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Fusion gene ID: 19140 |
FusionGeneSummary for KMT2D_PTPRR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KMT2D_PTPRR | Fusion gene ID: 19140 | Hgene | Tgene | Gene symbol | KMT2D | PTPRR | Gene ID | 8085 | 5801 |
| Gene name | lysine methyltransferase 2D | protein tyrosine phosphatase, receptor type R | |
| Synonyms | AAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21 | EC-PTP|PCPTP1|PTP-SL|PTPBR7|PTPRQ | |
| Cytomap | 12q13.12 | 12q15 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-lysine N-methyltransferase 2DALL1-related proteinKabuki make-up syndromeKabuki mental retardation syndromehistone-lysine N-methyltransferase MLL2lysine (K)-specific methyltransferase 2Dlysine N-methyltransferase 2Dmyeloid/lymphoid or mixed- | receptor-type tyrosine-protein phosphatase RCh-1 PTPaseNC-PTPCOM1R-PTP-Rch-1PTPaseprotein tyrosine phosphatase Cr1PTPaseprotein-tyrosine phosphatase NC-PTPCOM1protein-tyrosine phosphatase PCPTP1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O14686 | Q15256 | |
| Ensembl transtripts involved in fusion gene | ENST00000301067, ENST00000549743, | ENST00000283228, ENST00000440835, ENST00000537619, ENST00000378778, ENST00000342084, ENST00000549308, | |
| Fusion gene scores | * DoF score | 9 X 9 X 5=405 | 33 X 13 X 10=4290 |
| # samples | 11 | 31 | |
| ** MAII score | log2(11/405*10)=-1.88041838424733 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(31/4290*10)=-3.79063752711267 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KMT2D [Title/Abstract] AND PTPRR [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 | KMT2D | GO:0043627 | response to estrogen | 16603732 |
| 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 | PAAD | TCGA-2J-AAB4-01A | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| * 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 |
| intron-3CDS | ENST00000301067 | ENST00000283228 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000301067 | ENST00000440835 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000301067 | ENST00000537619 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000301067 | ENST00000378778 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000301067 | ENST00000342084 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000301067 | ENST00000549308 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-3CDS | ENST00000549743 | ENST00000283228 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000549743 | ENST00000440835 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000549743 | ENST00000537619 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000549743 | ENST00000378778 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000549743 | ENST00000342084 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
| intron-intron | ENST00000549743 | ENST00000549308 | KMT2D | chr12 | 49453396 | - | PTPRR | chr12 | 71158558 | - |
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FusionProtFeatures for KMT2D_PTPRR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KMT2D | PTPRR |
| Histone methyltransferase. Methylates 'Lys-4' of histoneH3 (H3K4me). H3K4me represents a specific tag for epigenetictranscriptional activation. Acts as a coactivator for estrogenreceptor by being recruited by ESR1, thereby activatingtranscription. {ECO:0000269|PubMed:16603732,ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:17851529}. | Sequesters mitogen-activated protein kinases (MAPKs)such as MAPK1, MAPK3 and MAPK14 in the cytoplasm in an inactiveform. The MAPKs bind to a dephosphorylated kinase interactingmotif, phosphorylation of which by the protein kinase A complexreleases the MAPKs for activation and translocation into thenucleus (By similarity). {ECO:0000250}. |
| 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 KMT2D_PTPRR |
| 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 KMT2D_PTPRR |
| 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 |
| KMT2D | CXXC1, KDM6A, CTNNB1, E2F5, E2F6, E2F3, E2F2, POLR2A, SRRM1, WDR5, RBBP5, MEF2D, PAXIP1, ASH2L, WDR82, PYGO2, ESR1, KDM4B, HIST2H3C, MEN1, MAX, SMAD9, SMAD1, SENP3, UBAC2, EEF1B2, HERC2, PPP1R21, RBM45, FOXK2, CHEK2, EYA2, NR3C1, AR, AKT1 | PTPRR | MAPK1, MAPK3, MAPK7, MAPK14, NTRK1, CEP290, EGFR, ERBB2, IGF1R, RET, MST1R, ERBB4, FGFR2, FGFR4, KDR, TEK, INSR, ALDH18A1, DHPS, PNMA2, TRIM11, KIAA0196, TBC1D5, DNAJC13, SNX6, PTPRR, MAPK1IP1L, MAPKAPK3, MAD2L1BP, CBS, MAPK11, CCT8L1P, HSPA4L, LMTK2, AATK, ERBB3, RYK, ROR1, ROR2, PTK7, EPHA2 |
| - 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 KMT2D_PTPRR |
| 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 KMT2D_PTPRR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KMT2D | C0796004 | Kabuki make-up syndrome | 5 | CTD_human;ORPHANET;UNIPROT |
| Hgene | KMT2D | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | KMT2D | C0010701 | Phyllodes Tumor | 1 | CTD_human |
| Hgene | KMT2D | C0021364 | Male infertility | 1 | CTD_human |
| Hgene | KMT2D | C0024301 | Lymphoma, Follicular | 1 | CTD_human |
| Hgene | KMT2D | C0036920 | Sezary Syndrome | 1 | CTD_human |
| Hgene | KMT2D | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Hgene | KMT2D | C0079772 | T-Cell Lymphoma | 1 | CTD_human |
| Hgene | KMT2D | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | KMT2D | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | PTPRR | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | PTPRR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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