DYNC2I1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DYNC2I1 (HGNC:21862) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- dynein 2 intermediate chain 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- WDR60
- Alias symbols
- FLJ10300, FAP163, CFAP163, DIC6
- %HI
- 89.69(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.8(Read more about gnomAD LOEUF score)
- Cytoband
- 7q36.3
- Genomic Coordinates
-
GRCh37/hg19: chr7:158631936-158738880 NCBI Ensembl UCSC GRCh38/hg38: chr7:158839245-158958698 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018051.5 ENST00000407559.8 (Read more about MANE Select)
- Function
- Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system (PubMed:23910462, PubMed:25205765, PubMed:31451806, PubMed:29742051). DYNC2I1 plays a major role in retrograde ciliary protein trafficking in cilia and flagella (PubMed:29742051, PubMed:30320547, PubMed:30649997). Requires a... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7451
ClinGen Curation ID:
CCID:007044
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:
- short-rib thoracic dysplasia 8 with or without polydactyly Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)