AICDA |
- 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:
- hyper-IgM syndrome type 2 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)