TACSTD2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TACSTD2 (HGNC:11530) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- tumor associated calcium signal transducer 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- M1S1
- Alias symbols
- TROP2, GA733-1, EGP-1
- %HI
- 66.49(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.53(Read more about gnomAD LOEUF score)
- Cytoband
- 1p32.1
- Genomic Coordinates
-
GRCh37/hg19: chr1:59041105-59042924 NCBI Ensembl UCSC GRCh38/hg38: chr1:58575433-58577252 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002353.3 ENST00000371225.4 (Read more about MANE Select)
- Function
- May function as a growth factor receptor. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-11202
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:
- gelatinous drop-like corneal dystrophy Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)