ELK1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ELK1 (HGNC:3321) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ETS transcription factor ELK1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
43.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.94(Read more about gnomAD pLI score)
LOEUF
0.34(Read more about gnomAD LOEUF score)
Cytoband
Xp11.23
Genomic Coordinates
GRCh37/hg19: chrX:47494919-47510003 NCBI Ensembl UCSC
GRCh38/hg38: chrX:47635520-47650604 NCBI Ensembl UCSC
MANE Select Transcript
NM_001114123.3 ENST00000376983.8 (Read more about MANE Select)
Function
Transcription factor that binds to purine-rich DNA sequences. Forms a ternary complex with SRF and the ETS and SRF motifs of the serum response element (SRE) on the promoter region of immediate early genes such as FOS and IER2. Induces target gene transcription upon JNK- signaling pathway stimulation (By similarity). {ECO:0000250|UniProtKB:A4GTP4, ECO:0000269|PubMed:1630903, ECO:0000269|PubMed:7889942}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23556
ClinGen Curation ID:
CCID:007065
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
09/26/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There has been a single report of a T108A missense mutation within a family with X-linked intellectual disability, segregating amongst affected males and obligate carrier females (PMID: 11186900). It was not observed amongst 150 control X chromosomes. The authors report that both control and patient RNA yielded the predicted normal PCR products after reverse transcription using two Elk-1 primer combinations surrounding the mutation; gross structure of the transactivation domain is not disturbed by the mutation; and the in vivo transactivation potential of Elk-1 is not grossly disturbed by the mutation.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)