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Fusion gene ID: 28319 |
FusionGeneSummary for PPP1R12C_PTPRH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP1R12C_PTPRH | Fusion gene ID: 28319 | Hgene | Tgene | Gene symbol | PPP1R12C | PTPRH | Gene ID | 54776 | 5794 |
| Gene name | protein phosphatase 1 regulatory subunit 12C | protein tyrosine phosphatase, receptor type H | |
| Synonyms | AAVS1|LENG3|MBS85|p84|p85 | R-PTP-H|SAP1 | |
| Cytomap | 19q13.42 | 19q13.42 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein phosphatase 1 regulatory subunit 12Cleukocyte receptor cluster (LRC) encoded novel gene 3leukocyte receptor cluster (LRC) member 3myosin-binding subunit 85protein phosphatase 1 myosin-binding subunit of 85 kDaprotein phosphatase 1 myosin-bind | receptor-type tyrosine-protein phosphatase Hstomach cancer-associated protein tyrosine phosphatase 1transmembrane-type protein-tyrosine phosphatase type H | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9BZL4 | Q9HD43 | |
| Ensembl transtripts involved in fusion gene | ENST00000263433, ENST00000376393, ENST00000435544, | ENST00000263434, ENST00000376350, ENST00000588559, | |
| Fusion gene scores | * DoF score | 6 X 4 X 4=96 | 3 X 2 X 2=12 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/96*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PPP1R12C [Title/Abstract] AND PTPRH [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 |
| 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 | STAD | TCGA-BR-8059-01A | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
| * 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 | ENST00000263433 | ENST00000263434 | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
| Frame-shift | ENST00000263433 | ENST00000376350 | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
| 5CDS-intron | ENST00000263433 | ENST00000588559 | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
| Frame-shift | ENST00000376393 | ENST00000263434 | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
| Frame-shift | ENST00000376393 | ENST00000376350 | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
| 5CDS-intron | ENST00000376393 | ENST00000588559 | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
| Frame-shift | ENST00000435544 | ENST00000263434 | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
| Frame-shift | ENST00000435544 | ENST00000376350 | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
| 5CDS-intron | ENST00000435544 | ENST00000588559 | PPP1R12C | chr19 | 55623835 | - | PTPRH | chr19 | 55693519 | - |
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FusionProtFeatures for PPP1R12C_PTPRH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP1R12C | PTPRH |
| Regulates myosin phosphatase activity.{ECO:0000269|PubMed:11399775}. | Protein phosphatase that may contribute to contactinhibition of cell growth and motility by mediating thedephosphorylation of focal adhesion-associated substrates and thusnegatively regulating integrin-promoted signaling processes.Induces apoptotic cell death by at least two distinct mechanisms:inhibition of cell survival signaling mediated by PI 3-kinase,Akt, and ILK and activation of a caspase-dependent proapoptoticpathway. Inhibits the basal activity of LCK and its activation inresponse to TCR stimulation and TCR-induced activation of MAPkinase and surface expression of CD69. Inhibits TCR-inducedtyrosine phosphorylation of LAT and ZAP70. Inhibits both basalactivity of DOK1 and its CD2-induced tyrosine phosphorylation.Induces dephosphorylation of BCAR1, focal adhesion kinase and SRC.Reduces migratory activity of activity of Jurkat cells. Reducestyrosine phosphorylation of CEACAM20 and thereby contributes tosuppress the intestinal immune response CEACAM20 (By similarity).{ECO:0000250|UniProtKB:E9Q0N2, ECO:0000269|PubMed:11278335,ECO:0000269|PubMed:12101188, ECO:0000269|PubMed:12837766,ECO:0000269|PubMed:15850787}. |
| 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 PPP1R12C_PTPRH |
| 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 PPP1R12C_PTPRH |
| 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 |
| PPP1R12C | MPRIP, IL16, PAFAH1B2, ATXN7, CACNA1A, SMAD3, NUAK1, PPP1R12C, C1orf109, RBM17, COL9A1, PPP1CB, L1TD1, JPH4 | PTPRH | BCAR1, PXN, GHR, MLH1, DHPS, KRTAP10-8, KRTAP10-3, EGFR, ERBB3, ERBB4, ERBB2, LRP6, EXOC3, RAB11FIP5, C1orf226, RALGAPA1, ARL13B, NBEA, NOS1AP, RAB11FIP1, RALGAPB, RICTOR |
| - 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 PPP1R12C_PTPRH |
| 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 PPP1R12C_PTPRH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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