Aliases: AIBC1, NABC1
Chromosome No: 20
Chromosome Band: 20q13.2
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module. Sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism; this finding was further validated by exome sequencing of an independent cohort of 505 ASD cases and 491 controls (Li et al., 2014).
Molecular Function
This gene is a candidate oncogene that resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. It is expressed in brain and prostate, and at lower levels in testis, intestine and colon, overexpressed in most breast cancer cell lines, and down-regulated in some colorectal tumors.
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