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Fusion gene ID: 20597 |
FusionGeneSummary for MAK_INTS12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAK_INTS12 | Fusion gene ID: 20597 | Hgene | Tgene | Gene symbol | MAK | INTS12 | Gene ID | 4117 | 57117 |
| Gene name | male germ cell associated kinase | integrator complex subunit 12 | |
| Synonyms | RP62 | INT12|PHF22|SBBI22 | |
| Cytomap | 6p24.2 | 4q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase MAKmale germ cell-associated kinase retinal-enriched isoformserine/threonine protein kinase MAKtesticular secretory protein Li 28 | integrator complex subunit 12PHD finger protein 22hypothetical nuclear factor SBBI22 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P20794 | Q96CB8 | |
| Ensembl transtripts involved in fusion gene | ENST00000354489, ENST00000313243, ENST00000474039, ENST00000538030, ENST00000536370, | ENST00000394735, ENST00000340139, ENST00000451321, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 2 X 2=12 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MAK [Title/Abstract] AND INTS12 [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 | MAK | GO:0006468 | protein phosphorylation | 21986944 |
| Tgene | INTS12 | GO:0016180 | snRNA processing | 16239144 |
| 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 | PRAD | TCGA-HC-8266-01A | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| * 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 | ENST00000354489 | ENST00000394735 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000354489 | ENST00000340139 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000354489 | ENST00000451321 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000313243 | ENST00000394735 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000313243 | ENST00000340139 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000313243 | ENST00000451321 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000474039 | ENST00000394735 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000474039 | ENST00000340139 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| In-frame | ENST00000474039 | ENST00000451321 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000538030 | ENST00000394735 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000538030 | ENST00000340139 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| Frame-shift | ENST00000538030 | ENST00000451321 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| intron-3CDS | ENST00000536370 | ENST00000394735 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| intron-3CDS | ENST00000536370 | ENST00000340139 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
| intron-3CDS | ENST00000536370 | ENST00000451321 | MAK | chr6 | 10791908 | - | INTS12 | chr4 | 106604474 | - |
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FusionProtFeatures for MAK_INTS12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAK | INTS12 |
