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Fusion gene ID: 13503 |
FusionGeneSummary for FKBP1A_CTDP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FKBP1A_CTDP1 | Fusion gene ID: 13503 | Hgene | Tgene | Gene symbol | FKBP1A | CTDP1 | Gene ID | 2280 | 9150 |
| Gene name | FK506 binding protein 1A | CTD phosphatase subunit 1 | |
| Synonyms | FKBP-12|FKBP-1A|FKBP1|FKBP12|PKC12|PKCI2|PPIASE | CCFDN|FCP1 | |
| Cytomap | 20p13 | 18q23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | peptidyl-prolyl cis-trans isomerase FKBP1A12 kDa FK506-binding protein12 kDa FKBPFK506 binding protein 1A, 12kDaFK506 binding protein12FK506-binding protein 1FK506-binding protein 12FK506-binding protein, T-cell, 12-kDFKBP12-Exip3PPIase FKBP1Aca | RNA polymerase II subunit A C-terminal domain phosphataseCTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1CTD of POLR2A, phosphatase of, subunit 1TFIIF-associating CTD phosphatase 1serine phosphatase FCP1atranscri | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P62942 | Q9Y5B0 | |
| Ensembl transtripts involved in fusion gene | ENST00000400137, ENST00000381724, ENST00000460490, ENST00000381719, ENST00000381715, ENST00000439640, | ENST00000299543, ENST00000075430, ENST00000587623, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 3 X 2 X 3=18 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: FKBP1A [Title/Abstract] AND CTDP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | FKBP1A | GO:0000413 | protein peptidyl-prolyl isomerization | 1696686 |
| Hgene | FKBP1A | GO:0007183 | SMAD protein complex assembly | 16720724 |
| Hgene | FKBP1A | GO:0031398 | positive regulation of protein ubiquitination | 16720724 |
| Hgene | FKBP1A | GO:0032092 | positive regulation of protein binding | 18346205 |
| Hgene | FKBP1A | GO:0032515 | negative regulation of phosphoprotein phosphatase activity | 7592869 |
| Hgene | FKBP1A | GO:0032925 | regulation of activin receptor signaling pathway | 16720724 |
| Hgene | FKBP1A | GO:0051280 | negative regulation of release of sequestered calcium ion into cytosol | 12443530 |
| Hgene | FKBP1A | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | 7592869 |
| Hgene | FKBP1A | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 12443530 |
| Hgene | FKBP1A | GO:0097435 | supramolecular fiber organization | 18346205 |
| Hgene | FKBP1A | GO:1990000 | amyloid fibril formation | 18346205 |
| Tgene | CTDP1 | GO:0006470 | protein dephosphorylation | 9765293|22692537 |
| Tgene | CTDP1 | GO:0043923 | positive regulation by host of viral transcription | 15723517 |
| 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 | LD | PRAD | TCGA-VP-A87D-01A | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| * 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 | ENST00000400137 | ENST00000299543 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| Frame-shift | ENST00000400137 | ENST00000075430 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| 5CDS-intron | ENST00000400137 | ENST00000587623 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| Frame-shift | ENST00000381724 | ENST00000299543 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| Frame-shift | ENST00000381724 | ENST00000075430 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| 5CDS-intron | ENST00000381724 | ENST00000587623 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| intron-3CDS | ENST00000460490 | ENST00000299543 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| intron-3CDS | ENST00000460490 | ENST00000075430 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| intron-intron | ENST00000460490 | ENST00000587623 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| Frame-shift | ENST00000381719 | ENST00000299543 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| Frame-shift | ENST00000381719 | ENST00000075430 