• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AICDA (HGNC:13203) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
activation induced cytidine deaminase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HIGM2, CDA2, ARP2, AID
%HI
24.45(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.33(Read more about gnomAD LOEUF score)
Cytoband
12p13.31
Genomic Coordinates
GRCh37/hg19: chr12:8754766-8765455 NCBI Ensembl UCSC
GRCh38/hg38: chr12:8602170-8612859 NCBI Ensembl UCSC
MANE Select Transcript
NM_020661.4 ENST00000229335.11 (Read more about MANE Select)
Function
Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation (SHM), gene conversion, and class-switch recombination (CSR) in B-lymphocytes by deaminating C to U during transcription of Ig-variable (V) and Ig-switch (S) region DNA. Required for several crucial steps of B-cell terminal differentiation necessary for efficient antibody responses (PubMed:18722174, PubMed:21385873, PubMed:21518874, PubMed:27716525). May also play a role in the epigenetic regulation of gene expres... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18981
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:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)