| Essential for the regulation of ciliary length andrequired for the long-term survival of photoreceptors (Bysimilarity). Phosphorylates FZR1 in a cell cycle-dependent manner.Plays a role in the transcriptional coactivation of AR. Could playan important function in spermatogenesis. May play a role inchromosomal stability in prostate cancer cells. {ECO:0000250,ECO:0000269|PubMed:12084720, ECO:0000269|PubMed:16951154,ECO:0000269|PubMed:21986944}. | Component of the Integrator complex, a complex involvedin the small nuclear RNAs (snRNA) U1 and U2 transcription and intheir 3'-box-dependent processing. The Integrator complex isassociated with the C-terminal domain (CTD) of RNA polymerase IIlargest subunit (POLR2A) and is recruited to the U1 and U2 snRNAsgenes (PubMed:16239144). Mediates recruitment of cytoplasmicdynein to the nuclear envelope, probably as component of the INTcomplex (PubMed:23904267). {ECO:0000269|PubMed:16239144,ECO:0000269|PubMed:23904267}. |
| 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 MAK_INTS12 |
| 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_MAK_ENST00000474039_chr6_10791908_-_INTS12_ENST00000451321_chr4_106604474_-_633aa MNRYTTMRQLGDGTYGSVLMGKSNESGELVAIKRMKRKFYSWDECMNLREVKSLKKLNHANVIKLKEVIRENDHLYFIFEYMKENLYQLM KDRNKLFPESVIRNIMYQILQGLAFIHKHGFFHRDMKPENLLCMGPELVKIADFGLARELRSQPPYTDYVSTRWYRAPEVLLRSSVYSSP IDVWAVGSIMAELYMLRPLFPGTSEVDEIFKICQVLGTPKKSDWPEGYQLASSMNFRFPQCVPINLKTLIPNASNEAIQLMTEMLNWDPK KRPTASQALKHPYFQVGQVLGPSSNHLESKQSLNKQLQPLESKPSLVEVEPKPLPDIIDQVVGQPQPKTSQQPLQPIQPPQNLSVQQPPK QQSQEKPPQTLFPSIVKNMPTKPNGTLSHKSGRRRWGQTIFKSGDSWEELEDYDFGASHSKKPSMGVFKEKRKKDSPFRHPQLFQEILLV PAFPRQXLVAXLDGQLLQPKLPLLVLQQQNXVQQHKTILGNLLLRQLTRNLWVXLVWQHHPKVEXVPKXVPITALRPLYLXNHLHLXPWV KLALVAQLVVTMSAKXVFLVQVVXFQEAAANXVGMEIVEHQDLVEVLPAKLLQNPAALPQHPLKAQLHKNHSSMLXSDYRWSRRKLPKRN |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_MAK_ENST00000474039_chr6_10791908_-_INTS12_ENST00000451321_chr4_106604474_-_1901nt ATGAACCGATACACAACCATGAGACAGTTGGGGGACGGCACGTATGGGAGTGTGCTTATGGGCAAGAGTAATGAATCCGGGGAGCTGGTG GCCATCAAAAGGATGAAGAGAAAGTTCTATTCTTGGGATGAATGCATGAACTTGAGAGAAGTTAAGTCTCTGAAGAAACTTAATCATGCC AATGTTATTAAATTGAAAGAAGTTATCAGAGAAAATGACCATCTTTATTTTATATTTGAATATATGAAAGAAAACCTCTATCAATTAATG AAAGACAGAAACAAGTTGTTCCCTGAATCAGTCATCAGAAATATTATGTATCAAATATTGCAAGGGCTGGCTTTTATCCATAAACATGGC TTTTTTCATAGGGACATGAAACCAGAAAACTTGCTTTGTATGGGTCCAGAGCTTGTGAAAATTGCTGATTTTGGACTTGCAAGAGAATTA AGGTCACAGCCACCATACACTGATTATGTATCTACCAGATGGTATCGTGCCCCTGAAGTTTTACTGAGATCTTCAGTTTATAGTTCTCCC ATTGATGTGTGGGCTGTTGGAAGTATCATGGCTGAACTCTATATGTTAAGGCCACTTTTCCCAGGGACAAGTGAGGTCGATGAAATCTTT AAAATTTGCCAAGTTTTAGGGACTCCCAAAAAAAGTGACTGGCCAGAAGGATACCAGCTGGCATCCTCTATGAACTTCCGTTTTCCCCAG TGTGTTCCTATAAACTTAAAAACTCTTATTCCCAATGCCAGTAATGAAGCTATTCAGCTCATGACCGAAATGTTGAATTGGGATCCAAAG AAACGACCGACAGCAAGCCAGGCATTGAAACACCCATATTTTCAAGTTGGTCAGGTATTAGGCCCTTCGTCAAATCATCTGGAATCAAAA CAGTCTTTAAATAAGCAGCTGCAACCATTAGAATCAAAGCCATCTTTAGTTGAGGTAGAGCCTAAGCCTCTGCCGGATATAATCGATCAG GTTGTTGGACAACCCCAGCCAAAAACTAGCCAGCAGCCACTGCAGCCCATTCAGCCGCCACAGAACCTGAGCGTCCAGCAACCTCCAAAG CAACAGAGTCAGGAGAAACCGCCACAAACGCTATTCCCGAGCATCGTCAAAAACATGCCAACTAAGCCAAATGGCACACTGAGTCATAAA AGTGGTAGGAGGCGTTGGGGTCAGACTATCTTCAAGTCTGGAGATAGCTGGGAAGAGTTGGAGGACTATGATTTCGGAGCCTCCCATTCC AAGAAGCCAAGCATGGGTGTTTTTAAAGAAAAAAGGAAAAAAGATTCTCCATTTCGACATCCACAGTTATTTCAGGAAATTCTTCTAGTG CCAGCGTTTCCTCGTCAGTAACTAGTGGCTTAACTGGATGGGCAGCTTTTGCAGCCAAAACTTCCTCTGCTGGTCCTTCAACAGCAAAAT TGAGTTCAACAACACAAAACAATACTGGGAAACCTGCTACTTCGTCAGCTAACCAGAAACCTGTGGGTTTGACTGGTCTGGCAACATCAT CCAAAGGTGGAATAGGTTCCAAAATAGGTTCCAATAACAGCACTACGCCCACTGTACCTTTAAAACCACCTCCACCTCTAACCTTGGGTA AAACTGGCCTTAGTCGCTCAGTTAGTTGTGACAATGTCAGCAAAGTAGGTCTTCCTAGTCCAAGTAGTTTAGTTCCAGGAAGCAGCAGCC AACTAAGTGGGAATGGAAATAGTGGAACATCAGGACCTAGTGGAAGTACTACCAGCAAAACTACTTCAGAATCCAGCAGCTCTCCCTCAG