CCN6 |
- 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)