|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 20698 |
FusionGeneSummary for MAML2_ANKMY2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAML2_ANKMY2 | Fusion gene ID: 20698 | Hgene | Tgene | Gene symbol | MAML2 | ANKMY2 | Gene ID | 84441 | 57037 |
| Gene name | mastermind like transcriptional coactivator 2 | ankyrin repeat and MYND domain containing 2 | |
| Synonyms | MAM-3|MAM2|MAM3|MLL-MAML2 | ZMYND20 | |
| Cytomap | 11q21 | 7p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mastermind-like protein 2mam-2mastermind-like 2 | ankyrin repeat and MYND domain-containing protein 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8IZL2 | Q8IV38 | |
| Ensembl transtripts involved in fusion gene | ENST00000524717, | ENST00000306999, ENST00000421746, | |
| Fusion gene scores | * DoF score | 11 X 8 X 5=440 | 2 X 2 X 2=8 |
| # samples | 12 | 2 | |
| ** MAII score | log2(12/440*10)=-1.87446911791614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: MAML2 [Title/Abstract] AND ANKMY2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. | ||
| * 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 | MAML2 | GO:0007219 | Notch signaling pathway | 12370315 |
| Hgene | MAML2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12370315 |
| 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 | LGG | TCGA-TM-A84I-01A | MAML2 | chr11 | 96074547 | - | ANKMY2 | chr7 | 16666803 | - |
| * 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 |
| In-frame | ENST00000524717 | ENST00000306999 | MAML2 | chr11 | 96074547 | - | ANKMY2 | chr7 | 16666803 | - |
| 5CDS-5UTR | ENST00000524717 | ENST00000421746 | MAML2 | chr11 | 96074547 | - | ANKMY2 | chr7 | 16666803 | - |
Top |
FusionProtFeatures for MAML2_ANKMY2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAML2 | ANKMY2 |
| Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. Potentiates activation by NOTCH3 and NOTCH4 more efficientlythan MAML1 or MAML3. {ECO:0000269|PubMed:12370315,ECO:0000269|PubMed:12386158, ECO:0000269|PubMed:12539049}. | May be involved in the trafficking of signaling proteinsto the cilia. {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 |
| Tgene | >ANKMY2 | chr11:96074547 | chr7:16666803 | ENST00000306999 | - | 1 | 10 | 159_188 | 44 | 442 | Repeat | Note=ANK 3 |
| Tgene | >ANKMY2 | chr11:96074547 | chr7:16666803 | ENST00000306999 | - | 1 | 10 | 45_74 | 44 | 442 | Repeat | Note=ANK 1 |
| Tgene | >ANKMY2 | chr11:96074547 | chr7:16666803 | ENST00000306999 | - | 1 | 10 | 79_108 | 44 | 442 | Repeat | Note=ANK 2 |
