THOC7

THO complex subunit 7, the group of THO complex

Basic information

Region (hg38): 3:63833869-63863868

Links

ENSG00000163634 ∙ NCBI:80145 ∙ OMIM:611965 ∙ HGNC:29874 ∙ Uniprot:Q6I9Y2 ∙ 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 THOC7 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THOC7 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in THOC7

This is a list of pathogenic ClinVar variants found in the THOC7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-63834169-G-A		not specified	Uncertain significance (Oct 29, 2021)
3-63834172-T-G		not specified	Uncertain significance (Dec 28, 2022)
3-63835345-A-C		not specified	Uncertain significance (Feb 22, 2023)
3-63835387-T-G		not specified	Uncertain significance (Jun 09, 2022)
3-63836325-T-G		not specified	Uncertain significance (Apr 08, 2022)
3-63838045-C-T		not specified	Uncertain significance (Nov 22, 2022)
3-63838387-T-C		not specified	Uncertain significance (Dec 12, 2023)
3-63838440-T-C		not specified	Uncertain significance (Dec 19, 2022)
3-63838447-T-C		not specified	Uncertain significance (Oct 04, 2022)
3-63838470-G-A		not specified	Uncertain significance (Mar 22, 2023)
3-63838478-C-T		not specified	Uncertain significance (Oct 05, 2023)
3-63838490-C-A		not specified	Uncertain significance (Apr 07, 2022)
3-63838491-T-G		not specified	Uncertain significance (Apr 07, 2022)
3-63839690-T-C		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
THOC7	protein_coding	protein_coding	ENST00000295899	8	30034

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00608	0.975	125693	0	20	125713	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.09	76	108	0.704	0.00000577	1347
Missense in Polyphen		26	38.391	0.67724		442
Synonymous	-0.602	38	33.6	1.13	0.00000153	348
Loss of Function	2.06	6	14.4	0.416	8.07e-7	178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000125	0.000122
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000978	0.0000967
Middle Eastern	0.000110	0.000109
South Asian	0.0000991	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for efficient export of polyadenylated RNA. Acts as component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NFX1 pathway. {ECO:0000269|PubMed:15833825, ECO:0000269|PubMed:15998806, ECO:0000269|PubMed:17190602, ECO:0000269|PubMed:23222130}.
• Pathway: RNA transport - Homo sapiens (human);Gene expression (Transcription);RNA Polymerase II Transcription;Metabolism of RNA;Cleavage of Growing Transcript in the Termination Region ;RNA Polymerase II Transcription Termination;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3,-end processing;Transport of Mature Transcript to Cytoplasm;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.261
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

• pHI: 0.558
• hipred: Y
• hipred_score: 0.749
• ghis: 0.667

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.683

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Thoc7

Gene ontology

• Biological process: RNA export from nucleus;mRNA export from nucleus;RNA splicing;mRNA 3'-end processing;viral mRNA export from host cell nucleus
• Cellular component: transcription export complex;THO complex;THO complex part of transcription export complex;nuclear chromosome, telomeric region;nucleus;nucleoplasm;cytoplasm;cytosol;nuclear speck
• Molecular function: RNA binding;protein binding