Gene Facts External Data Attribution

HGNC Symbol
NEBL (HGNC:16932) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
nebulette
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C10orf113
Alias symbols
LASP2, LNEBL, bA165O3.1
%HI
21.79(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.86(Read more about gnomAD LOEUF score)
Cytoband
10p12.31
Genomic Coordinates
GRCh37/hg19: chr10:21068902-21581979 NCBI Ensembl UCSC
GRCh38/hg38: chr10:20779973-21293050 NCBI Ensembl UCSC
MANE Select Transcript
NM_006393.3 ENST00000377122.9 (Read more about MANE Select)
Function
Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). Isoform 2 might play a role in the assembly of focal adhesion (PubMed:15004028). {ECO:0000269|PubMed:15004028, ECO:0000269|PubMed:27733623}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35853
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)