| Tgene | >ANKMY2 | chr11:96074547 | chr7:16666803 | ENST00000306999 | - | 1 | 10 | 320_357 | 44 | 442 | Zinc finger | MYND-type |
| - 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 |
Top |
FusionGeneSequence for MAML2_ANKMY2 |
| 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_MAML2_ENST00000524717_chr11_96074547_-_ANKMY2_ENST00000306999_chr7_16666803_-_569aa MGDTAPPQAPAGGLGGASGAGLLGGGSVTPRVHSAIVERLRARIAVCRQHHLSCEGRYERGRAESSDRERESTLQLLSLVQHGQGARKAG KHTKATATAATTTAPPPPPAAPPAASQAAATAAPPPPPDYHHHHQQHLLNSSNNGGSGGINGEQQPPASTPGDQRNSALIANGMTPLMHA AYKGKLDMCKLLLRHGADVNCHQHEHGYTALMFAALSGNKDITWVMLEAGAETDVVNSVGRTAAQMAAFVGQHDCVTIINNFFPRERLDY YTKPQGLDKEPKLPPKLAGPLHKIITTTNLHPVKIVMLVNENPLLTEEAALNKCYRVMDLICEKCMKQRDMNEVLAMKMHYISCIFQKCI NFLKDGENKLDTLIKSLLKGRASDGFPVYQEKIIRESIRKFPYCEATLLQQLVRSIAPVEIGSDPTAFSVLTQAITGQVGFVDVEFCTTC GEKGASKRCSVCKMVIYCDQTCQKTHWFTHKKICKNLKDIYEKQQLEAAKEKRQEENHGKLDVNSNCVNEEQPEAEVGISQKDSNPEDSG |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_MAML2_ENST00000524717_chr11_96074547_-_ANKMY2_ENST00000306999_chr7_16666803_-_1707nt ATGGGGGACACAGCGCCCCCGCAGGCCCCCGCAGGAGGGCTAGGGGGGGCCTCTGGGGCGGGGCTCCTTGGAGGGGGCTCAGTCACCCCG AGAGTGCACAGTGCTATCGTGGAGCGCCTCCGGGCTCGGATCGCTGTCTGCCGCCAACACCACCTGAGCTGTGAAGGACGATATGAACGA GGTAGGGCCGAGAGCTCAGACCGGGAAAGAGAAAGCACCTTGCAGCTCCTGAGCCTTGTACAGCATGGCCAGGGGGCAAGGAAAGCTGGC AAACACACCAAGGCCACCGCCACTGCTGCCACCACTACAGCCCCTCCACCGCCCCCTGCTGCCCCTCCTGCGGCCTCCCAAGCAGCAGCA ACAGCAGCCCCACCGCCCCCACCAGACTATCACCATCACCACCAGCAGCACCTGCTGAACAGTAGCAATAATGGTGGCAGTGGTGGGATA AACGGAGAGCAGCAGCCGCCCGCTTCAACCCCAGGGGACCAGAGGAACTCAGCCCTGATTGCGAATGGAATGACTCCTCTAATGCATGCA GCATATAAAGGAAAACTCGATATGTGCAAATTACTACTGCGACATGGAGCCGATGTAAATTGTCATCAGCATGAACATGGATACACAGCC CTCATGTTTGCTGCACTTTCTGGTAATAAAGACATCACATGGGTAATGTTAGAAGCTGGTGCTGAGACAGATGTTGTCAACTCTGTGGGA AGAACAGCAGCTCAGATGGCAGCCTTTGTGGGTCAACATGATTGTGTGACCATAATCAACAATTTCTTTCCTCGAGAGAGACTGGATTAT TACACTAAGCCCCAGGGACTGGATAAAGAGCCAAAACTGCCCCCAAAGTTGGCAGGCCCGCTGCACAAAATTATCACCACAACGAATCTT CATCCTGTCAAGATCGTGATGCTTGTAAATGAGAATCCTCTGCTGACAGAAGAAGCAGCCCTGAATAAATGCTACAGAGTGATGGATTTG ATTTGTGAGAAATGTATGAAGCAAAGAGACATGAATGAAGTATTGGCTATGAAGATGCATTACATAAGCTGTATCTTTCAGAAATGCATT AACTTCTTAAAAGATGGAGAGAATAAACTGGACACCTTGATCAAAAGCTTGTTAAAAGGCCGAGCTTCTGATGGCTTTCCAGTGTATCAA GAAAAGATCATTAGAGAAAGTATCAGAAAATTTCCTTACTGTGAAGCTACACTCCTCCAGCAGCTGGTTCGAAGCATTGCTCCTGTTGAA ATTGGTTCTGATCCCACTGCATTCTCCGTCCTTACCCAAGCCATCACTGGCCAGGTGGGTTTTGTGGATGTGGAATTTTGCACTACCTGT GGAGAAAAGGGAGCAAGTAAAAGATGTTCAGTTTGCAAAATGGTAATATATTGTGATCAAACCTGCCAGAAAACACACTGGTTTACTCAT