Gene Page: GTF2H1
Summary ?
GeneID | 2965 |
Symbol | GTF2H1 |
Synonyms | BTF2|P62|TFB1|TFIIH |
Description | general transcription factor IIH subunit 1 |
Reference | MIM:189972|HGNC:HGNC:4655|Ensembl:ENSG00000110768|HPRD:01807|Vega:OTTHUMG00000167690 |
Gene type | protein-coding |
Map location | 11p15.1-p14 |
Pascal p-value | 0.352 |
Sherlock p-value | 0.677 |
Fetal beta | 0.532 |
eGene | Caudate basal ganglia Cerebellum Cortex Frontal Cortex BA9 Hippocampus Hypothalamus Nucleus accumbens basal ganglia Myers' cis & trans |
Gene in Data Sources
Gene set name | Method of gene set | Description | Info |
---|---|---|---|
CV:PGCnp | Genome-wide Association Study | GWAS | |
PMID:cooccur | High-throughput literature-search | Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included. | |
Literature | High-throughput literature-search | Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias | Click to show details |
Network | Shortest path distance of core genes in the Human protein-protein interaction network | Contribution to shortest path in PPI network: 0.0312 |
Section I. Genetics and epigenetics annotation
eQTL annotation
SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
---|---|---|---|---|---|---|---|---|
rs6025385 | chr20 | 55703712 | GTF2H1 | 2965 | 0.04 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
Top co-expressed genes in brain regions
Top 10 positively co-expressed genes | ||
Gene | Pearson's Correlation | Spearman's Correlation |
SERTAD4 | 0.82 | 0.63 |
LAMC2 | 0.82 | 0.58 |
FOXO1 | 0.81 | 0.34 |
TSPAN9 | 0.80 | 0.56 |
FAM40B | 0.80 | 0.17 |
FOXP1 | 0.79 | 0.78 |
NCOA1 | 0.79 | 0.78 |
P2RY1 | 0.78 | 0.15 |
RYBP | 0.77 | 0.83 |
C13orf29 | 0.76 | 0.32 |
Top 10 negatively co-expressed genes | ||
Gene | Pearson's Correlation | Spearman's Correlation |
FXYD1 | -0.45 | -0.67 |
AF347015.31 | -0.44 | -0.66 |
MT-CO2 | -0.44 | -0.68 |
HIGD1B | -0.43 | -0.67 |
AF347015.33 | -0.43 | -0.63 |
COPZ2 | -0.42 | -0.63 |
AF347015.8 | -0.42 | -0.65 |
AC021016.1 | -0.42 | -0.66 |
MT-CYB | -0.42 | -0.63 |
AF347015.2 | -0.42 | -0.64 |
Section III. Gene Ontology annotation
Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
---|---|---|---|---|
GO:0005515 | protein binding | IPI | 8652557 | |
GO:0008353 | RNA polymerase subunit kinase activity | TAS | 7533895 | |
GO:0016251 | general RNA polymerase II transcription factor activity | TAS | 9118947 | |
Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0000079 | regulation of cyclin-dependent protein kinase activity | TAS | 7533895 | |
GO:0000718 | nucleotide-excision repair, DNA damage removal | EXP | 10583946 | |
GO:0006355 | regulation of transcription, DNA-dependent | IEA | - | |
GO:0006367 | transcription initiation from RNA polymerase II promoter | EXP | 8946909 | |
GO:0006368 | RNA elongation from RNA polymerase II promoter | EXP | 9405375 | |
