CCIN
Homo sapiens
Gene Name: calicin
Aliases: BTBD20, KBTBD14
Chromosome No: 9
Chromosome Band: 9p13.3
Genetic Category: Rare single gene variant-
Aliases: BTBD20, KBTBD14
Chromosome No: 9
Chromosome Band: 9p13.3
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 2
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 7
Evidence score: 2
ASD Reports: 2
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo variants (one frameshift, one missense ) in the CCIN gene were observed in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014). TADA analysis of 4,504 ASD trios and 3,012 unaffected control/siblings trios from trio-based exome/genome sequencing studies identified CCIN as an ASD candidate gene with a q-value < 0.1 (Du et al., 2019).
Molecular Function
The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Nonrandom occurrence of multiple de novo coding variants in a proband indicates the existence of an oligogenic model in autism.
ASD