AAGAAAATCTGTAAGAATCTGAAGGACATTTACGAAAAGCAACAGTTGGAGGCTGCCAAAGAAAAGAGACAAGAGGAAAACCACGGCAAA CTTGATGTCAATTCTAACTGTGTTAATGAAGAGCAACCAGAGGCTGAAGTAGGTATCTCTCAAAAGGATTCCAATCCTGAAGATTCCGGG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_MAML2_ENST00000524717_chr11_96074547_-_ANKMY2_ENST00000306999_chr7_16666803_-_3977nt CTCCCTCTCCTATCGGAGCACAATGAAAGCCTGTGTATCGCCGTGACTCCGGGCGCGAGCCAGTGTCAGCAAAGCGGCTAACAACAGACG AGAAAGAGAAAGGAAAATACAAGCTACTTTTTTTTTCCATCTATAAAGCGGAGCAAATACAGGAGATAGAACCAGATTGCTTATTGCGAG TCCAGACCCTCAGATCCACTGGCCGGGGATGGAATGTACAAAAGTGGACAGAAAAGTGGCTGGACATGACTCGGTGCAATTTGCTGGAAG TTTGTAAGTTTGACCATCGTTTGTAAATTACTCTCGGAAGAGTTTGTCTCTCTTGATACTGTATTAGAATAGAGCCGGGGGTGAGGAATA GAAACGTAAGCGGGAAAGAAAAAAATGTGTTGAAGGATCTCTCTCAGTGGCTAGCGACTTAAGATTGCTTTTCATTTAAGGCTAGGAAAC CTTAGAGGGAGTGAGGATTTTACCGGTGATTGGATTAGCTGAAGAAAAAAGCATGGTCCAAAAGTCCAATTACTGACATTGTTAACAGTT GAAAAGCTGTCTCCCTCTTTTGGGAGAAGACAACATCCTACAGTACCCCAAAGAGGAGAAAACACCGGAGCGAAAGGAAAGGGAGGAAAA ATTAAAAGCCAAAAGACAGTCTCCCTTGATTTTTGCACATTTTGAACAGTGACTTAAACATCTTCTGAAACAGCACTGTTTTGTTTTGTT TTGGTTTTTTATTTAACCTGAGGAAAAGTCAAGGCTGCTGGTTACATAGACATGGTAGAAATGTGTTTCTCTGCAGAAACATCCCCATAA AGAATTGTCGGAAACAACTAGGTGAGGGGGAGTCCTCTCTATTAATACCTCTCTCAATACCTTTTGCTGTGTGTTTCTGTCTCTTGCTGG ACAATCCCTGAATTCTTGATCTAACCCCCAGATCGTGTGTTTACAAAGTACCTAGTGGCTCTTGTCAGCTTGGTGGAGGAAAAAAAATCC ACCAACTCTGTCCAACTTCTCCAGAGCTGTCAAATGCAATTAGAGTAAGTTAATCAGGGTTTGTTTCCAACTTATCCTCCCCCCAGTTGG TTTCTATTCTTTCTCCCCACCCTCTTTTTACTAACTCCCCTCCCCCACAACTTCTCCACGGCTCCCCCACAACCTCTGAAGACCTCTATT CATGTGGCCCTGAACACTGAGCTCACATTGTCAAAAACAGACTTGCCTGCAATAGCCAGCAGTAGCCTCTTTCCACCTCACCATCCCAGA GGCAGCAATCATTGTGTCCGGTAAGATGGGGGACACAGCGCCCCCGCAGGCCCCCGCAGGAGGGCTAGGGGGGGCCTCTGGGGCGGGGCT CCTTGGAGGGGGCTCAGTCACCCCGAGAGTGCACAGTGCTATCGTGGAGCGCCTCCGGGCTCGGATCGCTGTCTGCCGCCAACACCACCT GAGCTGTGAAGGACGATATGAACGAGGTAGGGCCGAGAGCTCAGACCGGGAAAGAGAAAGCACCTTGCAGCTCCTGAGCCTTGTACAGCA TGGCCAGGGGGCAAGGAAAGCTGGCAAACACACCAAGGCCACCGCCACTGCTGCCACCACTACAGCCCCTCCACCGCCCCCTGCTGCCCC TCCTGCGGCCTCCCAAGCAGCAGCAACAGCAGCCCCACCGCCCCCACCAGACTATCACCATCACCACCAGCAGCACCTGCTGAACAGTAG CAATAATGGTGGCAGTGGTGGGATAAACGGAGAGCAGCAGCCGCCCGCTTCAACCCCAGGGGACCAGAGGAACTCAGCCCTGATTGCGAA TGGAATGACTCCTCTAATGCATGCAGCATATAAAGGAAAACTCGATATGTGCAAATTACTACTGCGACATGGAGCCGATGTAAATTGTCA TCAGCATGAACATGGATACACAGCCCTCATGTTTGCTGCACTTTCTGGTAATAAAGACATCACATGGGTAATGTTAGAAGCTGGTGCTGA GACAGATGTTGTCAACTCTGTGGGAAGAACAGCAGCTCAGATGGCAGCCTTTGTGGGTCAACATGATTGTGTGACCATAATCAACAATTT CTTTCCTCGAGAGAGACTGGATTATTACACTAAGCCCCAGGGACTGGATAAAGAGCCAAAACTGCCCCCAAAGTTGGCAGGCCCGCTGCA