PTPRQ |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PTPRQ (HGNC:9679) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- protein tyrosine phosphatase receptor type Q
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNB84
- Alias symbols
- No aliases found
- %HI
- 43.92(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.7(Read more about gnomAD LOEUF score)
- Cytoband
- 12q21.31
- Genomic Coordinates
-
GRCh37/hg19: chr12:80838015-81074052 NCBI Ensembl UCSC GRCh38/hg38: chr12:80444235-80680273 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001145026.2 ENST00000644991.3 (Read more about MANE Select)
- Function
- Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5- bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; h... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30944
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- autosomal recessive nonsyndromic hearing loss 84A Monarch
HI Evidence Comments:
Variants in PTPRQ have been reported in association with autosomal recessive nonsyndromic hearing loss (ARNSHL). Furthermore, the overall evidence that PTPRQ, when altered, causes ARNSHL has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)