Ensembl Acc Id: ENST00000595026   ⟹   ENSP00000472553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,896,406 - 6,913,735 (+)Ensembl
Ensembl Acc Id: ENST00000596944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,896,379 - 6,897,925 (+)Ensembl
Ensembl Acc Id: ENST00000601198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,891,150 - 6,901,955 (+)Ensembl
RefSeq Acc Id: NM_001256252   ⟹   NP_001243181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,887,579 - 6,940,450 (+)NCBI
GRCh37196,887,560 - 6,940,464 (+)NCBI
HuRef196,649,934 - 6,703,041 (+)NCBI
CHM1_1196,887,377 - 6,940,296 (+)NCBI
T2T-CHM13v2.0196,876,897 - 6,929,770 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256253   ⟹   NP_001243182
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,887,579 - 6,940,450 (+)NCBI
GRCh37196,887,560 - 6,940,464 (+)NCBI
HuRef196,649,934 - 6,703,041 (+)NCBI
CHM1_1196,887,377 - 6,940,296 (+)NCBI
T2T-CHM13v2.0196,876,897 - 6,929,770 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256254   ⟹   NP_001243183
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,887,579 - 6,940,450 (+)NCBI
GRCh37196,887,560 - 6,940,464 (+)NCBI
HuRef196,649,934 - 6,703,041 (+)NCBI
CHM1_1196,887,377 - 6,940,296 (+)NCBI
T2T-CHM13v2.0196,876,897 - 6,929,770 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256255   ⟹   NP_001243184
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,887,579 - 6,940,450 (+)NCBI
GRCh37196,887,560 - 6,940,464 (+)NCBI
HuRef196,649,934 - 6,703,041 (+)NCBI
CHM1_1196,887,377 - 6,940,296 (+)NCBI
T2T-CHM13v2.0196,876,897 - 6,929,770 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001974   ⟹   NP_001965
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,887,579 - 6,940,450 (+)NCBI
GRCh37196,887,560 - 6,940,464 (+)NCBI
Build 36196,838,582 - 6,891,464 (+)NCBI Archive
Celera196,829,806 - 6,881,535 (+)RGD
HuRef196,649,934 - 6,703,041 (+)NCBI
CHM1_1196,887,377 - 6,940,296 (+)NCBI
T2T-CHM13v2.0196,876,897 - 6,929,770 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527794   ⟹   XP_011526096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,887,579 - 6,940,450 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054320175   ⟹   XP_054176150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0196,876,897 - 6,929,770 (+)NCBI
RefSeq Acc Id: NP_001965   ⟸   NM_001974
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6ZMN0 (UniProtKB/Swiss-Prot),   Q2I7G5 (UniProtKB/Swiss-Prot),   H9KV79 (UniProtKB/Swiss-Prot),   E9PD45 (UniProtKB/Swiss-Prot),   E7EPX9 (UniProtKB/Swiss-Prot),   B7Z489 (UniProtKB/Swiss-Prot),   B7Z486 (UniProtKB/Swiss-Prot),   A6NHV2 (UniProtKB/Swiss-Prot),   Q8NGA7 (UniProtKB/Swiss-Prot),   Q14246 (UniProtKB/Swiss-Prot),   B2R8T0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243182   ⟸   NM_001256253
- Peptide Label: isoform 3 precursor
- UniProtKB: A8K653 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243184   ⟸   NM_001256255
- Peptide Label: isoform 5 precursor
- UniProtKB: B2R8T0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243181   ⟸   NM_001256252
- Peptide Label: isoform 2 precursor
- UniProtKB: A8K2Y6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243183   ⟸   NM_001256254
- Peptide Label: isoform 4 precursor
- UniProtKB: B2R8T0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526096   ⟸   XM_011527794
- Peptide Label: isoform X1
- UniProtKB: B2R8T0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000472553   ⟸   ENST00000595026
Ensembl Acc Id: ENSP00000405974   ⟸   ENST00000450315
Ensembl Acc Id: ENSP00000311545   ⟸   ENST00000312053
Ensembl Acc Id: ENSP00000370814   ⟸   ENST00000381407
Ensembl Acc Id: ENSP00000370811   ⟸   ENST00000381404
Ensembl Acc Id: ENSP00000250572   ⟸   ENST00000250572
RefSeq Acc Id: XP_054176150   ⟸   XM_054320175
- Peptide Label: isoform X1
Protein Domains
EGF-like   G-protein coupled receptors family 2 profile   GAIN-B

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14246-F1-model_v2 AlphaFold Q14246 1-886 view protein structure

Promoters
RGD ID:7238253
Promoter ID:EPDNEW_H24871
Type:initiation region
Name:ADGRE1_1
Description:adhesion G protein-coupled receptor E1
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
GRCh38196,887,579 - 6,887,639EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3336 AgrOrtholog
COSMIC ADGRE1 COSMIC
Ensembl Genes ENSG00000174837 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000250572 ENTREZGENE
  ENST00000250572.12 UniProtKB/Swiss-Prot
  ENST00000312053 ENTREZGENE
  ENST00000312053.9 UniProtKB/Swiss-Prot
  ENST00000381404 ENTREZGENE
  ENST00000381404.8 UniProtKB/Swiss-Prot
  ENST00000381407 ENTREZGENE
  ENST00000381407.9 UniProtKB/Swiss-Prot
  ENST00000450315 ENTREZGENE
  ENST00000450315.7 UniProtKB/Swiss-Prot
  ENST00000595026.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.220.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174837 GTEx
HGNC ID HGNC:3336 ENTREZGENE
Human Proteome Map ADGRE1 Human Proteome Map
InterPro EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GAIN_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_EMR1-like_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_secretin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_secretin-like_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOTCH1_EGF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2015 UniProtKB/Swiss-Prot
NCBI Gene 2015 ENTREZGENE
OMIM 600493 OMIM
PANTHER ADHESION G PROTEIN-COUPLED RECEPTOR E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADHESION G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBN-1A.1 UniProtKB/TrEMBL
  FIBRILLIN-RELATED UniProtKB/TrEMBL
Pfam 7tm_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27773 PharmGKB
PRINTS EMR1HORMONER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCRSECRETIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NHV2 ENTREZGENE
  A8K2Y6 ENTREZGENE, UniProtKB/TrEMBL
  A8K653 ENTREZGENE, UniProtKB/TrEMBL
  AGRE1_HUMAN UniProtKB/Swiss-Prot
  B2R8T0 ENTREZGENE, UniProtKB/TrEMBL
  B7Z486 ENTREZGENE
  B7Z489 ENTREZGENE
  E7EPX9 ENTREZGENE
  E9PD45 ENTREZGENE
  H9KV79 ENTREZGENE
  M0R2G7_HUMAN UniProtKB/TrEMBL
  Q14246 ENTREZGENE
  Q2I7G5 ENTREZGENE
  Q6ZMN0 ENTREZGENE
  Q8NGA7 ENTREZGENE
UniProt Secondary A6NHV2 UniProtKB/Swiss-Prot
  B7Z486 UniProtKB/Swiss-Prot
  B7Z489 UniProtKB/Swiss-Prot
  E7EPX9 UniProtKB/Swiss-Prot
  E9PD45 UniProtKB/Swiss-Prot
  H9KV79 UniProtKB/Swiss-Prot
  Q2I7G5 UniProtKB/Swiss-Prot
  Q6ZMN0 UniProtKB/Swiss-Prot
  Q8NGA7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-03-10 ADGRE1  adhesion G protein-coupled receptor E1  EMR1  egf-like module containing, mucin-like, hormone receptor-like 1  Symbol and/or name change 5135510 APPROVED