NCKAP1 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NCKAP1 (HGNC:7666) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- NCK associated protein 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- Nap1, HEM2, NAP125
- %HI
- 9.37(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.14(Read more about gnomAD LOEUF score)
- Cytoband
- 2q32.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:183773843-183903185 NCBI Ensembl UCSC GRCh38/hg38: chr2:182909115-183038457 NCBI Ensembl UCSC - MANE Select Transcript
- NM_013436.5 ENST00000361354.9 (Read more about MANE Select)
- Function
- Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes. {ECO:0000250|UniProtKB:P28660}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-19141
ClinGen Curation ID:
CCID:007524
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
12/27/2017
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Complex Neurodevelopmental Disorder Monarch
HI Evidence:
-
PUBMED:
27632392
Freed and Pevsner (2016) reported a de novo (potentially mosaic) frameshift variant (NM_205842.2:c.524_525insGT/p.Ala176X) in a patient with autism spectrum disorder.
-
PUBMED:
27824329
Wang et al., (2016) detected a de novo splicing variant c.3180+ 1G>A in a Chinese patient with ASD and global developmental delay among 1,543 probands with ASD.
-
PUBMED:
28940097
Anazi et al. (2017) reported a heterozygous nonsense variant c.3298G>T:p.Glu1100* segregated with intellectual disability in a large multigenerational family in an effort for discovering novel genetic causes of intellectual disability. This four generation pedigree had a total of 13 affected (not all were genotyped). Seven heterzygous carriers that were genotyped were all affected. Two unaffected individuals had normal genotype. The gene expression pattern suppport the involvement of NCKAP1 in brain function.
HI Evidence Comments:
This gene is extremely constrained against haploinsufficency in the human genome. Currently at least three independent null variants had been reported in patients with developmental delay (DD), autism spectrum disorder (ASD) and/or intellectual disability (ID). Multiple patients with large deletion involving this gene (and many other genes) exhibited DD/ID/ASD. No deletion involving NCKAP1 was reported in normal populations.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence suggesting triplosensitivity of NCKAP1 gene.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)