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Fusion gene ID: 28303 |
FusionGeneSummary for PPP1R12A_NDUFAF2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP1R12A_NDUFAF2 | Fusion gene ID: 28303 | Hgene | Tgene | Gene symbol | PPP1R12A | NDUFAF2 | Gene ID | 4659 | 91942 |
| Gene name | protein phosphatase 1 regulatory subunit 12A | NADH:ubiquinone oxidoreductase complex assembly factor 2 | |
| Synonyms | M130|MBS|MYPT1 | B17.2L|MMTN|NDUFA12L|mimitin | |
| Cytomap | 12q21.2-q21.31 | 5q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein phosphatase 1 regulatory subunit 12Amyosin binding subunitmyosin phosphatase, target subunit 1myosin phosphatase-targeting subunit 1protein phosphatase 1, regulatory (inhibitor) subunit 12Aprotein phosphatase myosin-binding subunit | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2Myc-induced mitochondrial proteinNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2NADH dehydrogenase (ubiquinone) complex I, assembly factor 2NADH dehydrogenase 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O14974 | Q8N183 | |
| Ensembl transtripts involved in fusion gene | ENST00000261207, ENST00000450142, ENST00000437004, ENST00000546369, ENST00000550107, | ENST00000296597, ENST00000511107, ENST00000512623, | |
| Fusion gene scores | * DoF score | 13 X 7 X 8=728 | 6 X 4 X 3=72 |
| # samples | 13 | 6 | |
| ** MAII score | log2(13/728*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PPP1R12A [Title/Abstract] AND NDUFAF2 [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 | PPP1R12A | GO:0030155 | regulation of cell adhesion | 20354225 |
| Hgene | PPP1R12A | GO:0035507 | regulation of myosin-light-chain-phosphatase activity | 20354225 |
| Hgene | PPP1R12A | GO:0043086 | negative regulation of catalytic activity | 19245366 |
| Hgene | PPP1R12A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19245366 |
| 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 | BRCA | TCGA-A8-A08F-01A | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| * 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 | ENST00000261207 | ENST00000296597 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-intron | ENST00000261207 | ENST00000511107 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-3UTR | ENST00000261207 | ENST00000512623 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| Frame-shift | ENST00000450142 | ENST00000296597 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-intron | ENST00000450142 | ENST00000511107 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-3UTR | ENST00000450142 | ENST00000512623 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| Frame-shift | ENST00000437004 | ENST00000296597 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-intron | ENST00000437004 | ENST00000511107 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-3UTR | ENST00000437004 | ENST00000512623 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| In-frame | ENST00000546369 | ENST00000296597 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-intron | ENST00000546369 | ENST00000511107 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-3UTR | ENST00000546369 | ENST00000512623 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| Frame-shift | ENST00000550107 | ENST00000296597 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-intron | ENST00000550107 | ENST00000511107 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
| 5CDS-3UTR | ENST00000550107 | ENST00000512623 | PPP1R12A | chr12 | 80226112 | - | NDUFAF2 | chr5 | 60368952 | + |
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FusionProtFeatures for PPP1R12A_NDUFAF2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP1R12A | NDUFAF2 |