CAAAATTATCACCACAACGAATCTTCATCCTGTCAAGATCGTGATGCTTGTAAATGAGAATCCTCTGCTGACAGAAGAAGCAGCCCTGAA TAAATGCTACAGAGTGATGGATTTGATTTGTGAGAAATGTATGAAGCAAAGAGACATGAATGAAGTATTGGCTATGAAGATGCATTACAT AAGCTGTATCTTTCAGAAATGCATTAACTTCTTAAAAGATGGAGAGAATAAACTGGACACCTTGATCAAAAGCTTGTTAAAAGGCCGAGC TTCTGATGGCTTTCCAGTGTATCAAGAAAAGATCATTAGAGAAAGTATCAGAAAATTTCCTTACTGTGAAGCTACACTCCTCCAGCAGCT GGTTCGAAGCATTGCTCCTGTTGAAATTGGTTCTGATCCCACTGCATTCTCCGTCCTTACCCAAGCCATCACTGGCCAGGTGGGTTTTGT GGATGTGGAATTTTGCACTACCTGTGGAGAAAAGGGAGCAAGTAAAAGATGTTCAGTTTGCAAAATGGTAATATATTGTGATCAAACCTG CCAGAAAACACACTGGTTTACTCATAAGAAAATCTGTAAGAATCTGAAGGACATTTACGAAAAGCAACAGTTGGAGGCTGCCAAAGAAAA GAGACAAGAGGAAAACCACGGCAAACTTGATGTCAATTCTAACTGTGTTAATGAAGAGCAACCAGAGGCTGAAGTAGGTATCTCTCAAAA GGATTCCAATCCTGAAGATTCCGGGGAAGGAAAGAAAGAATCTCTTGAAAGCGAAGCTGAGTTGGAAGGCTTACAGGATGCTCCTGCAGG GCCACAGGTGTCTGAGGAGTAAAAGCCAGAGCAAGTGCCAGTGTGGATGATCCTCACCCTGCAAGAAGCTGGAAAACTCCTAGGAATGCA TTGTCCTCACCTTGTTATACCTGCGTGGCACCATGGCAGGATTCCACATTTCATAGAATACAGGTTTTCAAGCAAACCCCTGTTGACCAT GCCCTAATTTCCTATTGATTTCTGTTCTATAATTGAATGGATATTCCTATGGAAAATTTTTTGTTTCAAAATACAGGAAAAACATTCCTA TTACCTTTCTGAGGCTGGCTTTCCAGCAATTGTTTCAAAGGAAAATAGATCCCCTTAAAGAAAAAATACAGGCTTTAGGGAACAAAGGGA CAAGCAGAACAGGTGTGGAAGAGAGATTTTCAGGAAGGGAAAAATTTATAGCTACAGAGGGTAGTTAGAAAAATCATAACTTATATGTGA ATAAAATACATATAAGCAGCATTTACGGTAGTGGCATTCTACTTATTAAGATGCAATGAAATGAAGAAAGGCTTTATGTTCAAGGACCTT TGCCATAGTTCAGCTAATTGTAGTTTTATATAGAAATGATCCTGAACACTCTGAACTTGACGTAGTCCTGCGGTGATATTCTATCTGCAG TATTTGTACCTCCAGAATGGCAGATCCCTCAGCAGGAACAAAGGCATATTGACGGTTCTCTCAGCGTATGCATTAAAAAAGGTACTTCCT GAAACTTTTGATTCAATAATGACTAAACATACTATGTACACAATTACTGTAAGGCTAATTCACGTGCCATACTCCACCTGAAAGCCTGAG TTATCTTGCTATAAGCTTTTCATGGAGCACTTCCTTTCCAGAAACTGATTTGTAACTCATTTAGAGAATGTCCTGGCGTCGGTTTTTAGC ATATGTGGTATTTAAACAGAGCTAGAATGTGATGTCTGAAGATAATGCTGCATTTCTGGGTTTCTTGTGTGGATTTTAAAATAAATTGTG |
Top |
FusionGenePPI for MAML2_ANKMY2 |
| 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 |
| MAML2 | MAML1, NOTCH1, DIABLO, CREBBP, EP300, RBPJ | ANKMY2 | TINF2, ACD, POT1, AARS, CTSC, DHPS, DTD1, LRSAM1, PARP6, PLIN3, RPRD1A, STAT5B, SURF2, ARIH1, HSF1, FKBP5, AGO3, RPS6KB2, METTL13, SKIV2L2, SSB, ARFGEF2, HNRNPF, KIF5C, PBDC1, DUSP8, GUCY1B3, KANSL3, ADCY3, HSP90AB3P, SNX4, AGO4, PTGES3, ADCY6, FKBP8, KLHL26, GUCY1A3, HSP90AA1, DNAAF1 |
| - 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 |
Top |
RelatedDrugs for MAML2_ANKMY2 |
| 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 |
Top |
RelatedDiseases for MAML2_ANKMY2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MAML2 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|