NEBL |
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)