TRIP6

thyroid hormone receptor interactor 6, the group of MicroRNA protein coding host genes|Zyxin family

Basic information

Region (hg38): 7:100867387-100873454

Links

ENSG00000087077

∙ NCBI:7205 ∙ OMIM:602933 ∙ HGNC:12311 ∙ Uniprot:Q15654 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIP6 gene.

not_specified (75 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIP6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003302.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			74 clinvar	1 clinvar	1 clinvar	76
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	74	2	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIP6	protein_coding	protein_coding	ENST00000200457	9	6317

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00326	0.995	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0768	281	285	0.987	0.0000170	2990
Missense in Polyphen		105	117.32	0.89501		1187
Synonymous	-0.136	129	127	1.02	0.00000847	1027
Loss of Function	2.70	8	21.5	0.372	0.00000108	236

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000150	0.000149
Ashkenazi Jewish	0.000201	0.000198
East Asian	0.000166	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000154	0.000149
Middle Eastern	0.000166	0.000109
South Asian	0.000164	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Relays signals from the cell surface to the nucleus to weaken adherens junction and promote actin cytoskeleton reorganization and cell invasiveness. Involved in lysophosphatidic acid-induced cell adhesion and migration. Acts as a transcriptional coactivator for NF-kappa-B and JUN, and mediates the transrepression of these transcription factors induced by glucocorticoid receptor. {ECO:0000269|PubMed:14688263, ECO:0000269|PubMed:15489293, ECO:0000269|PubMed:16624523, ECO:0000269|PubMed:19017743}.;
Pathway: NOD-like receptor signaling pathway - Homo sapiens (human);EGFR1;LPA receptor mediated events;AP-1 transcription factor network (Consensus)

Recessive Scores

pRec: 0.149

Intolerance Scores

loftool: 0.294
rvis_EVS: 0.2
rvis_percentile_EVS: 67.36

Haploinsufficiency Scores

pHI: 0.418
hipred: Y
hipred_score: 0.701
ghis: 0.505

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.952

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Trip6
Phenotype

Zebrafish Information Network

Gene name: trip6
Affected structure: muscle cell
Phenotype tag: abnormal
Phenotype quality: structure

Gene ontology

Biological process: positive regulation of cell migration;focal adhesion assembly;positive regulation of NIK/NF-kappaB signaling
Cellular component: nucleus;cytosol;cytoskeleton;plasma membrane;focal adhesion
Molecular function: RNA binding;interleukin-1 receptor binding;protein binding;kinase binding;metal ion binding;thyroid hormone receptor binding