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)
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:
- cranioectodermal dysplasia 3 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)