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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 13503

FusionGeneSummary for FKBP1A_CTDP1

check button Fusion gene summary
Fusion gene informationFusion gene name: FKBP1A_CTDP1
Fusion gene ID: 13503
HgeneTgene
Gene symbol

FKBP1A

CTDP1

Gene ID

2280

9150

Gene nameFK506 binding protein 1ACTD phosphatase subunit 1
SynonymsFKBP-12|FKBP-1A|FKBP1|FKBP12|PKC12|PKCI2|PPIASECCFDN|FCP1
Cytomap

20p13

18q23

Type of geneprotein-codingprotein-coding
Descriptionpeptidyl-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 FKBP1AcaRNA 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 date2018052320180523
UniProtAcc

P62942

Q9Y5B0

Ensembl transtripts involved in fusion geneENST00000400137, ENST00000381724, 
ENST00000460490, ENST00000381719, 
ENST00000381715, ENST00000439640, 
ENST00000299543, ENST00000075430, 
ENST00000587623, 
Fusion gene scores* DoF score2 X 1 X 2=43 X 2 X 3=18
# samples 24
** MAII scorelog2(2/4*10)=2.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFKBP1A

GO:0000413

protein peptidyl-prolyl isomerization

1696686

HgeneFKBP1A

GO:0007183

SMAD protein complex assembly

16720724

HgeneFKBP1A

GO:0031398

positive regulation of protein ubiquitination

16720724

HgeneFKBP1A

GO:0032092

positive regulation of protein binding

18346205

HgeneFKBP1A

GO:0032515

negative regulation of phosphoprotein phosphatase activity

7592869

HgeneFKBP1A

GO:0032925

regulation of activin receptor signaling pathway

16720724

HgeneFKBP1A

GO:0051280

negative regulation of release of sequestered calcium ion into cytosol

12443530

HgeneFKBP1A

GO:0060314

regulation of ryanodine-sensitive calcium-release channel activity

7592869

HgeneFKBP1A

GO:0060315

negative regulation of ryanodine-sensitive calcium-release channel activity

12443530

HgeneFKBP1A

GO:0097435

supramolecular fiber organization

18346205

HgeneFKBP1A

GO:1990000

amyloid fibril formation

18346205

TgeneCTDP1

GO:0006470

protein dephosphorylation

9765293|22692537

TgeneCTDP1

GO:0043923

positive regulation by host of viral transcription

15723517


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDPRADTCGA-VP-A87D-01AFKBP1Achr20

1373478

-CTDP1chr18

77455225

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000400137ENST00000299543FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
Frame-shitENST00000400137ENST00000075430FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
5CDS-intronENST00000400137ENST00000587623FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
Frame-shitENST00000381724ENST00000299543FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
Frame-shitENST00000381724ENST00000075430FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
5CDS-intronENST00000381724ENST00000587623FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
intron-3CDSENST00000460490ENST00000299543FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
intron-3CDSENST00000460490ENST00000075430FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
intron-intronENST00000460490ENST00000587623FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
Frame-shitENST00000381719ENST00000299543FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
Frame-shitENST00000381719ENST00000075430FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
5CDS-intronENST00000381719ENST00000587623FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
Frame-shitENST00000381715ENST00000299543FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
Frame-shitENST00000381715ENST00000075430FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
5CDS-intronENST00000381715ENST00000587623FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
intron-3CDSENST00000439640ENST00000299543FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
intron-3CDSENST00000439640ENST00000075430FKBP1Achr20

1373478

-CTDP1chr18

77455225

+
intron-intronENST00000439640ENST00000587623FKBP1Achr20

1373478

-CTDP1chr18

77455225

+

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FusionProtFeatures for FKBP1A_CTDP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FKBP1A

P62942

CTDP1

Q9Y5B0

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for FKBP1A_CTDP1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
FKBP1ATGFBR1, 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, MDM2CTDP1POLR2A, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for FKBP1A_CTDP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFKBP1AP62942DB00337PimecrolimusPeptidyl-prolyl cis-trans isomerase FKBP1Asmall moleculeapproved|investigational
HgeneFKBP1AP62942DB00864TacrolimusPeptidyl-prolyl cis-trans isomerase FKBP1Asmall moleculeapproved|investigational
HgeneFKBP1AP62942DB00877SirolimusPeptidyl-prolyl cis-trans isomerase FKBP1Asmall moleculeapproved|investigational

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RelatedDiseases for FKBP1A_CTDP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFKBP1AC0005586Bipolar Disorder1PSYGENET
HgeneFKBP1AC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneFKBP1AC0279626Squamous cell carcinoma of esophagus1CTD_human