• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LITAF (HGNC:16841) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lipopolysaccharide induced TNF factor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PIG7, SIMPLE, FLJ38636, TP53I7
%HI
51.7(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.03(Read more about gnomAD pLI score)
LOEUF
1.28(Read more about gnomAD LOEUF score)
Cytoband
16p13.13
Genomic Coordinates
GRCh37/hg19: chr16:11641578-11681322 NCBI Ensembl UCSC
GRCh38/hg38: chr16:11547722-11640317 NCBI Ensembl UCSC
MANE Select Transcript
NM_001136472.2 ENST00000622633.5 (Read more about MANE Select)
Function
Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation (PubMed:23166352). Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps down-regulate downstream signaling cascades (PubMed:23166352). Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes (PubMed:23166352). Probably plays a role in regulating protein degradation via its interaction with NEDD4 (PubMed:15776429). May also... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35871
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/21/2016

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
LITAF is associated with CMT type 1C, although pathogenicity is thought to be caused by missense variants, resulting in abnormal localization of the protein (PMID 21896645), and not related to loss of function. Focal deletions of this gene have not been reported, although there is a single case in DECIPHER (288371) that has a focal deletion, of unknown inheritance, classified as possibly pathogenic (and an additional likely benign variant) in a patient with a "learning disability." The Database of Genomic Variants also has both partial and whole gene deletions reported. Because of the lack of probands with a defined clinical phenotype, no case-control series, and no secondary evidence to support dosage sensitivity, further evidence is needed to assess the significance of focal deletions of LITAF.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Duplications of LITAF have not been reported, and the Database of Genomic Variants has a few observed duplications of the entire gene. Because of the lack of observations, further evidence is required to understand the significance of focal duplications of LITAF.

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)