Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	79228
Gene name	THO complex subunit 6
Gene symbol	THOC6
Synonyms (NCBI Gene)	MMRFCGUWDR58fSAP35
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and ex

SNP ID	Visualize variation	Clinical significance	Consequence
rs150940923	G>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs199795381	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1567416845	A>C	Pathogenic	Missense variant, coding sequence variant

miRTarBase ID	miRNA	Experiments	Reference
MIRT022722	hsa-miR-124-3p	Proteomics;Microarray	18668037

21 Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000346	Component	Transcription export complex	IBA
GO:0000346	Component	Transcription export complex	IDA	15833825, 15998806
GO:0000347	Component	THO complex	IBA
GO:0000347	Component	THO complex	IDA	15998806
GO:0000445	Component	THO complex part of transcription export complex	IDA	15998806
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0003723	Function	RNA binding	IEA
GO:0005634	Component	Nucleus	IDA	23621916
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0006406	Process	MRNA export from nucleus	IBA
GO:0006406	Process	MRNA export from nucleus	IDA	17190602
GO:0006915	Process	Apoptotic process	IEA
GO:0007417	Process	Central nervous system development	IMP	23621916
GO:0008380	Process	RNA splicing	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0051028	Process	MRNA transport	IEA

MIM	HGNC	e!Ensembl
615403	28369	ENSG00000131652

Q86W42

Protein name

THO complex subunit 6 (Functional spliceosome-associated protein 35) (fSAP35) (WD repeat-containing protein 58)

Protein function

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 (PubMed:15833825, PubMed:159988

PDB

7APK , 7ZNK , 7ZNL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	158 → 196	WD domain, G-beta repeat	Repeat

Sequence

MERAVPLAVPLGQTEVFQALQRLHMTIFSQSVSPCGKFLAAGNNYGQIAIFSLSSALSSE
AKEESKKPVVTFQAHDGPVYSMVSTDRHLLSAGDGEVKAWLWAEMLKKGCKELWRRQPPY
RTSLEVPEINALLLVPKENSLILAGGDCQLHTMDLETGTFTRVLRGHTDYIHCLALRERS
PEVLSGGEDGAVRLWDLRTAKEVQTIEVYKHEECSRPHNGRWIGCLATDSDWMVCGGGPA
LTLWHLRSSTPTTIFPIRAPQKHVTFYQDLILSAGQGRCVNQWQLSGELKAQVPGSSPGL
LSLSLNQQPAAPECKVLTAAGNSCRVDVFTNLGYRAFSLSF

Sequence length

341

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Nucleocytoplasmic transport	Transport of Mature mRNA derived from an Intron-Containing Transcript
	mRNA 3'-end processing
	RNA Polymerase II Transcription Termination

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic; Pathogenic	rs199795381	RCV005626150	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Likely pathogenic; Pathogenic	rs2151134923, rs754379725, rs2072821846, rs763344375, rs1567416845, rs772533643, rs199795381, rs578012528, rs1567415595, rs587777030, rs146682486, rs374551434, rs1194408714, rs773022351	RCV003331143 RCV001783869 RCV001783870 RCV000680235 RCV000680236 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THOC6-related disorder	Likely pathogenic; Pathogenic	rs1567415819, rs2506465148, rs895532843, rs199795381	RCV003395428 RCV003391389 RCV003399906 RCV003403573	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Dystonia, early-onset, and/or spastic paraplegia	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (32)
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	40760536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	40760536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	40760536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11060033, 15998806, 19059247, 20503307, 23621916, 26739162, 27102954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	32655027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23621916, 27102954, 30238602, 30476144, 31421288		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11060033, 15998806, 19059247, 20503307, 23621916, 26739162, 27102954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	37240180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	32655027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	GENOMICS_ENGLAND_DG	23621916, 26739162		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	ORPHANET_DG	23621916		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	UNIPROT_DG	23621916		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	CLINVAR_DG	27102954, 27295358		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	BEFREE	30238602, 30476144, 31421288		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

THOC6 (THO complex subunit 6)

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