IFT43
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
IFT43 (HGNC:29669) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
intraflagellar transport 43
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C14orf179
Alias symbols
FLJ32173, MGC16028
%HI
67.39(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.28(Read more about gnomAD LOEUF score)
Cytoband
14q24.3
Genomic Coordinates
GRCh37/hg19: chr14:76452106-76550416 NCBI Ensembl UCSC
GRCh38/hg38: chr14:75985763-76084073 NCBI Ensembl UCSC
MANE Select Transcript
NM_001102564.3 ENST00000314067.11 (Read more about MANE Select)
Function
As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380). {ECO:0000269|PubMed:21378380, ECO:0000269|PubMed:28400947, ECO:0000269|PubMed:28973684}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11108
ClinGen Curation ID:
CCID:007314
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
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 Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)