• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NELFA (HGNC:12768) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
negative elongation factor complex member A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
WHSC2
Alias symbols
NELF-A
%HI
62.86(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.13(Read more about gnomAD pLI score)
LOEUF
0.51(Read more about gnomAD LOEUF score)
Cytoband
4p16.3
Genomic Coordinates
GRCh37/hg19: chr4:1984450-2010701 NCBI Ensembl UCSC
GRCh38/hg38: chr4:1982723-2008974 NCBI Ensembl UCSC
MANE Select Transcript
NM_005663.5 ENST00000382882.9 (Read more about MANE Select)
Function
Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P- TEFb kinase complex. {ECO:0000269|PubMed:10199401, ECO:0000269|PubMed:12563561, ECO:0000269|PubMed:12612062}. (Microbial infection) The NELF complex is involved in HIV-1 latency possibly involving recruitment of PCF11 to paused RNA polym... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11248
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
While haploinsufficiency for WHSC2 alone has not been demonstrated, deletions involving the larger 4p16.3 region cause the contiguous gene deletion disorder, Wolf-Hirschhorn syndrome (WHS) (MIM #194190). The patient described by Rauch et al., 2001 [PMID 11252005] had a de novo deletion of WHSC2 along with a few additional genes, making it one of the most focal deletions involving WHSC2 to date, still the involvement of additional gene complicates any conclusion of WHSC2 haplosensitivity. The patient did not meet all the clinical criteria for WHS, but did present with speech delay, low body weight for height, and minor facial anomalies. As deletions involving the larger Wolf-Hirschhorn region have a haploinsufficiency rating of 3, any deletion involving WHSC2 should be considered carefully for pathogenicity, keeping in mind that the haplosensitivity of WHSC2 alone is not understood.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
In a study comparing a large cohort of children with ID and/or DD to unaffected adult controls, the incidence of observed gains of WHSC2 was 7/15,767 cases vs 0/8,329 controls [PMID 21841781], however these duplications were non-focal and included additional genes. Thus the potential pathogenicity of increased WHSC2 gene dosage is currently unknown.

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)