THOC6 (THO complex subunit 6)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
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
miRNA miRNA information provided by mirtarbase database.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT022722 hsa-miR-124-3p Proteomics;Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615403 28369 ENSG00000131652
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Nucleocytoplasmic transport   Transport of Mature mRNA derived from an Intron-Containing Transcript
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Likely pathogenic; Pathogenic rs199795381 RCV005626150
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
RCV000680237
RCV000680238
RCV000782266
RCV000782265
RCV000054832
RCV001027973
RCV001254047
RCV001261871
RCV001261872
THOC6-related disorder Likely pathogenic; Pathogenic rs1567415819, rs2506465148, rs895532843, rs199795381 RCV003395428
RCV003391389
RCV003399906
RCV003403573
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs777777185, rs2506477604 -
Dystonia, early-onset, and/or spastic paraplegia Conflicting classifications of pathogenicity rs138632121, rs150940923, rs200426926 RCV005626114
RCV005626116
RCV005626118
Malignant tumor of urinary bladder Likely benign rs147432065 RCV005907794
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Congenital Abnormalities Associate 40760536
Developmental Disabilities Associate 40760536
Disorders of Sex Development Associate 40760536
Hematuria Associate 32655027
Hyperglycemic Hyperosmolar Nonketotic Coma Associate 37240180
Inflammation Associate 37240180
Periodontitis Associate 37240180
Proteinuria Associate 32655027