TGM5 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TGM5 (HGNC:11781) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- transglutaminase 5
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- TGX, TGMX
- %HI
- 58.03(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.04(Read more about gnomAD LOEUF score)
- Cytoband
- 15q15.2
- Genomic Coordinates
-
GRCh37/hg19: chr15:43524788-43559126 NCBI Ensembl UCSC GRCh38/hg38: chr15:43232590-43266928 NCBI Ensembl UCSC - MANE Select Transcript
- NM_201631.4 ENST00000220420.10 (Read more about MANE Select)
- Function
- Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28052
ClinGen Curation ID:
CCID:008003
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:
- acral peeling skin syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)