PTCHD1 (patched domain containing 1)

2014-11-01  

Identity

HGNC
PTCHD1
LOCATION
Xp22.11
LOCUSID
139411
ALIAS
AUTSX4

Other Information

Locus ID:

NCBI: 139411
MIM: 300828
HGNC: 26392
Ensembl: ENSG00000165186

Variants:

dbSNP: 139411
ClinVar: 139411
TCGA: ENSG00000165186
COSMIC: PTCHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165186ENST00000379361Q96NR3
ENSG00000165186ENST00000379361X5DNX9
ENSG00000165186ENST00000456522H7C2M0

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
205314692010Functional impact of global rare copy number variation in autism spectrum disorders.778
208442862010Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.78
210914642011Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.17
251312142015Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.17
257826672015Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.8

Citation

Dessen P

PTCHD1 (patched domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72368/ptchd1