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Fusion gene ID: 26098 |
FusionGeneSummary for PAXIP1_NCAPG2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PAXIP1_NCAPG2 | Fusion gene ID: 26098 | Hgene | Tgene | Gene symbol | PAXIP1 | NCAPG2 | Gene ID | 22976 | 54892 |
| Gene name | PAX interacting protein 1 | non-SMC condensin II complex subunit G2 | |
| Synonyms | CAGF28|CAGF29|PACIP1|PAXIP1L|PTIP|TNRC2 | CAP-G2|CAPG2|LUZP5|MTB|hCAP-G2 | |
| Cytomap | 7q36.2 | 7q36.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | PAX-interacting protein 1PAX interacting (with transcription-activation domain) protein 1PAX transcription activation domain interacting protein 1 likeprotein encoded by CAG trinucleotide repeats | condensin-2 complex subunit G2chromosome-associated protein G2leucine zipper protein 5more than blood homolog | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q6ZW49 | Q86XI2 | |
| Ensembl transtripts involved in fusion gene | ENST00000404141, ENST00000397192, ENST00000473219, | ENST00000356309, ENST00000409423, ENST00000275830, ENST00000409339, ENST00000449727, ENST00000541468, ENST00000479022, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: PAXIP1 [Title/Abstract] AND NCAPG2 [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 | PAXIP1 | GO:0010212 | response to ionizing radiation | 15456759 |
| Hgene | PAXIP1 | GO:0051568 | histone H3-K4 methylation | 17178841 |
| 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 | LUSC | TCGA-94-8491-01A | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| * 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 | ENST00000404141 | ENST00000356309 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| Frame-shift | ENST00000404141 | ENST00000409423 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| In-frame | ENST00000404141 | ENST00000275830 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5CDS-intron | ENST00000404141 | ENST00000409339 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5CDS-intron | ENST00000404141 | ENST00000449727 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5CDS-intron | ENST00000404141 | ENST00000541468 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5CDS-intron | ENST00000404141 | ENST00000479022 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| Frame-shift | ENST00000397192 | ENST00000356309 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| Frame-shift | ENST00000397192 | ENST00000409423 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| In-frame | ENST00000397192 | ENST00000275830 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5CDS-intron | ENST00000397192 | ENST00000409339 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5CDS-intron | ENST00000397192 | ENST00000449727 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5CDS-intron | ENST00000397192 | ENST00000541468 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5CDS-intron | ENST00000397192 | ENST00000479022 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5UTR-3CDS | ENST00000473219 | ENST00000356309 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5UTR-3CDS | ENST00000473219 | ENST00000409423 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5UTR-3CDS | ENST00000473219 | ENST00000275830 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5UTR-intron | ENST00000473219 | ENST00000409339 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5UTR-intron | ENST00000473219 | ENST00000449727 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5UTR-intron | ENST00000473219 | ENST00000541468 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
