TGM1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TGM1 (HGNC:11777) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- transglutaminase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ICR2
- Alias symbols
- TGASE, TGK, LI, LI1
- %HI
- 48.02(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.85(Read more about gnomAD LOEUF score)
- Cytoband
- 14q12
- Genomic Coordinates
-
GRCh37/hg19: chr14:24718320-24732383 NCBI Ensembl UCSC GRCh38/hg38: chr14:24249114-24263177 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000359.3 ENST00000206765.11 (Read more about MANE Select)
- Function
- Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141). {ECO:0000269|PubMed:26220141}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-25264
ClinGen Curation ID:
CCID:008002
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 congenital ichthyosis 1 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)