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Fusion gene ID: 4834 |
FusionGeneSummary for C1S_PTPRO |
Fusion gene summary |
Fusion gene information | Fusion gene name: C1S_PTPRO | Fusion gene ID: 4834 | Hgene | Tgene | Gene symbol | C1S | PTPRO | Gene ID | 716 | 10076 |
Gene name | complement C1s | protein tyrosine phosphatase, receptor type U | |
Synonyms | EDSPD2 | FMI|PCP-2|PTP|PTP-J|PTP-PI|PTP-RO|PTPPSI|PTPRO|PTPU2|R-PTP-PSI|R-PTP-U|hPTP-J | |
Cytomap | 12p13.31 | 1p35.3 | |
Type of gene | protein-coding | protein-coding | |
Description | complement C1s subcomponentC1 esterasebasic proline-rich peptide IB-1complement component 1 subcomponent scomplement component 1, s subcomponent | receptor-type tyrosine-protein phosphatase UPTP piReceptor protein tyrosine phosphatase hPTP-Jpancreatic carcinoma phosphatase 2pi R-PTP-Psiprotein-tyrosine phosphatase Jprotein-tyrosine phosphatase piprotein-tyrosine phosphatase receptor omicronr | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | P09871 | Q16827 | |
Ensembl transtripts involved in fusion gene | ENST00000406697, ENST00000328916, ENST00000360817, ENST00000402681, ENST00000495061, | ENST00000281171, ENST00000348962, ENST00000542557, ENST00000544244, ENST00000445537, ENST00000442921, ENST00000543886, ENST00000544706, | |
Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 5 X 5 X 5=125 |
# samples | 7 | 5 | |
** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/125*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: C1S [Title/Abstract] AND PTPRO [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 |
Tgene | PTPRO | GO:0006470 | protein dephosphorylation | 12501215 |
Tgene | PTPRO | GO:0008285 | negative regulation of cell proliferation | 16574648 |
Tgene | PTPRO | GO:0030336 | negative regulation of cell migration | 12501215|16574648 |
Tgene | PTPRO | GO:0034394 | protein localization to cell surface | 16574648 |
Tgene | PTPRO | GO:0060070 | canonical Wnt signaling pathway | 16574648 |
Tgene | PTPRO | GO:0098609 | cell-cell adhesion | 16574648 |
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 | HNSC | TCGA-D6-A4ZB-01A | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
* 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 |
5CDS-intron | ENST00000406697 | ENST00000281171 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000406697 | ENST00000348962 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000406697 | ENST00000542557 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000406697 | ENST00000544244 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000406697 | ENST00000445537 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000406697 | ENST00000442921 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000406697 | ENST00000543886 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000406697 | ENST00000544706 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000328916 | ENST00000281171 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000328916 | ENST00000348962 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000328916 | ENST00000542557 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000328916 | ENST00000544244 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000328916 | ENST00000445537 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000328916 | ENST00000442921 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000328916 | ENST00000543886 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000328916 | ENST00000544706 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000360817 | ENST00000281171 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000360817 | ENST00000348962 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000360817 | ENST00000542557 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000360817 | ENST00000544244 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000360817 | ENST00000445537 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000360817 | ENST00000442921 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000360817 | ENST00000543886 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5CDS-intron | ENST00000360817 | ENST00000544706 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5UTR-intron | ENST00000402681 | ENST00000281171 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5UTR-intron | ENST00000402681 | ENST00000348962 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5UTR-intron | ENST00000402681 | ENST00000542557 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5UTR-intron | ENST00000402681 | ENST00000544244 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5UTR-intron | ENST00000402681 | ENST00000445537 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5UTR-intron | ENST00000402681 | ENST00000442921 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5UTR-intron | ENST00000402681 | ENST00000543886 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
