THOC6 (THO complex subunit 6)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79228
Gene name Gene Name - the full gene name approved by the HGNC.
THO complex subunit 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
THOC6
Synonyms (NCBI Gene) Gene synonyms aliases
MMRFCGU, WDR58, fSAP35
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615403 28369 ENSG00000131652
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome rs200426926, rs1567416845, rs772533643, rs199795381, rs578012528, rs1567415595, rs146682486, rs587777030, rs763344375, rs138632121 N/A
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease 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