Property Summary

NCBI Gene PubMed Count 18
PubMed Score 36.43
PubTator Score 43.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count
Trichothiodystrophy Syndromes 5
Disease Target Count P-value
medulloblastoma, large-cell 6234 4.8548819346844E-6
ovarian cancer 8492 5.10498054672353E-6
atypical teratoid / rhabdoid tumor 4369 2.27316410177789E-5
pediatric high grade glioma 2712 6.48325542124752E-5
glioblastoma 5572 1.60514640629699E-4
pituitary cancer 1972 5.40783555638313E-4
pilocytic astrocytoma 3086 8.04939572193777E-4
osteosarcoma 7933 0.00124482720571741
lung cancer 4473 0.03185542476064
Polycystic Ovary Syndrome 335 0.0321084864943033
acute myeloid leukemia 785 0.0349583515628369
Disease Target Count Z-score Confidence
Cockayne syndrome 54 5.202 2.6
Xeroderma pigmentosum 41 5.059 2.5

Expression

  Differential Expression (11)

Disease log2 FC p
osteosarcoma 1.411 0.001
glioblastoma -2.000 0.000
atypical teratoid / rhabdoid tumor -1.600 0.000
medulloblastoma, large-cell -1.800 0.000
lung cancer 1.500 0.032
pediatric high grade glioma -1.600 0.000
pilocytic astrocytoma -1.100 0.001
Polycystic Ovary Syndrome 1.155 0.032
acute myeloid leukemia -1.300 0.035
ovarian cancer 2.100 0.000
pituitary cancer 1.200 0.001

Synonym

Accession Q6ZYL4 Q0P5V8
Symbols TTD
TFB5
TTD3
TTDA
TFIIH
TTD-A
TGF2H5
C6orf175
bA120J8.2

Gene

PDB

5IY6   5IY7   5IY8   5IY9   5IVW   1YDL   2JNJ  

  Ortholog (11)

Species Source
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Platypus OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid

 GO Function (1)

 MGI Term (1)

 GWAS Trait (1)

Gene RIF (8)

PMID Text
26463438 Low levels of GTF2H5 are associated with enhanced prognosis in high-grade serous ovarian cancer patients and may contribute to cisplatin sensitization.
25620205 Transcriptional differences found between various TFIIH subunit variants participate in the phenotypic variability observed among xeroderma pigmentosum, XP associated with Cockayne syndrome, and trichothiodystrophy individuals.
23729738 Findings give new insights into the behavior of TTDA within the context of a living cell and thereby shed light on the complex phenotype of TTD-A patients.
20522537 Observational study of gene-disease association. (HuGE Navigator)
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17350038 The solution structure of the p8/TTD-A protein, a small alpha/beta protein built around an antiparallel beta-sheet that forms a homodimer with an extended interface, is reported.
16669699 TTDA is the first Transcription Factor IIH subunit with a primarily nucleotide excision repair-dedicated role in vivo.
16427011 p8/TTD-A, the tenth subunit of TFIIH, has a critical role in DNA repair where it triggers DNA opening by stimulating XPB ATPase activity together with the damage recognition factor XPC-hHR23B.

AA Sequence

MVNVLKGVLIECDPAMKQFLLYLDESNALGKKFIIQDIDDTHVFVIAELVNVLQERVGELMDQNAFSLTQ      1 - 70
K//

Text Mined References (19)

PMID Year Title
27193682 2016 Near-atomic resolution visualization of human transcription promoter opening.
26463438 2016 The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients.
25620205 2015 TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
24665060 2014 Genome-wide association study of smoking behaviours among Bangladeshi adults.
23729738 2013 In vivo interactions of TTDA mutant proteins within TFIIH.
23637614 2013 Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.
20522537 2010 Variation within DNA repair pathway genes and risk of multiple sclerosis.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17350038 2007 Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy.
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