CATCCCTTAAAGGCCCAACTTCACAAGAATCACAGCTCAATGCTATGAAGCGATTACAGATGGTCAAGAAGAAAGCTGCCCAAAAGAAAC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_MAK_ENST00000474039_chr6_10791908_-_INTS12_ENST00000451321_chr4_106604474_-_2265nt CGCCGGAGCTTCACAAGGGAGCGAACGAGGGTGTTTATAAGAATGGAAGTGTTGTTTCCTTGCCCGATTCCTTCATGCTATATCTCATGA ACCTCTGTAATCTTGGGGGAGAGACTATATTTAATGATGACAAACCTGTCACCAGTGTAGCAACAACAGTGTGAGGACAAAAGCAAATAA AAATTAAGAAGCGTTCAAATTTATATTCAACAAGGAAGTCATTTCAATCAACAACTTCTGCTGCATTATTTTTCCAAGATGAACCGATAC ACAACCATGAGACAGTTGGGGGACGGCACGTATGGGAGTGTGCTTATGGGCAAGAGTAATGAATCCGGGGAGCTGGTGGCCATCAAAAGG ATGAAGAGAAAGTTCTATTCTTGGGATGAATGCATGAACTTGAGAGAAGTTAAGTCTCTGAAGAAACTTAATCATGCCAATGTTATTAAA TTGAAAGAAGTTATCAGAGAAAATGACCATCTTTATTTTATATTTGAATATATGAAAGAAAACCTCTATCAATTAATGAAAGACAGAAAC AAGTTGTTCCCTGAATCAGTCATCAGAAATATTATGTATCAAATATTGCAAGGGCTGGCTTTTATCCATAAACATGGCTTTTTTCATAGG GACATGAAACCAGAAAACTTGCTTTGTATGGGTCCAGAGCTTGTGAAAATTGCTGATTTTGGACTTGCAAGAGAATTAAGGTCACAGCCA CCATACACTGATTATGTATCTACCAGATGGTATCGTGCCCCTGAAGTTTTACTGAGATCTTCAGTTTATAGTTCTCCCATTGATGTGTGG GCTGTTGGAAGTATCATGGCTGAACTCTATATGTTAAGGCCACTTTTCCCAGGGACAAGTGAGGTCGATGAAATCTTTAAAATTTGCCAA GTTTTAGGGACTCCCAAAAAAAGTGACTGGCCAGAAGGATACCAGCTGGCATCCTCTATGAACTTCCGTTTTCCCCAGTGTGTTCCTATA AACTTAAAAACTCTTATTCCCAATGCCAGTAATGAAGCTATTCAGCTCATGACCGAAATGTTGAATTGGGATCCAAAGAAACGACCGACA GCAAGCCAGGCATTGAAACACCCATATTTTCAAGTTGGTCAGGTATTAGGCCCTTCGTCAAATCATCTGGAATCAAAACAGTCTTTAAAT AAGCAGCTGCAACCATTAGAATCAAAGCCATCTTTAGTTGAGGTAGAGCCTAAGCCTCTGCCGGATATAATCGATCAGGTTGTTGGACAA CCCCAGCCAAAAACTAGCCAGCAGCCACTGCAGCCCATTCAGCCGCCACAGAACCTGAGCGTCCAGCAACCTCCAAAGCAACAGAGTCAG GAGAAACCGCCACAAACGCTATTCCCGAGCATCGTCAAAAACATGCCAACTAAGCCAAATGGCACACTGAGTCATAAAAGTGGTAGGAGG CGTTGGGGTCAGACTATCTTCAAGTCTGGAGATAGCTGGGAAGAGTTGGAGGACTATGATTTCGGAGCCTCCCATTCCAAGAAGCCAAGC ATGGGTGTTTTTAAAGAAAAAAGGAAAAAAGATTCTCCATTTCGACATCCACAGTTATTTCAGGAAATTCTTCTAGTGCCAGCGTTTCCT CGTCAGTAACTAGTGGCTTAACTGGATGGGCAGCTTTTGCAGCCAAAACTTCCTCTGCTGGTCCTTCAACAGCAAAATTGAGTTCAACAA CACAAAACAATACTGGGAAACCTGCTACTTCGTCAGCTAACCAGAAACCTGTGGGTTTGACTGGTCTGGCAACATCATCCAAAGGTGGAA TAGGTTCCAAAATAGGTTCCAATAACAGCACTACGCCCACTGTACCTTTAAAACCACCTCCACCTCTAACCTTGGGTAAAACTGGCCTTA GTCGCTCAGTTAGTTGTGACAATGTCAGCAAAGTAGGTCTTCCTAGTCCAAGTAGTTTAGTTCCAGGAAGCAGCAGCCAACTAAGTGGGA ATGGAAATAGTGGAACATCAGGACCTAGTGGAAGTACTACCAGCAAAACTACTTCAGAATCCAGCAGCTCTCCCTCAGCATCCCTTAAAG GCCCAACTTCACAAGAATCACAGCTCAATGCTATGAAGCGATTACAGATGGTCAAGAAGAAAGCTGCCCAAAAGAAACTCAAGAAGTAAT GTGGCCAAGTAGGTTTTTGTATCATATTAGCCTAAAGATGAAAGGCTTATTATTATGATATAATCTGTAATACACTGTAATTTAATAAAA |
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FusionGenePPI for MAK_INTS12 |
| 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 |
| MAK | MAK, CDK20, FZR1, APP, SLAMF7, SERINC1, ANAPC11, NDUFB7, PPP2CB, SND1, PVRL3, FLG, ICK, KIAA0556, PRDX2 | INTS12 | INTS1, INTS3, INTS5, INTS6, INTS10, APP, POLR2C, BSG, TAS2R7, KIR2DS2, SLAMF1, ST8SIA1, TGOLN2, ALDH3A2, PPP2CA, PPP2CB, PPP2R1A, VWA9, NELFA, FOXJ2, USP37, APLNR, IL13RA2, EDNRB, ILVBL, ARL13A, MAS1, F2RL1, FZD10, ST6GAL1, DKKL1, KDELR3, GTF2IRD1 |
| - 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 MAK_INTS12 |
| 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 MAK_INTS12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MAK | C3280042 | RETINITIS PIGMENTOSA 62 | 1 | UNIPROT |
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