PTCHD1 Back

patched domain containing 1

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NCBI Description of PTCHD1

This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

Community Annotation of PTCHD1 Add / Edit PTCHD1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PTCHD1 is highly significantly mutated in
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PTCHD1 is significantly mutated in
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PTCHD1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for PTCHD1