NCKAP5L
Homo sapiens
Gene Name: NCK-associated protein 5-like
Aliases: FP1193, KIAA1602
Chromosome No: 12
Chromosome Band: 12q13.12
Genetic Category: Rare single gene variant
Aliases: FP1193, KIAA1602
Chromosome No: 12
Chromosome Band: 12q13.12
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 3
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A homozygous mutation in the NCKAP5L gene was found to segregate perfectly with disease in a multiplex ASD family. This mutation was not observed in 1340 control chromosomes. Two additional homozygous mutations and an additional compound heterozygous mutation in the NCKAP5L gene were identified in four ASD cases from the replication cohort that were not observed in 371 controls (Chahrour et al., 2012).
Molecular Function
Unknown
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN350R001a
missense_variant
c.32G>A
p.Gly11Asp
Familial
Both parents
Multiplex
GEN350R002b
missense_variant
NM_001037806:c.3198_3199GC>AG
p.Ala1066Ser
Familial
GEN350R006
missense_variant
c.2579C>A
p.Ser860Tyr
De novo
Unknown
Common
No Common Variants Available
