DNAH11
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DNAH11 (HGNC:2942) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
dynein axonemal heavy chain 11
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL
%HI
21.9(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.91(Read more about gnomAD LOEUF score)
Cytoband
7p15.3
Genomic Coordinates
GRCh37/hg19: chr7:21582657-21941457 NCBI Ensembl UCSC
GRCh38/hg38: chr7:21543039-21901839 NCBI Ensembl UCSC
MANE Select Transcript
NM_001277115.2 ENST00000409508.8 (Read more about MANE Select)
Function
Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28337
ClinGen Curation ID:
CCID:007012
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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 Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)