ADGRB1 (adhesion G protein-coupled receptor B1) - Rat Genome Database

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Gene: ADGRB1 (adhesion G protein-coupled receptor B1) Homo sapiens
Analyze
Symbol: ADGRB1
Name: adhesion G protein-coupled receptor B1
RGD ID: 1313737
HGNC Page HGNC
Description: Exhibits G protein-coupled receptor activity. Involved in several processes, including engulfment of apoptotic cell; negative regulation of endothelial cell migration; and positive regulation of reactive oxygen species biosynthetic process. Localizes to extracellular space; perinuclear region of cytoplasm; and plasma membrane. Implicated in glioblastoma. Biomarker of carcinoma (multiple); gastrointestinal system cancer (multiple); invasive ductal carcinoma; and malignant astrocytoma (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BAI1; brain-specific angiogenesis inhibitor 1; FLJ41988; GDAIF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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 Ensembl8142,449,430 - 142,545,009 (+)EnsemblGRCh38hg38GRCh38
GRCh388142,449,649 - 142,545,009 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,531,010 - 143,626,368 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,542,379 - 143,623,370 (+)NCBINCBI36hg18NCBI36
Build 348143,542,378 - 143,623,369NCBI
Celera8139,855,778 - 139,937,685 (+)NCBI
Cytogenetic Map8q24.3ENTREZGENE
HuRef8138,802,096 - 138,882,338 (+)NCBIHuRef
CHM1_18143,585,613 - 143,666,276 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7531056   PMID:9393972   PMID:9533023   PMID:9647739   PMID:9790924   PMID:10343108   PMID:10748157   PMID:11245925   PMID:11937501   PMID:12074842   PMID:12543931   PMID:14702039  
PMID:14980512   PMID:15203201   PMID:15782143   PMID:17960134   PMID:19176395   PMID:19615732   PMID:21724586   PMID:21873635   PMID:21930703   PMID:22330140   PMID:23190742   PMID:23595754  
PMID:23782696   PMID:24509909   PMID:25640309   PMID:25713288   PMID:25798074   PMID:26129954   PMID:26710850   PMID:26838550   PMID:27852701   PMID:28298427   PMID:29676528   PMID:29894688  
PMID:31582835   PMID:32614850  


Genomics

Comparative Map Data
ADGRB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8142,449,430 - 142,545,009 (+)EnsemblGRCh38hg38GRCh38
GRCh388142,449,649 - 142,545,009 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378143,531,010 - 143,626,368 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368143,542,379 - 143,623,370 (+)NCBINCBI36hg18NCBI36
Build 348143,542,378 - 143,623,369NCBI
Celera8139,855,778 - 139,937,685 (+)NCBI
Cytogenetic Map8q24.3ENTREZGENE
HuRef8138,802,096 - 138,882,338 (+)NCBIHuRef
CHM1_18143,585,613 - 143,666,276 (+)NCBICHM1_1
Adgrb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391574,388,045 - 74,461,314 (+)NCBIGRCm39mm39
GRCm39 Ensembl1574,388,044 - 74,461,314 (+)Ensembl
GRCm381574,516,196 - 74,589,465 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1574,516,195 - 74,589,465 (+)EnsemblGRCm38mm10GRCm38
MGSCv371574,346,626 - 74,419,894 (+)NCBIGRCm37mm9NCBIm37
MGSCv361574,343,939 - 74,416,478 (+)NCBImm8
Celera1576,016,847 - 76,094,001 (+)NCBICelera
Cytogenetic Map15D3NCBI
Adgrb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27106,404,844 - 106,476,902 (+)NCBI
Rnor_6.07115,766,484 - 115,828,514 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07115,675,214 - 115,734,250 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47112,622,235 - 112,682,897 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17112,656,235 - 112,717,613 (+)NCBI
Celera7102,819,252 - 102,878,228 (+)NCBICelera
Cytogenetic Map7q34NCBI
Adgrb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554541,237,363 - 1,314,127 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554541,250,261 - 1,313,547 (+)NCBIChiLan1.0ChiLan1.0
ADGRB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18142,221,371 - 142,277,665 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8142,220,827 - 142,301,070 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08139,154,065 - 139,251,115 (+)NCBIMhudiblu_PPA_v0panPan3
ADGRB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11336,627,791 - 36,649,013 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1336,614,498 - 36,690,936 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1336,495,752 - 36,557,393 (+)NCBI
ROS_Cfam_1.01337,023,275 - 37,084,917 (+)NCBI
UMICH_Zoey_3.11336,742,111 - 36,803,620 (+)NCBI
UNSW_CanFamBas_1.01336,831,945 - 36,893,408 (+)NCBI
UU_Cfam_GSD_1.01337,253,730 - 37,315,304 (+)NCBI
LOC101964702
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,864,971 - 1,887,131 (-)NCBI
SpeTri2.0NW_0049364709,247,749 - 9,313,230 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADGRB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,582,324 - 1,659,163 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,582,321 - 1,658,639 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103237529
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18136,704,318 - 136,784,581 (+)NCBI
ChlSab1.1 Ensembl8136,704,341 - 136,783,991 (+)Ensembl
Adgrb1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473514,049,621 - 14,126,287 (-)NCBI