GO:0006350 | transcription | IEA | - | |
GO:0006281 | DNA repair | TAS | 9118947 | |
GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | IDA | 8692841 | |
Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0005634 | nucleus | IEA | - | |
GO:0005654 | nucleoplasm | EXP | 1939271 |2449431 |8946909 |9512541 |9582279 |9790902 |10214908 |11313499 |12393749 |12646563 | |
GO:0005675 | holo TFIIH complex | TAS | 9118947 |
Section IV. Protein-protein interaction annotation
Interactors | Aliases B | Official full name B | Experimental | Source | PubMed ID |
---|---|---|---|---|---|
AR | AIS | DHTR | HUMARA | KD | NR3C4 | SBMA | SMAX1 | TFM | androgen receptor | - | HPRD,BioGRID | 10734072 |11266437 |
ATF7IP | FLJ10139 | FLJ10688 | MCAF | p621 | activating transcription factor 7 interacting protein | - | HPRD | 10777215 |
CCNH | CAK | p34 | p37 | cyclin H | - | HPRD,BioGRID | 7533895 |
CDK7 | CAK1 | CDKN7 | MO15 | STK1 | p39MO15 | cyclin-dependent kinase 7 | - | HPRD,BioGRID | 9130708 |
E2F1 | E2F-1 | RBAP1 | RBBP3 | RBP3 | E2F transcription factor 1 | - | HPRD,BioGRID | 10428966 |
ERCC2 | COFS2 | EM9 | MGC102762 | MGC126218 | MGC126219 | TTD | XPD | excision repair cross-complementing rodent repair deficiency, complementation group 2 | Affinity Capture-Western Reconstituted Complex | BioGRID | 8152490 |9130708 |
ERCC3 | BTF2 | GTF2H | RAD25 | TFIIH | XPB | excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) | Affinity Capture-Western Co-purification | BioGRID | 9118947 |9130708 |15220921 |
ERCC3 | BTF2 | GTF2H | RAD25 | TFIIH | XPB | excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) | - | HPRD | 8194528 |9118947 |
ERCC5 | COFS3 | ERCM2 | UVDR | XPG | XPGC | excision repair cross-complementing rodent repair deficiency, complementation group 5 | - | HPRD | 8652557 |
ESR1 | DKFZp686N23123 | ER | ESR | ESRA | Era | NR3A1 | estrogen receptor 1 | - | HPRD,BioGRID | 10949034 |
FUBP1 | FBP | FUBP | far upstream element (FUSE) binding protein 1 | - | HPRD,BioGRID | 11239393 |
GTF2E1 | FE | TF2E1 | TFIIE-A | general transcription factor IIE, polypeptide 1, alpha 56kDa | - | HPRD | 11113176 |
HNRNPU | HNRPU | SAF-A | U21.1 | heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) | - | HPRD | 10490622 |
KIAA1128 | FLJ14262 | FLJ25809 | Gcap14 | bA486O22.1 | KIAA1128 | Two-hybrid | BioGRID | 16169070 |
KIF13A | FLJ27232 | bA500C11.2 | kinesin family member 13A | - | HPRD | 10777215 |
MMS19 | FLJ34167 | FLJ95146 | MET18 | MGC99604 | MMS19L | hMMS19 | MMS19 nucleotide excision repair homolog (S. cerevisiae) | - | HPRD | 11071939 |
PLCG1 | PLC-II | PLC1 | PLC148 | PLCgamma1 | phospholipase C, gamma 1 | - | HPRD | 10467411 |
POLR2A | MGC75453 | POLR2 | POLRA | RPB1 | RPBh1 | RPO2 | RPOL2 | RpIILS | hRPB220 | hsRPB1 | polymerase (RNA) II (DNA directed) polypeptide A, 220kDa | - | HPRD | 9710619 |
