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Fusion gene ID: 7312 |
FusionGeneSummary for CLCF1_PPP1CA |
Fusion gene summary |
Fusion gene information | Fusion gene name: CLCF1_PPP1CA | Fusion gene ID: 7312 | Hgene | Tgene | Gene symbol | CLCF1 | PPP1CA | Gene ID | 23529 | 5499 |
Gene name | cardiotrophin like cytokine factor 1 | protein phosphatase 1 catalytic subunit alpha | |
Synonyms | BSF-3|BSF3|CISS2|CLC|NNT-1|NNT1|NR6 | PP-1A|PP1A|PP1alpha|PPP1A | |
Cytomap | 11q13.2 | 11q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | cardiotrophin-like cytokine factor 1B-cell stimulatory factor 3B-cell-stimulating factor 3CRLF1 associated cytokine-like factor 1neurotrophin-1/B-cell stimulating factor-3novel neurotrophin-1 | serine/threonine-protein phosphatase PP1-alpha catalytic subunitprotein phosphatase 1, catalytic subunit, alpha isoformprotein phosphatase 1, catalytic subunit, alpha isozymeserine/threonine protein phosphatase PP1-alpha 1 catalytic subunittesticular | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q9UBD9 | P62136 | |
Ensembl transtripts involved in fusion gene | ENST00000312438, ENST00000533438, ENST00000528474, | ENST00000312989, ENST00000532446, ENST00000376745, ENST00000358239, | |
Fusion gene scores | * DoF score | 1 X 1 X 2=2 | 3 X 2 X 4=24 |
# samples | 2 | 4 | |
** MAII score | log2(2/2*10)=3.32192809488736 | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CLCF1 [Title/Abstract] AND PPP1CA [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 | CLCF1 | GO:0008284 | positive regulation of cell proliferation | 10966616|11285233 |
Hgene | CLCF1 | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein | 10966616|11285233 |
Hgene | CLCF1 | GO:0043524 | negative regulation of neuron apoptotic process | 10966616|11285233 |
Tgene | PPP1CA | GO:0016311 | dephosphorylation | 22311981 |
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 | KIRP | TCGA-BQ-5890-01A | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
TCGA | RV | LUSC | TCGA-NC-A5HK-01A | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
* 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 | ENST00000312438 | ENST00000312989 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
5CDS-5UTR | ENST00000312438 | ENST00000532446 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
5CDS-5UTR | ENST00000312438 | ENST00000376745 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
5CDS-intron | ENST00000312438 | ENST00000358239 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
intron-3CDS | ENST00000533438 | ENST00000312989 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
intron-5UTR | ENST00000533438 | ENST00000532446 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
intron-5UTR | ENST00000533438 | ENST00000376745 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
intron-intron | ENST00000533438 | ENST00000358239 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
intron-3CDS | ENST00000528474 | ENST00000312989 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
intron-5UTR | ENST00000528474 | ENST00000532446 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
intron-5UTR | ENST00000528474 | ENST00000376745 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
intron-intron | ENST00000528474 | ENST00000358239 | CLCF1 | chr11 | 67140995 | - | PPP1CA | chr11 | 67168670 | - |
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FusionProtFeatures for CLCF1_PPP1CA |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CLCF1 | PPP1CA |
