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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)