TSPEAR |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TSPEAR (HGNC:1268) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- thrombospondin type laminin G domain and EAR repeats
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C21orf29, DFNB98
- Alias symbols
- MGC11251, TSP-EAR
- %HI
- 67.21(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.2(Read more about gnomAD LOEUF score)
- Cytoband
- 21q22.3
- Genomic Coordinates
-
GRCh37/hg19: chr21:45917776-46131487 NCBI Ensembl UCSC GRCh38/hg38: chr21:44497893-44711572 NCBI Ensembl UCSC - MANE Select Transcript
- NM_144991.3 ENST00000323084.9 (Read more about MANE Select)
- Function
- Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063). {ECO:0000269|PubMed:22678063, ECO:0000269|PubMed:27736875}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-11697
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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 98 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000021.8)
(NC_000021.9)