Cytokine with B-cell stimulating capability. Binds toand activates the ILST/gp130 receptor.{ECO:0000269|PubMed:10448081, ECO:0000269|PubMed:10500198}. | Protein phosphatase that associates with over 200regulatory proteins to form highly specific holoenzymes whichdephosphorylate hundreds of biological targets. Proteinphosphatase 1 (PP1) is essential for cell division, andparticipates in the regulation of glycogen metabolism, musclecontractility and protein synthesis. Involved in regulation ofionic conductances and long-term synaptic plasticity. May play animportant role in dephosphorylating substrates such as thepostsynaptic density-associated Ca(2+)/calmodulin dependentprotein kinase II. Component of the PTW/PP1 phosphatase complex,which plays a role in the control of chromatin structure and cellcycle progression during the transition from mitosis intointerphase. Regulates NEK2 function in terms of kinase activityand centrosome number and splitting, both in the presence andabsence of radiation-induced DNA damage. Regulator of neural tubeand optic fissure closure, and enteric neural crest cell (ENCCs)migration during development. In balance with CSNK1D and CSNK1E,determines the circadian period length, through the regulation ofthe speed and rhythmicity of PER1 and PER2 phosphorylation. Maydephosphorylate CSNK1D and CSNK1E. Dephosphorylates the 'Ser-418'residue of FOXP3 in regulatory T-cells (Treg) from patients withrheumatoid arthritis, thereby inactivating FOXP3 and renderingTreg cells functionally defective (PubMed:23396208).Dephosphorylates CENPA (PubMed:25556658). Dephosphorylates the'Ser-139' residue of ATG16L1 causing dissociation of ATG12-ATG5-ATG16L1 complex, thereby inhibiting autophagy (PubMed:26083323).{ECO:0000269|PubMed:17283141, ECO:0000269|PubMed:21712997,ECO:0000269|PubMed:23396208, ECO:0000269|PubMed:25556658,ECO:0000269|PubMed:26083323}. |
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 CLCF1_PPP1CA |
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 CLCF1_PPP1CA |
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 |
CLCF1 | CNTFR, CRLF1, PARK7 | PPP1CA | PHACTR3, PHACTR1, ACTA1, EED, PPP1R8, PPP1R15A, AKAP11, GSK3B, SMARCB1, PPP1R9B, RYR2, EIF2AK2, KCNQ1, BCL2L1, BCL2L2, HSPA8, PPP1R10, NOC2L, RRP1B, HCFC1, LMTK2, CDC5L, BRCA1, RUVBL2, RPAP2, RPAP3, NCOR1, IKBKB, CUEDC2, CCDC6, CREB1, TRIM28, WDR82, TOX4, MYC, HDAC5, STAU1, NONO, SFPQ, AATK, CSRNP1, C1QA, CNST, TPRN, PPP1R18, TOR1AIP1, NEK2, PPP1R2, PPP1R3C, PPP1R3D, PPP1R3E, TP53BP2, PPP1R13B, PPP1R3G, PPP1R13L, PPP1R15B, PPP1R16A, RANBP9, RIF1, SH3RF2, WBP11, YLPM1, ZFYVE9, KANK1, BTBD10, CLCN2, CEP170, CLTC, CKB, CNP, CNTN1, CRK, CXXC1, DCTN1, DEAF1, FRMPD4, GLIPR1L2, GLTSCR2, IBTK, MIIP, JPH3, KCTD20, RPRD2, KIAA1377, LPIN2, MAFG, MAL2, MAP4K4, NDP, PHC1, PIAS1, PIAS3, PREX1, PRR16, SLC45A1, SNCAIP, SORL1, SPRED1, UBE2Z, ULK1, ZBTB11, ZNF827, SF3A2, SIRT7, TFG, ACTB, INA, PPP1R1B, ATM, AURKB, BCL2, PTK2, LBR, RB1, CDK1, CDK2, CDK4, CCNB1, CCND3, HSPA4, MAX, SKP1, STX1A, APAF1, CCNA1, PPP2R4, CDH1, PTEN, CUL1, BAD, WWTR1, CUL3, KIF13B, DCX, NCAM1, CAV1, AKT1, AURKA, PPP1CB, SRSF7, SRSF5, SRSF11, DDX1, SYNCRIP, VTN, OGT, SON, RPS24, TPBG, ZNF326, CHMP2A, SMARCA5, ESR1, ECT2, MDC1, MDM4, AXIN1, CSNK1E, PRKCB, TCTEX1D4, SFRP1, PPP1R32, FN1, VCAM1, CD2BP2, TOE1, GPKOW, GRB2, MPHOSPH10, PPP1R37, TP53, TUSC3, NOM1, PPP1R26, CCDC181, ZFYVE16, PPP1R3B, CASC5, KIF18A, STAM, CSRNP2, SYTL2, HEYL, PLCL2, ITGA4, PRKAR1A, MST1R, CTDP1, CHUK, TNFRSF1A, POLR2A, YAP1, MAT2B, PKM, ALDH7A1, ASNS, CAPNS1, STK24, TBCB, YWHAH, SCPEP1, TMOD3, XPO1, WWOX, HUWE1, PPP1R2P3, CUL7, OBSL1, CSNK2B, DEC1, RORC, CLOCK, PPP2R5E, ARNTL, PPP1R7, GPN3, PIH1D1, WDR92, PPP1CC, PDRG1, PPP1R9A, GYS2, GYS1, CDCA2, UXT, POLR3A, SCRIB, LRRC1, C12orf57, KIAA1279, MKI67, PEAK1, ERBB2IP, EIF2AK4, URI1, RUVBL1, SHOC2, NUP153, C20orf27, POLR2E, CCDC85C, RASSF8, GYG1, TANC2, PHACTR4, PPP1R11, CCDC85B, POLR3E, POLR3B, RASSF7, HOMEZ, SUPT6H, PPP1R3A, RASSF9, RASSF10, NTRK1, DPYSL2, HDAC1, HDAC6, HDAC3, NINL, CAPZA2, DBN1, FLNA, MYH9, MYO1C, IQGAP1, MATR3, MTX2, SYNPO, ASF1A, LIMA1, ANLN, MYO5C, MYO19, PARD6B, MYO18A, AR, MDM2, SKP2, SNW1, UBXN2B, UBXN2A, LATS1, PARD3, NFATC2, PTPN7, GSK3A, LEO1, PFDN2, PFDN6, RPL13, TERF2, PPP1R16B, SH2D4A, SFRP2, SFRP5, PAK1, PQBP1, PACS1, HSPA1L, DCAF7, MAPRE2, MAPRE1, PPP2R5C, PPP2R5D, DLD, HSD17B10, TRIM25, TES, NR3C2 |
- 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 CLCF1_PPP1CA |
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 CLCF1_PPP1CA |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CLCF1 | C1853198 | COLD-INDUCED SWEATING SYNDROME 2 | 1 | UNIPROT |