NELFA |
- 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)
Related Links:
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)