TRIP4
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TRIP4 (HGNC:12310) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
thyroid hormone receptor interactor 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HsT17391, ZC2HC5, ASC-1
%HI
18.24(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.8(Read more about gnomAD LOEUF score)
Cytoband
15q22.31
Genomic Coordinates
GRCh37/hg19: chr15:64680035-64747502 NCBI Ensembl UCSC
GRCh38/hg38: chr15:64387836-64455303 NCBI Ensembl UCSC
MANE Select Transcript
NM_016213.5 ENST00000261884.8 (Read more about MANE Select)
Function
Transcription coactivator which associates with nuclear receptors, transcriptional coactivators including EP300, CREBBP and NCOA1, and basal transcription factors like TBP and TFIIA to facilitate nuclear receptors-mediated transcription (PubMed:10454579, PubMed:25219498). May thereby play an important role in establishing distinct coactivator complexes under different cellular conditions (PubMed:10454579, PubMed:25219498). Plays a role in thyroid hormone receptor and estrogen receptor transactiv... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10500
ClinGen Curation ID:
CCID:008046
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/17/2018

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • spinal muscular atrophy with congenital bone fractures 1 Monarch
HI Evidence Comments:
Mutations affecting both copies of TRIP4 are associated with autosomal recessive spinal muscular atrophy with congenital bone fractures 1 (SMABF1); functional studies support bi-allelic loss-of-function as the mutational mechanism for this condition.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)