IFT27 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- IFT27 (HGNC:18626) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- intraflagellar transport 27
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- RABL4
- Alias symbols
- RAYL, BBS19, FAP156, CFAP156
- %HI
- 55.96(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.08(Read more about gnomAD LOEUF score)
- Cytoband
- 22q12.3
- Genomic Coordinates
-
GRCh37/hg19: chr22:37154255-37172163 NCBI Ensembl UCSC GRCh38/hg38: chr22:36758211-36776119 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001177701.3 ENST00000433985.7 (Read more about MANE Select)
- Function
- Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Ess... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6331
ClinGen Curation ID:
CCID:007313
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:
- Bardet-Biedl syndrome 19 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)