C1QB |
- 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
- 0.25(Read more about gnomAD pLI score)
- LOEUF
- 1(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
ClinGen Curation ID:
CCID:006770
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:
- C1Q deficiency Monarch
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)