PSMC2 | MGC3004 | MSS1 | Nbla10058 | S7 | proteasome (prosome, macropain) 26S subunit, ATPase, 2 | - | HPRD,BioGRID | 11118327 |
TCEA1 | GTF2S | SII | TCEA | TF2S | TFIIS | transcription elongation factor A (SII), 1 | Reconstituted Complex | BioGRID | 9305922 |9765293 |
TP53 | FLJ92943 | LFS1 | TRP53 | p53 | tumor protein p53 | - | HPRD,BioGRID | 7935417 |
Section V. Pathway annotation
Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
---|---|---|---|
KEGG BASAL TRANSCRIPTION FACTORS | 36 | 24 | All SZGR 2.0 genes in this pathway |
KEGG NUCLEOTIDE EXCISION REPAIR | 44 | 25 | All SZGR 2.0 genes in this pathway |
REACTOME RNA POL I TRANSCRIPTION TERMINATION | 22 | 12 | All SZGR 2.0 genes in this pathway |
REACTOME RNA POL I TRANSCRIPTION | 89 | 64 | All SZGR 2.0 genes in this pathway |
REACTOME RNA POL II TRANSCRIPTION | 105 | 54 | All SZGR 2.0 genes in this pathway |
REACTOME MRNA CAPPING | 30 | 11 | All SZGR 2.0 genes in this pathway |
REACTOME TRANSCRIPTION COUPLED NER TC NER | 45 | 24 | All SZGR 2.0 genes in this pathway |
REACTOME RNA POL II TRANSCRIPTION PRE INITIATION AND PROMOTER OPENING | 41 | 21 | All SZGR 2.0 genes in this pathway |
REACTOME MRNA PROCESSING | 161 | 86 | All SZGR 2.0 genes in this pathway |
REACTOME TRANSCRIPTION | 210 | 127 | All SZGR 2.0 genes in this pathway |
REACTOME NUCLEOTIDE EXCISION REPAIR | 51 | 27 | All SZGR 2.0 genes in this pathway |
REACTOME FORMATION OF RNA POL II ELONGATION COMPLEX | 45 | 19 | All SZGR 2.0 genes in this pathway |
REACTOME FORMATION OF TRANSCRIPTION COUPLED NER TC NER REPAIR COMPLEX | 30 | 13 | All SZGR 2.0 genes in this pathway |
REACTOME RNA POL I RNA POL III AND MITOCHONDRIAL TRANSCRIPTION | 122 | 80 | All SZGR 2.0 genes in this pathway |
REACTOME DNA REPAIR | 112 | 59 | All SZGR 2.0 genes in this pathway |
REACTOME RNA POL II PRE TRANSCRIPTION EVENTS | 61 | 32 | All SZGR 2.0 genes in this pathway |
REACTOME GLOBAL GENOMIC NER GG NER | 35 | 20 | All SZGR 2.0 genes in this pathway |
REACTOME FORMATION OF INCISION COMPLEX IN GG NER | 23 | 11 | All SZGR 2.0 genes in this pathway |
REACTOME HIV INFECTION | 207 | 122 | All SZGR 2.0 genes in this pathway |
REACTOME HIV LIFE CYCLE | 125 | 69 | All SZGR 2.0 genes in this pathway |
REACTOME FORMATION OF THE HIV1 EARLY ELONGATION COMPLEX | 34 | 11 | All SZGR 2.0 genes in this pathway |
REACTOME LATE PHASE OF HIV LIFE CYCLE | 104 | 61 | All SZGR 2.0 genes in this pathway |
REACTOME RNA POL I TRANSCRIPTION INITIATION | 25 | 14 | All SZGR 2.0 genes in this pathway |
GARY CD5 TARGETS DN | 431 | 263 | All SZGR 2.0 genes in this pathway |
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP | 1382 | 904 | All SZGR 2.0 genes in this pathway |
AMUNDSON RESPONSE TO ARSENITE | 217 | 143 | All SZGR 2.0 genes in this pathway |
MOHANKUMAR TLX1 TARGETS UP | 414 | 287 | All SZGR 2.0 genes in this pathway |
WANG HCP PROSTATE CANCER | 111 | 69 | All SZGR 2.0 genes in this pathway |