Position Markers
GDB:314333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378143,625,028 - 143,625,242UniSTSGRCh37
Build 368143,622,030 - 143,622,244RGDNCBI36
Celera8139,936,345 - 139,936,559RGD
Cytogenetic Map8q24.3UniSTS
HuRef8138,880,998 - 138,881,212UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2384
Count of miRNA genes:746
Interacting mature miRNAs:865
Transcripts:ENST00000323289, ENST00000517894, ENST00000518812, ENST00000518820, ENST00000521208
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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 5 1 221 4 36 4 322 7 2652 8 62 38 120
Low 2166 1649 1042 214 965 57 2694 949 1028 166 1251 1371 160 934 1613 1
Below cutoff 226 1333 408 360 845 357 1322 1215 22 191 113 149 12 1 270 1049 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001391985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB005297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000323289   ⟹   ENSP00000313046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,464,016 - 142,545,006 (+)Ensembl
RefSeq Acc Id: ENST00000517894   ⟹   ENSP00000430945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,449,430 - 142,545,009 (+)Ensembl
RefSeq Acc Id: ENST00000518812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,543,501 - 142,544,684 (+)Ensembl
RefSeq Acc Id: ENST00000518820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,479,120 - 142,540,020 (+)Ensembl
RefSeq Acc Id: ENST00000521208   ⟹   ENSP00000427783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,449,679 - 142,545,006 (+)Ensembl
RefSeq Acc Id: ENST00000643448   ⟹   ENSP00000494563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8142,449,430 - 142,545,009 (+)Ensembl
RefSeq Acc Id: NM_001391985   ⟹   NP_001378914
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,649 - 142,545,007 (+)NCBI
RefSeq Acc Id: NM_001391986   ⟹   NP_001378915
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,649 - 142,545,007 (+)NCBI
RefSeq Acc Id: NM_001391987   ⟹   NP_001378916
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,509,926 - 142,545,007 (+)NCBI
RefSeq Acc Id: NM_001391988   ⟹   NP_001378917
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,510,698 - 142,545,007 (+)NCBI
RefSeq Acc Id: NM_001702   ⟹   NP_001693
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,649 - 142,545,007 (+)NCBI
GRCh378143,545,377 - 143,626,369 (+)NCBI
Build 368143,542,379 - 143,623,370 (+)NCBI Archive
HuRef8138,802,096 - 138,882,338 (+)ENTREZGENE
CHM1_18143,585,613 - 143,666,276 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517202   ⟹   XP_011515504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,703 - 142,537,078 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013691   ⟹   XP_016869180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,703 - 142,545,009 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013692   ⟹   XP_016869181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,703 - 142,545,009 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013693   ⟹   XP_016869182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,703 - 142,545,009 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013694   ⟹   XP_016869183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,703 - 142,545,009 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013695   ⟹   XP_016869184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,703 - 142,545,009 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013696   ⟹   XP_016869185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,703 - 142,545,009 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013697   ⟹   XP_016869186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388142,449,703 - 142,545,009 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001693   ⟸   NM_001702
- Peptide Label: isoform 1 precursor
- UniProtKB: O14514 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515504   ⟸   XM_011517202
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016869184   ⟸   XM_017013695
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016869180   ⟸   XM_017013691
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869181   ⟸   XM_017013692
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016869185   ⟸   XM_017013696
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016869183   ⟸   XM_017013694
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869182   ⟸   XM_017013693
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016869186   ⟸   XM_017013697
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000430945   ⟸   ENST00000517894
RefSeq Acc Id: ENSP00000313046   ⟸   ENST00000323289
RefSeq Acc Id: ENSP00000427783   ⟸   ENST00000521208
RefSeq Acc Id: ENSP00000494563   ⟸   ENST00000643448
RefSeq Acc Id: NP_001378915   ⟸   NM_001391986
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: NP_001378914   ⟸   NM_001391985
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001378916   ⟸   NM_001391987
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001378917   ⟸   NM_001391988
- Peptide Label: isoform 5

