NEDD9 |
- 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)