5UTR-intron | ENST00000402681 | ENST00000544706 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
intron-intron | ENST00000495061 | ENST00000281171 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
intron-intron | ENST00000495061 | ENST00000348962 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
intron-intron | ENST00000495061 | ENST00000542557 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
intron-intron | ENST00000495061 | ENST00000544244 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
intron-intron | ENST00000495061 | ENST00000445537 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
intron-intron | ENST00000495061 | ENST00000442921 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
intron-intron | ENST00000495061 | ENST00000543886 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
intron-intron | ENST00000495061 | ENST00000544706 | C1S | chr12 | 7170371 | + | PTPRO | chr12 | 15563214 | + |
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FusionProtFeatures for C1S_PTPRO |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
C1S | PTPRO |
Possesses tyrosine phosphatase activity. Plays a role inregulating the glomerular pressure/filtration rate relationshipthrough an effect on podocyte structure and function (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:19167335}. |
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 C1S_PTPRO |
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 C1S_PTPRO |
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 |
C1S | SERPING1, C1R, C1QA, VKORC1, FN1, CCDC6, PPP4R1 | PTPRO | KIT, YWHAZ, SH3GL3, DPYSL4, DPPA4, SH3GL1, APP, VCP, VIL1, SPTA1, SYK, PTPRO, SDF2, ERLEC1, NGLY1, SDF2L1, DNAJC30, GOLIM4, TMEM246, LGALS3, TXNDC12, PDIA4, PDIA3, SEL1L, CALR, OS9, PPIB, ERP44, GPX8, B3GAT3, SIL1, CNIH4, SPCS3, DNAJB11, HYOU1, TMX1, RAB29, TMED2, UGGT1, GANAB, P4HB, NOMO1, SEP15, TMX4, UBE2G2, PDIA6, MAN1B1, NUP210L, CYP51A1, PRKCSH, HLA-C, HLA-G, MAD2L1BP, CANX, DNAJC16, RAB34, SEC61A2, AUP1, DNAJB12, PGRMC1, SDF4, C2orf47, ATP6AP1, CLN6, FKBP10, HLA-H, LMAN1, MAN1A2, SRPRB, HLA-B, ARL1, TMED10, CNNM4, HLA-A |
- 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 C1S_PTPRO |
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 | C1S | P09871 | DB00002 | Cetuximab | Complement C1s subcomponent | biotech | approved |
Hgene | C1S | P09871 | DB00051 | Adalimumab | Complement C1s subcomponent | biotech | approved |
Hgene | C1S | P09871 | DB00054 | Abciximab | Complement C1s subcomponent | biotech | approved |
Hgene | C1S | P09871 | DB00073 | Rituximab | Complement C1s subcomponent | biotech | approved |
Hgene | C1S | P09871 | DB06404 | Human C1-esterase inhibitor | Complement C1s subcomponent | biotech | approved |
Hgene | C1S | P09871 | DB00005 | Etanercept | Complement C1s subcomponent | biotech | approved|investigational |
Hgene | C1S | P09871 | DB00056 | Gemtuzumab ozogamicin | Complement C1s subcomponent | biotech | approved|investigational |
Hgene | C1S | P09871 | DB00072 | Trastuzumab | Complement C1s subcomponent | biotech | approved|investigational |
Hgene | C1S | P09871 | DB00074 | Basiliximab | Complement C1s subcomponent | biotech | approved|investigational |
Hgene | C1S | P09871 | DB00075 | Muromonab | Complement C1s subcomponent | biotech | approved|investigational |
Hgene | C1S | P09871 | DB00078 | Ibritumomab tiuxetan | Complement C1s subcomponent | biotech | approved|investigational |
Hgene | C1S | P09871 | DB01593 | Zinc | Complement C1s subcomponent | small molecule | approved|investigational |
Hgene | C1S | P09871 | DB09228 | Conestat alfa | Complement C1s subcomponent | biotech | approved|investigational |
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RelatedDiseases for C1S_PTPRO |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | C1S | C0004364 | Autoimmune Diseases | 1 | CTD_human |
Hgene | C1S | C0241910 | Hepatitis, Autoimmune | 1 | CTD_human |
Hgene | C1S | C0677607 | Hashimoto Disease | 1 | CTD_human;HPO |
Hgene | C1S | C2717905 | Hereditary Angioedema Types I and II | 1 | CTD_human |
Tgene | PTPRO | C0023903 | Liver neoplasms | 2 | CTD_human |
Tgene | PTPRO | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | PTPRO | C0025202 | melanoma | 1 | CTD_human |