Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
WDR58,fSAP35
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79228
MIM: 615403
HGNC: 28369
Ensembl: ENSG00000131652
Variants:
dbSNP: 79228
ClinVar: 79228
TCGA: ENSG00000131652
COSMIC: THOC6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000131652 | ENST00000253952 | Q86W42 |
| ENSG00000131652 | ENST00000326266 | Q86W42 |
| ENSG00000131652 | ENST00000574549 | Q86W42 |
| ENSG00000131652 | ENST00000575576 | Q86W42 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35426486 | 2022 | Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. | 4 |
| 35426486 | 2022 | Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. | 4 |
| 27102954 | 2017 | Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. | 11 |
| 27102954 | 2017 | Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. | 11 |
| 26739162 | 2016 | Confirming the candidacy of THOC6 in the etiology of intellectual disability. | 5 |
| 26739162 | 2016 | Confirming the candidacy of THOC6 in the etiology of intellectual disability. | 5 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19773279 | 2009 | Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. | 9 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19773279 | 2009 | Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. | 9 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
THOC6 (THO complex 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74681/thoc6-(tho-complex-6)