PUJANA BRCA1 PCC NETWORK | 1652 | 1023 | All SZGR 2.0 genes in this pathway |
NUYTTEN EZH2 TARGETS DN | 1024 | 594 | All SZGR 2.0 genes in this pathway |
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP | 811 | 508 | All SZGR 2.0 genes in this pathway |
KAUFFMANN DNA REPAIR GENES | 230 | 137 | All SZGR 2.0 genes in this pathway |
NADLER HYPERGLYCEMIA AT OBESITY | 58 | 35 | All SZGR 2.0 genes in this pathway |
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP | 390 | 242 | All SZGR 2.0 genes in this pathway |
BLALOCK ALZHEIMERS DISEASE UP | 1691 | 1088 | All SZGR 2.0 genes in this pathway |
TAKAO RESPONSE TO UVB RADIATION DN | 98 | 67 | All SZGR 2.0 genes in this pathway |
JACKSON DNMT1 TARGETS UP | 77 | 57 | All SZGR 2.0 genes in this pathway |
MARTINEZ RESPONSE TO TRABECTEDIN DN | 271 | 175 | All SZGR 2.0 genes in this pathway |
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP | 953 | 554 | All SZGR 2.0 genes in this pathway |
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN | 1011 | 592 | All SZGR 2.0 genes in this pathway |
MONNIER POSTRADIATION TUMOR ESCAPE UP | 393 | 244 | All SZGR 2.0 genes in this pathway |
LEE METASTASIS AND ALTERNATIVE SPLICING DN | 45 | 31 | All SZGR 2.0 genes in this pathway |
HOFFMANN PRE BI TO LARGE PRE BII LYMPHOCYTE DN | 75 | 61 | All SZGR 2.0 genes in this pathway |
PILON KLF1 TARGETS DN | 1972 | 1213 | All SZGR 2.0 genes in this pathway |
IKEDA MIR30 TARGETS UP | 116 | 87 | All SZGR 2.0 genes in this pathway |
DELACROIX RAR BOUND ES | 462 | 273 | All SZGR 2.0 genes in this pathway |
RATTENBACHER BOUND BY CELF1 | 467 | 251 | All SZGR 2.0 genes in this pathway |
ROESSLER LIVER CANCER METASTASIS UP | 107 | 72 | All SZGR 2.0 genes in this pathway |
Section VI. microRNA annotation
miRNA family | Target position | miRNA ID | miRNA seq | ||
---|---|---|---|---|---|
UTR start | UTR end | Match method | |||
miR-10 | 451 | 458 | 1A,m8 | hsa-miR-10a | UACCCUGUAGAUCCGAAUUUGUG |
hsa-miR-10b | UACCCUGUAGAACCGAAUUUGU | ||||
miR-148/152 | 668 | 675 | 1A,m8 | hsa-miR-148a | UCAGUGCACUACAGAACUUUGU |
hsa-miR-152brain | UCAGUGCAUGACAGAACUUGGG | ||||
hsa-miR-148b | UCAGUGCAUCACAGAACUUUGU | ||||
miR-19 | 153 | 159 | 1A | hsa-miR-19a | UGUGCAAAUCUAUGCAAAACUGA |
hsa-miR-19b | UGUGCAAAUCCAUGCAAAACUGA | ||||
miR-30-5p | 300 | 306 | m8 | hsa-miR-30a-5p | UGUAAACAUCCUCGACUGGAAG |
hsa-miR-30cbrain | UGUAAACAUCCUACACUCUCAGC | ||||
hsa-miR-30dSZ | UGUAAACAUCCCCGACUGGAAG | ||||
hsa-miR-30bSZ | UGUAAACAUCCUACACUCAGCU | ||||
hsa-miR-30e-5p | UGUAAACAUCCUUGACUGGA | ||||
miR-330 | 834 | 841 | 1A,m8 | hsa-miR-330brain | GCAAAGCACACGGCCUGCAGAGA |
miR-363 | 794 | 800 | 1A | hsa-miR-363 | AUUGCACGGUAUCCAUCUGUAA |
miR-378 | 316 | 322 | 1A | hsa-miR-378 | CUCCUGACUCCAGGUCCUGUGU |
- SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
- Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.