IFT140
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
IFT140 (HGNC:29077) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
intraflagellar transport 140
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
WDTC2
Alias symbols
gs114, KIAA0590
%HI
69.24(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.97(Read more about gnomAD LOEUF score)
Cytoband
16p13.3
Genomic Coordinates
GRCh37/hg19: chr16:1560428-1662073 NCBI Ensembl UCSC
GRCh38/hg38: chr16:1510427-1612072 NCBI Ensembl UCSC
MANE Select Transcript
NM_014714.4 ENST00000426508.7 (Read more about MANE Select)
Function
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein- coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22503633). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin t... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31914
ClinGen Curation ID:
CCID:007312
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:
  • short-rib thoracic dysplasia 9 with or without polydactyly Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

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