| Variant ID | 22301 |
|---|---|
| Entrez Gene ID | 139378 |
| Gene | ADGRG4 (GeneCards) |
| Location | hg19 X:135555680-135555680
hg38 X:136473521-136473521 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.135555680 A>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.015221 (Deleterious) |
| FATHMM raw prediction score | 0.11497 (Tolerated) |
| Deleterious probability by DeFine | 0.3609 (Neutral) |
| Entrez Gene ID | 139378 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ADGRG4 (GeneCards) |
| Number of variants in ADGRG4 in this database | 2 (view all the variants) |
| Full name | adhesion G protein-coupled receptor G4 |
| Band | Xq26.3 |
| Other IDs | Vega: OTTHUMG00000022508 HGNC: HGNC:18992 Ensembl: ENSG00000156920 |
| Other names | PGR17, GPR112, RP1-299I16 |
| Summary | This gene encodes a G-protein coupled receptor belonging to a large family of diverse integral membrane proteins that participate in various physiological functions. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The ligand for this family member is unknown, and it is therefore an orphan receptor. This receptor is known to be expressed in normal enterochromaffin cells and in gastrointestinal neuroendocrine carcinoma cells, and it is therefore considered to be a novel biomarker or target for immunotherapy. [provided by RefSeq, May 2010] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |