• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
C1QB (HGNC:1242) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
complement C1q B chain
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
69.46(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.15(Read more about gnomAD pLI score)
LOEUF
1.04(Read more about gnomAD LOEUF score)
Cytoband
1p36.12
Genomic Coordinates
GRCh37/hg19: chr1:22979729-22988130 NCBI Ensembl UCSC
GRCh38/hg38: chr1:22653236-22661637 NCBI Ensembl UCSC
MANE Select Transcript
NM_001378156.1 ENST00000509305.6 (Read more about MANE Select)
Function
C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-8492
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
01/17/2017

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Well documented loss of function mutations in autosomal recessive C1q deficiency. Carriers with no documented phenotype. (see PMID: 24160257, 25454803, 20560256, 2894352).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No publications describing gain of C1qB, duplications are not documented in the Database of Genomic Variants either.

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)