• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CCN6 (HGNC:12771) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cellular communication network factor 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
WISP3
Alias symbols
WISP-3
%HI
48.76(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.84(Read more about gnomAD LOEUF score)
Cytoband
6q21
Genomic Coordinates
GRCh37/hg19: chr6:112375307-112390889 NCBI Ensembl UCSC
GRCh38/hg38: chr6:112052813-112069686 NCBI Ensembl UCSC
MANE Select Transcript
NM_198239.2 ENST00000368666.7 (Read more about MANE Select)
Function
Plays a role in mitochondrial electron transport and mitochondrial respiration (PubMed:27252383). Through its regulation of the mitochondrial function may play a role in normal postnatal skeletal growth and cartilage homeostasis (PubMed:27252383, PubMed:10471507). {ECO:0000269|PubMed:10471507, ECO:0000269|PubMed:27252383}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20391
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:
  • progressive pseudorheumatoid arthropathy of childhood Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)