• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FADD (HGNC:3573) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Fas associated via death domain
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
MORT1, GIG3
%HI
68.73(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.53(Read more about gnomAD pLI score)
LOEUF
1.28(Read more about gnomAD LOEUF score)
Cytoband
11q13.3
Genomic Coordinates
GRCh37/hg19: chr11:70049402-70053496 NCBI Ensembl UCSC
GRCh38/hg38: chr11:70203296-70207390 NCBI Ensembl UCSC
MANE Select Transcript
NM_003824.4 ENST00000301838.5 (Read more about MANE Select)
Function
Apoptotic adaptor molecule that recruits caspase-8 or caspase-10 to the activated Fas (CD95) or TNFR-1 receptors (PubMed:7538907, PubMed:23955153, PubMed:19118384, PubMed:20935634, PubMed:16762833, PubMed:24025841). The resulting aggregate called the death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation (PubMed:7538907, PubMed:19118384, PubMed:20935634, PubMed:16762833). Active caspase-8 initiates the subsequent cascade of caspases mediating apoptosis (PubMed:16762833... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26193
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:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)