| Key regulator of protein phosphatase 1C (PPP1C).Mediates binding to myosin. As part of the PPP1C complex, involvedin dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity.{ECO:0000269|PubMed:18477460, ECO:0000269|PubMed:19245366,ECO:0000269|PubMed:20354225}. | Acts as a molecular chaperone for mitochondrial complexI assembly (PubMed:16200211). Complex I functions in the transferof electrons from NADH to the respiratory chain. The immediateelectron acceptor for the enzyme is believed to be ubiquinone(PubMed:16200211, PubMed:27626371). {ECO:0000269|PubMed:16200211,ECO:0000269|PubMed:27626371}. |
| 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 PPP1R12A_NDUFAF2 |
| 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. |
| >In-frame_PPP1R12A_ENST00000546369_chr12_80226112_-_NDUFAF2_ENST00000296597_chr5_60368952_+_256aa MVKFLVENGANINQPDNEGWIPLHAAASCGYLDIAEFLIGQGAHVGAVNSEGDTPLDIAEEEAMEELLQNEVNRQGVDIEAARKEEERIM LRDARQWLNSGHINDVRHAKSGGTALHVAAAKGYTEVLKTNYSREKNCRSSKXKRSRLXSRGYSNRMGSLDXKNKKDSTYYGGNTKEXKT |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PPP1R12A_ENST00000546369_chr12_80226112_-_NDUFAF2_ENST00000296597_chr5_60368952_+_769nt ATGGTGAAGTTTCTGGTAGAAAATGGAGCAAATATTAATCAACCTGATAATGAAGGCTGGATACCACTACATGCAGCAGCTTCCTGTGGA TATCTTGATATTGCAGAGTTTTTGATTGGTCAAGGAGCACATGTAGGGGCTGTCAACAGTGAAGGAGATACACCTTTAGATATTGCGGAG GAGGAGGCAATGGAAGAGCTACTTCAAAATGAAGTTAATCGGCAAGGGGTTGATATAGAAGCAGCTCGAAAGGAAGAAGAACGGATCATG CTTAGAGATGCCAGGCAGTGGCTAAATAGTGGTCATATAAATGATGTCCGGCATGCAAAATCTGGAGGTACAGCACTTCACGTTGCAGCT GCTAAAGGCTATACGGAAGTTTTAAAGACAAACTATTCGAGAGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAAGC AGGGGATATTCCAACAGAATGGGAAGCTTGGATTAGAAGAACAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAACA CAGAGAAGAAATCAAAATAAAAAGCCAAGATTTTTATGAAAAAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCACC AGTTCAAACTCAAATTAAAGGCCATGCCTCTGCTCCATACTTTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACCTT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PPP1R12A_ENST00000546369_chr12_80226112_-_NDUFAF2_ENST00000296597_chr5_60368952_+_979nt ATCATATGCTTGTAAGAGAATGAGAGTATTAACCTTGTAGACTTCTGTAAGGGGCTAAGAGAAACACTGAGCTAAATAATTGAGGGGATA TACTATGTTCATGGCTTGAAAGACTGCTTGCATTGATGACAATGTTGATATGGTGAAGTTTCTGGTAGAAAATGGAGCAAATATTAATCA ACCTGATAATGAAGGCTGGATACCACTACATGCAGCAGCTTCCTGTGGATATCTTGATATTGCAGAGTTTTTGATTGGTCAAGGAGCACA TGTAGGGGCTGTCAACAGTGAAGGAGATACACCTTTAGATATTGCGGAGGAGGAGGCAATGGAAGAGCTACTTCAAAATGAAGTTAATCG GCAAGGGGTTGATATAGAAGCAGCTCGAAAGGAAGAAGAACGGATCATGCTTAGAGATGCCAGGCAGTGGCTAAATAGTGGTCATATAAA TGATGTCCGGCATGCAAAATCTGGAGGTACAGCACTTCACGTTGCAGCTGCTAAAGGCTATACGGAAGTTTTAAAGACAAACTATTCGAG AGAAAAGAATTGTAGAAGCAGCAAATAAAAAAGAAGTAGACTATGAAGCAGGGGATATTCCAACAGAATGGGAAGCTTGGATTAGAAGAA CAAGAAAGACTCCACCTACTATGGAGGAAATACTAAAGAATGAAAAACACAGAGAAGAAATCAAAATAAAAAGCCAAGATTTTTATGAAA AAGAAAAACTCCTTAGTAAAGAGACCAGTGAGGAACTCCTGCCTCCACCAGTTCAAACTCAAATTAAAGGCCATGCCTCTGCTCCATACT TTGGAAAGGAAGAACCCTCAGTGGCTCCCAGCAGCACTGGTAAAACCTTTCAGCCAGGATCCTGGATGCCACGAGATGGCAAGAGCCACA |
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FusionGenePPI for PPP1R12A_NDUFAF2 |
| 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 |
| PPP1R12A | IL16, PPP1CB, PRKG1, HDAC7, KDM1A, SETD7, ELAVL1, ARRB2, FBXO25, SIAH2, ATXN10, LRRK2, RHOA, CDV3, IDH3G, PAXIP1, FMNL1, PAN2, LATS1, AARSD1, ACTR3, ARPC2, CUL1, P3H1, NRD1, NSUN2, NUDT5, NUSAP1, OSGEP, PFDN1, PFDN5, RPRD1B, XPO5, PUS1, RPA1, TPP2, TRIM47, TTLL12, RPA3, RPA2, NUAK1, TP53, LUZP4, FKBP6, PHF7, CDK8, NTRK1, MED23, RPGRIP1L, CAPZA2, CDK2, CRK, DBN1, FLNA, MYH9, MYO1C, IQGAP1, ACTR2, SYNPO, ANLN, MYO5C, MYO19, MYO18A, FOS, CDKN3, JUNB, SERPINB2, NUAK2, SH3BP5L, ZNF263, TULP3 | NDUFAF2 | ACOT13, CDV3, RPS24, RPS26, PPIF, SUGP2, SON, ATXN3, CHST15, COQ9, C15orf48, NDUFA4, PTPMT1, COQ2, CBLN4 |
| - 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 PPP1R12A_NDUFAF2 |
| 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 PPP1R12A_NDUFAF2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | NDUFAF2 | C0752109 | Brain Diseases, Metabolic, Inborn | 1 | CTD_human |
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