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201425-142550407)x1 copy number loss See cases [RCV000050764] Chr8:142201425..142550407 [GRCh38]
Chr8:143282786..143631768 [GRCh37]
Chr8:143280693..143628770 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_001702.2(ADGRB1):c.1816C>T (p.Arg606Cys) single nucleotide variant Malignant melanoma [RCV000068187] Chr8:142479782 [GRCh38]
Chr8:143561143 [GRCh37]
Chr8:143558145 [NCBI36]
Chr8:8q24.3
not provided
NM_001702.2(ADGRB1):c.2308+1709C>A single nucleotide variant Lung cancer [RCV000107215] Chr8:142486473 [GRCh38]
Chr8:143567834 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143118307-143568462)x1 copy number loss See cases [RCV000446560] Chr8:143118307..143568462 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142446260-143549805)x3 copy number gain not provided [RCV000683005] Chr8:142446260..143549805 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143514434-143721935)x3 copy number gain not provided [RCV000747916] Chr8:143514434..143721935 [GRCh37]
Chr8:8q24.3
benign
NM_001702.3(ADGRB1):c.3822C>A (p.Thr1274=) single nucleotide variant not provided [RCV000892919] Chr8:142542056 [GRCh38]
Chr8:143623417 [GRCh37]
Chr8:8q24.3
benign
NM_001702.3(ADGRB1):c.4329G>A (p.Gly1443=) single nucleotide variant not provided [RCV000938683] Chr8:142542563 [GRCh38]
Chr8:143623924 [GRCh37]
Chr8:8q24.3
likely benign
NM_001702.3(ADGRB1):c.1440C>T (p.Ser480=) single nucleotide variant not provided [RCV000882710] Chr8:142478239 [GRCh38]
Chr8:143559600 [GRCh37]
Chr8:8q24.3
benign
NM_001702.3(ADGRB1):c.4332G>A (p.Glu1444=) single nucleotide variant not provided [RCV000906083] Chr8:142542566 [GRCh38]
Chr8:143623927 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 copy number gain not provided [RCV000846118] Chr8:142988974..144218537 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001702.3(ADGRB1):c.4520C>T (p.Ala1507Val) single nucleotide variant not provided [RCV000967109] Chr8:142543671 [GRCh38]
Chr8:143625032 [GRCh37]
Chr8:8q24.3
benign
NM_001702.3(ADGRB1):c.3885C>T (p.Pro1295=) single nucleotide variant not provided [RCV000900378] Chr8:142542119 [GRCh38]
Chr8:143623480 [GRCh37]
Chr8:8q24.3
benign
NM_001702.3(ADGRB1):c.4179G>C (p.Pro1393=) single nucleotide variant not provided [RCV000952935] Chr8:142542413 [GRCh38]
Chr8:143623774 [GRCh37]
Chr8:8q24.3
likely benign
NM_001702.3(ADGRB1):c.1725C>T (p.Pro575=) single nucleotide variant not provided [RCV000892597] Chr8:142479486 [GRCh38]
Chr8:143560847 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_001702.3(ADGRB1):c.2696dup (p.Gln900fs) duplication not provided [RCV001249378] Chr8:142510945..142510946 [GRCh38]
Chr8:143592306..143592307 [GRCh37]
Chr8:8q24.3
not provided
GRCh37/hg19 8q24.3(chr8:143570920-144459613)x1 copy number loss not provided [RCV001006151] Chr8:143570920..144459613 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:943 AgrOrtholog
COSMIC ADGRB1 COSMIC
Ensembl Genes ENSG00000181790 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000313046 UniProtKB/Swiss-Prot
  ENSP00000427783 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000430945 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494563 UniProtKB/TrEMBL
Ensembl Transcript ENST00000323289 UniProtKB/Swiss-Prot
  ENST00000517894 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000521208 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000643448 UniProtKB/TrEMBL
Gene3D-CATH 2.20.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.1240.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000181790 GTEx
HGNC ID HGNC:943 ENTREZGENE
Human Proteome Map ADGRB1 Human Proteome Map
InterPro AGRB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GAIN_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_brain_angio_inhib UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_extracell_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_extracellular_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_secretin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1_rpt_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:575 UniProtKB/Swiss-Prot
NCBI Gene 575 ENTREZGENE
OMIM 602682 OMIM
Pfam 7tm_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AGRB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25247 PharmGKB
PRINTS BAIPRECURSOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCRSECRETIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F2_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HormR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF82895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y5M7_HUMAN UniProtKB/TrEMBL
  AGRB1_HUMAN UniProtKB/Swiss-Prot
  E5RG74_HUMAN UniProtKB/TrEMBL
  O14514 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-03-10 ADGRB1  adhesion G protein-coupled receptor B1  BAI1  brain-specific angiogenesis inhibitor 1  Symbol and/or name change 5135510 APPROVED
2012-03-13 BAI1  brain-specific angiogenesis inhibitor 1  BAI1  brain-specific angiogenesis inhibitor 1  Symbol and/or name change 5135510 APPROVED