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| 5CDS-intron | ENST00000381719 | ENST00000587623 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| Frame-shift | ENST00000381715 | ENST00000299543 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| Frame-shift | ENST00000381715 | ENST00000075430 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| 5CDS-intron | ENST00000381715 | ENST00000587623 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| intron-3CDS | ENST00000439640 | ENST00000299543 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| intron-3CDS | ENST00000439640 | ENST00000075430 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
| intron-intron | ENST00000439640 | ENST00000587623 | FKBP1A | chr20 | 1373478 | - | CTDP1 | chr18 | 77455225 | + |
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FusionProtFeatures for FKBP1A_CTDP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FKBP1A | CTDP1 |
| Keeps in an inactive conformation TGFBR1, the TGF-betatype I serine/threonine kinase receptor, preventing TGF-betareceptor activation in absence of ligand. Recruits SMAD7 to ACVR1Bwhich prevents the association of SMAD2 and SMAD3 with the activinreceptor complex, thereby blocking the activin signal. Maymodulate the RYR1 calcium channel activity. PPIases accelerate thefolding of proteins. It catalyzes the cis-trans isomerization ofproline imidic peptide bonds in oligopeptides.{ECO:0000269|PubMed:16720724, ECO:0000269|PubMed:1696686,ECO:0000269|PubMed:1701173, ECO:0000269|PubMed:9233797}. | Processively dephosphorylates 'Ser-2' and 'Ser-5' of theheptad repeats YSPTSPS in the C-terminal domain of the largest RNApolymerase II subunit. This promotes the activity of RNApolymerase II. Plays a role in the exit from mitosis bydephosphorylating crucial mitotic substrates (USP44, CDC20 andWEE1) that are required for M-phase-promoting factor (MPF)/CDK1inactivation. {ECO:0000269|PubMed:22692537}. |
| 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 FKBP1A_CTDP1 |
| 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 FKBP1A_CTDP1 |
| 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 |
| FKBP1A | TGFBR1, YY1, MTOR, RPTOR, DHFR, RYR1, FKBP1A, RYR3, ITPR1, GLMN, BMPR1A, TGFB1, ACVR1B, SMAD7, ELAVL1, APP, ZPR1, BARD1, ACVRL1, BAG3, MID1, SF3B4, AHSP, CTBP1, AGL, ENO1, ENO2, ENO3, FABP3, FABP5, FKBP2, GPX4, GSTO2, HINT1, MSI2, NME1-NME2, NME2, PIN1, PPIB, RAE1, SOD1, TAGLN, TAGLN2, TAGLN3, UFC1, YKT6, GSTT1, HSD17B10, HSPE1, NMRAL1, PPIF, SMEK1, TXN, MED20, TOMM40, NAF1, MCM2, NLGN3, MDM2 | CTDP1 | POLR2A, GTF2F1, TCEA1, WDR77, CHD8, POLR2J, GTF2F2, GTF2B, POLR2B, STK38, ERH, PRMT5, INTS1, INTS3, INTS6, INTS7, INTS8, MED1, MED14, MED23, MED15, MED24, MED16, MED25, MED17, MED26, MED4, MED7, MED6, MED8, CDK9, CDK8, CDK7, PRKDC, ELP2, ELP3, GRK5, POLR2C, UPP1, PPP1CA, PPP2CA, RPRD1B, POLR2G, CSNK2A1, CSNK2A2, HMGB1, CSNK2B, ETS2, POLR2F, LTN1, IWS1, NUF2, DSN1, FBXW7 |
| - 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 FKBP1A_CTDP1 |
| 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 |
| Hgene | FKBP1A | P62942 | DB00337 | Pimecrolimus | Peptidyl-prolyl cis-trans isomerase FKBP1A | small molecule | approved|investigational |
| Hgene | FKBP1A | P62942 | DB00864 | Tacrolimus | Peptidyl-prolyl cis-trans isomerase FKBP1A | small molecule | approved|investigational |
| Hgene | FKBP1A | P62942 | DB00877 | Sirolimus | Peptidyl-prolyl cis-trans isomerase FKBP1A | small molecule | approved|investigational |
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RelatedDiseases for FKBP1A_CTDP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FKBP1A | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | FKBP1A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | FKBP1A | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
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