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Fusion gene ID: 6587 |
FusionGeneSummary for CDK7_RIN3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CDK7_RIN3 | Fusion gene ID: 6587 | Hgene | Tgene | Gene symbol | CDK7 | RIN3 | Gene ID | 1022 | 79890 |
Gene name | cyclin dependent kinase 7 | Ras and Rab interactor 3 | |
Synonyms | CAK|CAK1|CDKN7|HCAK|MO15|STK1|p39MO15 | - | |
Cytomap | 5q13.2 | 14q32.12 | |
Type of gene | protein-coding | protein-coding | |
Description | cyclin-dependent kinase 739 KDa protein kinaseCDK-activating kinase 1TFIIH basal transcription factor complex kinase subunitcell division protein kinase 7cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)homolog of Xenop | ras and Rab interactor 3RAB5 interacting protein 3ras interaction/interference protein 3 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | P50613 | Q8TB24 | |
Ensembl transtripts involved in fusion gene | ENST00000256443, ENST00000514676, ENST00000502604, ENST00000513629, | ENST00000216487, ENST00000418924, ENST00000557762, | |
Fusion gene scores | * DoF score | 4 X 1 X 2=8 | 7 X 8 X 5=280 |
# samples | 4 | 10 | |
** MAII score | log2(4/8*10)=2.32192809488736 | log2(10/280*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CDK7 [Title/Abstract] AND RIN3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CDK7 | GO:0006366 | transcription by RNA polymerase II | 9852112 |
Hgene | CDK7 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8692841 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | PRAD | TCGA-VN-A88K-01A | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000256443 | ENST00000216487 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
5CDS-3UTR | ENST00000256443 | ENST00000418924 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
5CDS-intron | ENST00000256443 | ENST00000557762 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
Frame-shift | ENST00000514676 | ENST00000216487 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
5CDS-3UTR | ENST00000514676 | ENST00000418924 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
5CDS-intron | ENST00000514676 | ENST00000557762 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
5UTR-3CDS | ENST00000502604 | ENST00000216487 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
5UTR-3UTR | ENST00000502604 | ENST00000418924 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
5UTR-intron | ENST00000502604 | ENST00000557762 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
3UTR-3CDS | ENST00000513629 | ENST00000216487 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
3UTR-3UTR | ENST00000513629 | ENST00000418924 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
3UTR-intron | ENST00000513629 | ENST00000557762 | CDK7 | chr5 | 68531280 | + | RIN3 | chr14 | 93107583 | + |
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FusionProtFeatures for CDK7_RIN3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CDK7 | RIN3 |
Serine/threonine kinase involved in cell cycle controland in RNA polymerase II-mediated RNA transcription. Cyclin-dependent kinases (CDKs) are activated by the binding to a cyclinand mediate the progression through the cell cycle. Each differentcomplex controls a specific transition between 2 subsequent phasesin the cell cycle. Required for both activation and complexformation of CDK1/cyclin-B during G2-M transition, and foractivation of CDK2/cyclins during G1-S transition (but not complexformation). CDK7 is the catalytic subunit of the CDK-activatingkinase (CAK) complex. Phosphorylates SPT5/SUPT5H, SF1/NR5A1,POLR2A, p53/TP53, CDK1, CDK2, CDK4, CDK6 and CDK11B/CDK11. CAKactivates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6by threonine phosphorylation, thus regulating cell cycleprogression. CAK complexed to the core-TFIIH basal transcriptionfactor activates RNA polymerase II by serine phosphorylation ofthe repetitive C-terminal domain (CTD) of its large subunit(POLR2A), allowing its escape from the promoter and elongation ofthe transcripts. Phosphorylation of POLR2A in complex with DNApromotes transcription initiation by triggering dissociation fromDNA. Its expression and activity are constant throughout the cellcycle. Upon DNA damage, triggers p53/TP53 activation byphosphorylation, but is inactivated in turn by p53/TP53; thisfeedback loop may lead to an arrest of the cell cycle and of thetranscription, helping in cell recovery, or to apoptosis. Requiredfor DNA-bound peptides-mediated transcription and cellular growthinhibition. {ECO:0000269|PubMed:10024882,ECO:0000269|PubMed:11113184, ECO:0000269|PubMed:16327805,ECO:0000269|PubMed:17373709, ECO:0000269|PubMed:17386261,ECO:0000269|PubMed:17901130, ECO:0000269|PubMed:19015234,ECO:0000269|PubMed:19071173, ECO:0000269|PubMed:19136461,ECO:0000269|PubMed:19450536, ECO:0000269|PubMed:19667075,ECO:0000269|PubMed:20360007, ECO:0000269|PubMed:9372954,ECO:0000269|PubMed:9840937}. | Ras effector protein that functions as a guaninenucleotide exchange (GEF) for RAB5B and RAB31, by exchanging boundGDP for free GTP. Required for normal RAB31 function.{ECO:0000269|PubMed:12972505, ECO:0000269|PubMed:21586568}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CDK7_RIN3 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for CDK7_RIN3 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CDK7 | AR, GTF2H5, ERCC3, MTA1, MNAT1, HDAC2, ESR1, CUX1, GTF2H1, MED21, TCEA1, MCM7, CCNH, E2F1, HNRNPU, TP53, GTF2H2, CDC37, SUPT5H, RUVBL2, ERCC5, HSP90AB1, GTF2H3, GTF2H4, CCAR2, CCT2, CDK2, HIST1H1A, POLR2A, ANXA2, ERCC2, THRA, TAF7, CDK9, SMAD1, CTDP1, PRKCI, ARRB2, POLR2B, CDK6, GTF2E1, BRCA1, CDK7, UBE2D1, APP, GTF2E2, CCNA2, HSP90AA1, UVSSA, CDK1, CCNB1, MBP, HLA-DQA1, HSD17B4, ATP2B4, A2M, SRPK2, SRPK1, RPA3, RPA2, RPA1, HSP90AB4P, HSP90AB3P, HSP90AA5P, HSP90AA4P, FKBP5, CDK20, CALCOCO2, EEF1A2, TBC1D32, DHX38, PI4KB, MPLKIP, CCNE1, CCNB2, HNRNPF, ZBED1, GTF2H2C_2, CDKN1B, CCND2, UBC | RIN3 | RAB5B, RAB5A, BIN1, RABAC1, RGS2, TNFAIP1, MYC, ASB8, DOK3, FAM127C, MPEG1, PLB1, SPATA12, SPRY4, TM4SF19, TSSK3, ASB3, CRK, CRKL, CSRP3, CYP2C8, CYP46A1, EPS8L2, EZH2, FAM46A, GATA1, GRAP2, ID2, KCTD17, LCK, MT2A, POLR3F, PSMD9, SUV39H1, SYMPK, TGM1, TSC1, ZBTB24, ZNF639, ZNF655, ZNF71 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CDK7_RIN3 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CDK7_RIN3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | RIN3 | C0029401 | Osteitis Deformans | 1 | CTD_human |