TRIOBP

TRIO and F-actin binding protein, the group of Pleckstrin homology domain containing

Basic information

Region (hg38): 22:37697048-37776556

Previous symbols: [ "DFNB28" ]

Links

ENSG00000100106

∙ NCBI:11078 ∙ OMIM:609761 ∙ HGNC:17009 ∙ Uniprot:Q9H2D6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

autosomal recessive nonsyndromic hearing loss 28 (Strong), mode of inheritance: AR
autosomal recessive nonsyndromic hearing loss 28 (Strong), mode of inheritance: AR
autosomal recessive nonsyndromic hearing loss 28 (Definitive), mode of inheritance: AR
hearing loss, autosomal recessive (Supportive), mode of inheritance: AR
hearing loss, autosomal recessive (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, autosomal recessive 28	AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic	16385457; 16385458; 23226338

ClinVar

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

not_provided (803 variants)
not_specified (156 variants)
Autosomal_recessive_nonsyndromic_hearing_loss_28 (117 variants)
Inborn_genetic_diseases (80 variants)
TRIOBP-related_disorder (73 variants)
Hearing_impairment (9 variants)
Rare_genetic_deafness (6 variants)
Meniere_disease (4 variants)
Hearing_loss,_autosomal_recessive (4 variants)
Nonsyndromic_genetic_hearing_loss (2 variants)
Deafness (1 variants)
TRIOBP-related_hearing_loss (1 variants)
See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIOBP gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039141.3. 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			11 clinvar	182 clinvar	7 clinvar	200
missense		1 clinvar	407 clinvar	76 clinvar	15 clinvar	499
nonsense	30 clinvar	14 clinvar	3 clinvar			47
start loss						0
frameshift	25 clinvar	18 clinvar	1 clinvar			44
splice donor/acceptor (+/-2bp)	1 clinvar	7 clinvar	1 clinvar			9
Total	56	40	423	258	22

Highest pathogenic variant AF is 0.000488481

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIOBP	protein_coding	protein_coding	ENST00000406386	21	79553

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.02e-28	1.00	125403	0	345	125748	0.00137

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.196	1396	1.38e+3	1.01	0.0000908	14943
Missense in Polyphen		465	462.63	1.0051		4809
Synonymous	1.20	532	568	0.936	0.0000351	5092
Loss of Function	4.07	63	109	0.579	0.00000772	1025

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00245	0.00241
Ashkenazi Jewish	0.00231	0.00228
East Asian	0.000529	0.000489
Finnish	0.000727	0.000693
European (Non-Finnish)	0.00171	0.00165
Middle Eastern	0.000529	0.000489
South Asian	0.00129	0.00127
Other	0.00123	0.000978

dbNSFP

Source: dbNSFP

Function: FUNCTION: May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin formation and turnover. {ECO:0000269|PubMed:18194665}.;
Disease: DISEASE: Deafness, autosomal recessive, 28 (DFNB28) [MIM:609823]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:16385457, ECO:0000269|PubMed:16385458}. Note=The disease is caused by mutations affecting the gene represented in this entry.;

Intolerance Scores

loftool: 0.171
rvis_EVS: 2.97
rvis_percentile_EVS: 99.18

Haploinsufficiency Scores

pHI: 0.253
hipred: N
hipred_score: 0.270
ghis: 0.446

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.358

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

Gene name: Triobp
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype;

Gene ontology

Biological process: cell cycle;sensory perception of sound;actin modification;barbed-end actin filament capping;cell division;auditory receptor cell stereocilium organization;positive regulation of substrate adhesion-dependent cell spreading
Cellular component: nucleus;cytoplasm;microtubule organizing center;focal adhesion;actin cytoskeleton;midbody
Molecular function: GTP-Rho binding;ubiquitin protein ligase binding;myosin II binding;actin filament binding