| 5UTR-intron | ENST00000473219 | ENST00000479022 | PAXIP1 | chr7 | 154790360 | - | NCAPG2 | chr7 | 158424409 | - |
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FusionProtFeatures for PAXIP1_NCAPG2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PAXIP1 | NCAPG2 |
| Involved in DNA damage response and in transcriptionalregulation through histone methyltransferase (HMT) complexes.Plays a role in early development. In DNA damage response isrequired for cell survival after ionizing radiation. In vitroshown to be involved in the homologous recombination mechanism forthe repair of double-strand breaks (DSBs). Its localization to DNAdamage foci requires RNF8 and UBE2N. Recruits TP53BP1 to DNAdamage foci and, at least in particular repair processes,effective DNA damage response appears to require the associationwith TP53BP1 phosphorylated by ATM at 'Ser-25'. Together withTP53BP1 regulates ATM association. Proposed to recruit PAGR1 tosites of DNA damage and the PAGR1:PAXIP1 complex is required forcell survival in response to DNA damage; the function is probablyindependent of MLL-containing histone methyltransferase (HMT)complexes. However, this function has been questioned (Bysimilarity). Promotes ubiquitination of PCNA following UVirradiation and may regulate recruitment of polymerase eta andRAD51 to chromatin after DNA damage. Proposed to be involved intranscriptional regulation by linking MLL-containing histonemethyltransferase (HMT) complexes to gene promoters by interactingwith promoter-bound transcription factors such as PAX2. Associateswith gene promoters that are known to be regulated by KMT2D/MLL2.During immunoglobulin class switching in activated B-cells isinvolved in trimethylation of histone H3 at 'Lys-4' and intranscription initiation of downstream switch regions at theimmunoglobulin heavy-chain (Igh) locus; this function appears toinvolve the recruitment of MLL-containing HMT complexes.Conflictingly, its function in transcriptional regulation duringimmunoglobulin class switching is reported to be independent ofthe MLL2/MLL3 complex (By similarity).{ECO:0000250|UniProtKB:Q6NZQ4, ECO:0000269|PubMed:14576432,ECO:0000269|PubMed:15456759, ECO:0000269|PubMed:17690115,ECO:0000269|PubMed:17925232, ECO:0000269|PubMed:18353733,ECO:0000269|PubMed:20088963, ECO:0000269|PubMed:23727112}. | Regulatory subunit of the condensin-2 complex, a complexwhich establishes mitotic chromosome architecture and is involvedin physical rigidity of the chromatid axis.{ECO:0000269|PubMed:14532007}. |
| 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 PAXIP1_NCAPG2 |
| 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_PAXIP1_ENST00000404141_chr7_154790360_-_NCAPG2_ENST00000275830_chr7_158424409_-_89aa >In-frame_PAXIP1_ENST00000397192_chr7_154790360_-_NCAPG2_ENST00000275830_chr7_158424409_-_89aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PAXIP1_ENST00000404141_chr7_154790360_-_NCAPG2_ENST00000275830_chr7_158424409_-_268nt ATGTCGGACCAGGCGCCCAAAGTTCCTGAGGAGATGTTCAGGGAGGTCAAGTATTACGCGGTGGGCGACATCGACCCGCAGGTTATTCAG CTTCTCAAGGCTGGAAAAGCGAAGGAAGTTTCCTACAATGCACTAGCCTCACACATAATCTCAGAGGATGGGGACAATCCAGAGGTGGGA >In-frame_PAXIP1_ENST00000397192_chr7_154790360_-_NCAPG2_ENST00000275830_chr7_158424409_-_268nt ATGTCGGACCAGGCGCCCAAAGTTCCTGAGGAGATGTTCAGGGAGGTCAAGTATTACGCGGTGGGCGACATCGACCCGCAGGTTATTCAG CTTCTCAAGGCTGGAAAAGCGAAGGAAGTTTCCTACAATGCACTAGCCTCACACATAATCTCAGAGGATGGGGACAATCCAGAGGTGGGA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PAXIP1_ENST00000404141_chr7_154790360_-_NCAPG2_ENST00000275830_chr7_158424409_-_651nt