Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 139411
MIM: 300828
HGNC: 26392
Ensembl: ENSG00000165186
Variants:
dbSNP: 139411
ClinVar: 139411
TCGA: ENSG00000165186
COSMIC: PTCHD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165186 | ENST00000379361 | Q96NR3 |
| ENSG00000165186 | ENST00000379361 | X5DNX9 |
| ENSG00000165186 | ENST00000456522 | H7C2M0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38007613 | 2024 | CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction. | 0 |
| 38275824 | 2024 | Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability. | 1 |
| 38007613 | 2024 | CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction. | 0 |
| 38275824 | 2024 | Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability. | 1 |
| 33856728 | 2021 | Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. | 6 |
| 33856728 | 2021 | Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. | 6 |
| 31540669 | 2020 | Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS. | 41 |
| 31540669 | 2020 | Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS. | 41 |
| 25131214 | 2015 | Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. | 37 |
| 25782667 | 2015 | Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. | 20 |
| 25131214 | 2015 | Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. | 37 |
| 25782667 | 2015 | Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. | 20 |
| 21091464 | 2011 | Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. | 25 |
| 21091464 | 2011 | Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism. | 25 |
| 20531469 | 2010 | Functional impact of global rare copy number variation in autism spectrum disorders. | 980 |
Citation
Dessen P
PTCHD1 (patched domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72368/ptchd1-(patched-domain-containing-1)
