THOC6 (THO complex 6)

2014-11-01  

Identity

HGNC
THOC6
LOCATION
16p13.3
LOCUSID
79228
ALIAS
WDR58,fSAP35
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79228
MIM: 615403
HGNC: 28369
Ensembl: ENSG00000131652

Variants:

dbSNP: 79228
ClinVar: 79228
TCGA: ENSG00000131652
COSMIC: THOC6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131652ENST00000253952Q86W42
ENSG00000131652ENST00000326266Q86W42
ENSG00000131652ENST00000574549Q86W42
ENSG00000131652ENST00000575576Q86W42

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
THC complexKEGGhsa_M00405
TREX complexKEGGhsa_M00406
THC complexKEGGM00405
TREX complexKEGGM00406
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
354264862022Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.4
354264862022Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.4
271029542017Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.11
271029542017Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.11
267391622016Confirming the candidacy of THOC6 in the etiology of intellectual disability.5
267391622016Confirming the candidacy of THOC6 in the etiology of intellectual disability.5
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.9
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.9
199131212009Gene-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)