GGCGGGGGAGCGGACCCCGATTCGCAGGACCGGGCCCGGGCTGCGCGGGCAGGGCCGTTGGCGGGGCGAGTGGGGGCGCCGGGCGCCGCG GGGGCCGGGGGCGGGGGGTGGGCGGGGCCGGGCGCCGCCGCGGAGCCTCCCGGGCCGCCGCGATCATGTCGGACCAGGCGCCCAAAGTTC CTGAGGAGATGTTCAGGGAGGTCAAGTATTACGCGGTGGGCGACATCGACCCGCAGGTTATTCAGCTTCTCAAGGCTGGAAAAGCGAAGG AAGTTTCCTACAATGCACTAGCCTCACACATAATCTCAGAGGATGGGGACAATCCAGAGGTGGGAGAAGCTCGGGAAGTCTTTGACTTAC CTGTTGTAAAGATTTCTCTATGAATCATCATCAAGAACTCTGGGAGAACTTTTGAATTCATAACCAAGCCAACATCTCCAGACATGTAAA AATAGGGAAAAGTGATTCAAATTGAAATGCCTGTGTATTTTCCTATTGTTTTTAATGTTAATAACCCATATAATAGGGAAAGGGTGGGAT TTTTTTGTGGGAATGTGGGAAGGTGGGGGTTATGGAGGAGATAACTCAAAACTTCTTCAATTTTGCCTAGTGCCTGCGTAAATAATATAT >In-frame_PAXIP1_ENST00000397192_chr7_154790360_-_NCAPG2_ENST00000275830_chr7_158424409_-_539nt CGGGGCCGGGCGCCGCCGCGGAGCCTCCCGGGCCGCCGCGATCATGTCGGACCAGGCGCCCAAAGTTCCTGAGGAGATGTTCAGGGAGGT CAAGTATTACGCGGTGGGCGACATCGACCCGCAGGTTATTCAGCTTCTCAAGGCTGGAAAAGCGAAGGAAGTTTCCTACAATGCACTAGC CTCACACATAATCTCAGAGGATGGGGACAATCCAGAGGTGGGAGAAGCTCGGGAAGTCTTTGACTTACCTGTTGTAAAGATTTCTCTATG AATCATCATCAAGAACTCTGGGAGAACTTTTGAATTCATAACCAAGCCAACATCTCCAGACATGTAAAAATAGGGAAAAGTGATTCAAAT TGAAATGCCTGTGTATTTTCCTATTGTTTTTAATGTTAATAACCCATATAATAGGGAAAGGGTGGGATTTTTTTGTGGGAATGTGGGAAG |
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FusionGenePPI for PAXIP1_NCAPG2 |
| 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 |
| PAXIP1 | ZBTB8A, TP53BP1, PAX2, KDM6A, PAGR1, NCOA6, SRRM1, KMT2D, KMT2C, SMC1A, SMC3, RAD50, ASH2L, RBBP5, PRMT5, WDR5, HIST1H3A, KMT2B, BLM, MRE11A, DPY30, NBN, KDM1B, WDR82, EP300, ELAVL1, H2AFX, A2M, ECSIT, MAST1, APP, NOS3, RNF32, TCN2, SH3GL2, UMPS, CLU, EPB41L3, PCYT1B, RPS27A, SCAMP5, TECR, NOP14, ATP1B1, ATP1B3, FUCA1, DNAJA1, LDHA, LGALS3, MT2A, ND1, PCBP2, PER1, PGM1, PLCD1, PPIA, PPP2R5C, PSMA6, RPA1, RPL12, RPS20, SRSF2, SPAG4, TADA2A, PKP4, PIAS1, EIF3I, SNX3, PIAS2, XAGE1E, MRPL33, PRDX6, EIF5B, FBLN5, NPC2, CCT6B, SUGT1, KIF2C, SOX30, HSPA4L, TRAPPC8, SUZ12, CCNDBP1, INTS7, CABYR, SCCPDH, CYB5R4, HSPA14, PPHLN1, FAM96B, DNAJB11, C2orf42, DCP1A, CBX8, WDR48, CATSPERG, DYNC2H1, ATHL1, TM2D3, FAHD1, TMEM120A, BTBD6, ZNF251, HNRNPLL, LACTB, DIS3L, BTBD16, COMTD1, SPATA18, ZNF280B, MTIF3, CRIPAK, SELV, LOC653602, AAMP, CAPZA1, CAPZB, CDC5L, CDC20, CDC27, CDK9, CIRBP, CLTC, CSNK2A1, CSNK2B, DKC1, EMD, ERF, ERH, FEN1, XRCC6, GCLC, LDHB, MCM6, MYO1D, PPP1R12A, DRG1, NME4, NOP2, YBX1, PPP1CC, PPP2CA, PRPSAP1, RBBP7, RFC2, RFC4, S100A8, SRSF1, SRSF4, SRSF5, SRSF7, TRA2B, SLC1A5, SNRNP70, SNRPD3, SRP9, SRPK1, SSB, STAU1, STRN, TMPO, TPM3, WEE1, YBX3, EIF3H, SRSF9, CDC23, CCNK, CDC16, DDX18, EIF2S2, H1FX, GTF3C5, DDX23, MAP4K4, BRE, MDC1, BCLAF1, NCAPD2, THRAP3, G3BP1, ALYREF, GNB2L1, CD2BP2, PPIH, SMC2, MYL12A, MGEA5, SRSF10, EBNA1BP2, MAPRE2, DDX52, KRR1, WDHD1, STRAP, COPE, PHB2, RAB3GAP1, PDCD11, NCAPD3, U2SURP, LARP1, TARDBP, SRRM2, RAB3GAP2, MOB4, DCAF13, GPKOW, BABAM1, STRN4, TRA2A, ANAPC4, STOML2, HP1BP3, NOL7, ANAPC5, ANAPC7, LIMA1, C9orf114, LARP7, LUC7L2, CPSF3, UIMC1, CDK12, PHAX, PELO, GPATCH4, RNMTL1, LYAR, PRPF40A, CCDC88A, WDR18, RBM25, AASDHPPT, NCAPG, POLR1E, NOM1, ANAPC1, KRI1, BRCC3, CENPU, FAM175A, C7orf50, ZNF622, RLTPR, NOP9, PGAM5, SKA3, SMAD2, PPARG, POM121, NXT1, MED23, XPO1, CCNB2, NANOG, POU5F1, CCDC97, MTNR1A, FOXA1 | NCAPG2 | TAL1, NCAPH2, SMC2, NCAPD3, EGFR, FUS, RIC3, NTRK1, ACTN4, CLTB, SSU72, ESR1, EPHA1, RAF1, CCP110, UHRF2 |
| - 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 PAXIP1_NCAPG2 |
| 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 PAXIP1_NCAPG2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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