• 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)