• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NEDD9 (HGNC:7733) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
neural precursor cell expressed, developmentally down-regulated 9
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HEF1, CAS-L, CASS2
%HI
29.54(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.13(Read more about gnomAD pLI score)
LOEUF
0.44(Read more about gnomAD LOEUF score)
Cytoband
6p24.2
Genomic Coordinates
GRCh37/hg19: chr6:11183531-11382581 NCBI Ensembl UCSC
GRCh38/hg38: chr6:11183298-11382348 NCBI Ensembl UCSC
MANE Select Transcript
NM_006403.4 ENST00000379446.10 (Read more about MANE Select)
Function
Scaffolding protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion (PubMed:24574519). As a focal adhesion protein, plays a role in embryonic fibroblast migration (By similarity). May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRKL and SHPTP2 to the tyrosine phosphorylated form (PubMed:9020138). P... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12536
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/27/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • Complex Neurodevelopmental Disorder Monarch
HI Evidence:
  • PUBMED: 25363768
    Iossifov et al (2018) performed exome sequencing on a large cohort of families with simplex autism spectrum disorder and analyzed de novo variation in the probands. One individual, from family 14122, was observed to have a heterozygous, de novo frameshifting variant in NEDD9 (GRCh37, chr6:11192636TGAAAACA>T). This variant is present in each NEDD9 isoform and is expected to result in nonsense mediated decay of the transcripts.
HI Evidence Comments:
The EuroEPINOMICS-RES Consortium paper (PMID 25262651, 2014) performed trio exome sequencing on families affected by epileptic encephalopathies, infantile spasms, or Lennox-Gastaut syndrome. One patient (lgsnd37855ajb1) was observed to have de novo variation in NEDD9 that altered two adjacent nucleotides (GRCh37, chr6:11185546T>C and chr6:11185547C>A) in the same codon. The study did not determine whether these variants were present in cis or trans. If they are present on the same allele, this mutational event will replace a glutamic acid residue with a tryptophan residue. However, if the variants are in trans, one of them is predicted to result in a premature stop codon, and is annotated as putative loss of function in the paper's supplemental table.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)