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Fusion gene ID: 31 |
FusionGeneSummary for AAK1_C2orf42 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AAK1_C2orf42 | Fusion gene ID: 31 | Hgene | Tgene | Gene symbol | AAK1 | C2orf42 | Gene ID | 22848 | 54980 |
| Gene name | AP2 associated kinase 1 | chromosome 2 open reading frame 42 | |
| Synonyms | - | - | |
| Cytomap | 2p13.3 | 2p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AP2-associated protein kinase 1adaptor-associated kinase 1 | uncharacterized protein C2orf42 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q2M2I8 | Q9NWW7 | |
| Ensembl transtripts involved in fusion gene | ENST00000409068, ENST00000409085, ENST00000406297, ENST00000470281, | ENST00000264434, ENST00000420306, ENST00000470096, | |
| Fusion gene scores | * DoF score | 9 X 6 X 7=378 | 2 X 2 X 2=8 |
| # samples | 9 | 2 | |
| ** MAII score | log2(9/378*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: AAK1 [Title/Abstract] AND C2orf42 [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 | AAK1 | GO:0006468 | protein phosphorylation | 17494869|18657069 |
| Hgene | AAK1 | GO:0032880 | regulation of protein localization | 18657069 |
| Hgene | AAK1 | GO:0045747 | positive regulation of Notch signaling pathway | 21464124 |
| Hgene | AAK1 | GO:0050821 | protein stabilization | 21464124 |
| Hgene | AAK1 | GO:2000369 | regulation of clathrin-dependent endocytosis | 18657069 |
| 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 | OV | TCGA-24-1423-01A | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| * 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 | ENST00000409068 | ENST00000264434 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| Frame-shift | ENST00000409068 | ENST00000420306 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| 5CDS-intron | ENST00000409068 | ENST00000470096 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| In-frame | ENST00000409085 | ENST00000264434 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| Frame-shift | ENST00000409085 | ENST00000420306 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| 5CDS-intron | ENST00000409085 | ENST00000470096 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| In-frame | ENST00000406297 | ENST00000264434 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| Frame-shift | ENST00000406297 | ENST00000420306 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| 5CDS-intron | ENST00000406297 | ENST00000470096 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| intron-3CDS | ENST00000470281 | ENST00000264434 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| intron-3CDS | ENST00000470281 | ENST00000420306 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
| intron-intron | ENST00000470281 | ENST00000470096 | AAK1 | chr2 | 69783992 | - | C2orf42 | chr2 | 70377696 | - |
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FusionProtFeatures for AAK1_C2orf42 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AAK1 | C2orf42 |
| Regulates clathrin-mediated endocytosis byphosphorylating the AP2M1/mu2 subunit of the adaptor proteincomplex 2 (AP-2) which ensures high affinity binding of AP-2 tocargo membrane proteins during the initial stages of endocytosis.Isoform 1 and isoform 2 display similar levels of kinase activitytowards AP2M1. Regulates phosphorylation of other AP-2 subunits aswell as AP-2 localization and AP-2-mediated internalization ofligand complexes. Phosphorylates NUMB and regulates its cellularlocalization, promoting NUMB localization to endosomes. Binds toand stabilizes the activated form of NOTCH1, increases itslocalization in endosomes and regulates its transcriptionalactivity. {ECO:0000269|PubMed:12952931,ECO:0000269|PubMed:17494869, ECO:0000269|PubMed:18657069,ECO:0000269|PubMed:21464124}. |
| 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 |
| Hgene | AAK1 | chr2:69783992 | chr2:70377696 | ENST00000406297 | - | 3 | 18 | 12_42 | 94 | 864 | Compositional bias | Note=Gly-rich |
| Hgene | AAK1 | chr2:69783992 | chr2:70377696 | ENST00000409085 | - | 3 | 22 | 12_42 | 94 | 962 | Compositional bias | Note=Gly-rich |
| Hgene | AAK1 | chr2:69783992 | chr2:70377696 | ENST00000406297 | - | 3 | 18 | 52_60 | 94 | 864 | Nucleotide binding | ATP |
| Hgene | AAK1 | chr2:69783992 | chr2:70377696 | ENST00000409085 | - | 3 | 22 | 52_60 | 94 | 962 | Nucleotide binding | ATP |
| - 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 |
| Hgene | >AAK1 | chr2:69783992 | chr2:70377696 | ENST00000406297 | - | 3 | 18 | 397_614 | 94 | 864 | Compositional bias | Note=Gln-rich |
| Hgene | >AAK1 | chr2:69783992 | chr2:70377696 | ENST00000406297 | - | 3 | 18 | 658_663 | 94 | 864 | Compositional bias | Note=Poly-Ala |
| Hgene | >AAK1 | chr2:69783992 | chr2:70377696 | ENST00000409085 | - | 3 | 22 | 397_614 | 94 | 962 | Compositional bias | Note=Gln-rich |
| Hgene | >AAK1 | chr2:69783992 | chr2:70377696 | ENST00000409085 | - | 3 | 22 | 658_663 | 94 | 962 | Compositional bias | Note=Poly-Ala |
| Hgene | >AAK1 | chr2:69783992 | chr2:70377696 | ENST00000406297 | - | 3 | 18 | 46_315 | 94 | 864 | Domain | Protein kinase |
| Hgene | >AAK1 | chr2:69783992 | chr2:70377696 | ENST00000409085 | - | 3 | 22 | 46_315 | 94 | 962 | Domain | Protein kinase |
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FusionGeneSequence for AAK1_C2orf42 |
| 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_AAK1_ENST00000409068_chr2_69783992_-_C2orf42_ENST00000264434_chr2_70377696_-_163aa MKKFFDSRREQGGSGLGSGSSGGGGSTSGLGSGYIGRVFGIGRQQVTVDEVLAEGGFAIVFLVRTSNGMKCALKRMFVNNEHDLQVCKRE >In-frame_AAK1_ENST00000409085_chr2_69783992_-_C2orf42_ENST00000264434_chr2_70377696_-_163aa MKKFFDSRREQGGSGLGSGSSGGGGSTSGLGSGYIGRVFGIGRQQVTVDEVLAEGGFAIVFLVRTSNGMKCALKRMFVNNEHDLQVCKRE >In-frame_AAK1_ENST00000406297_chr2_69783992_-_C2orf42_ENST00000264434_chr2_70377696_-_163aa MKKFFDSRREQGGSGLGSGSSGGGGSTSGLGSGYIGRVFGIGRQQVTVDEVLAEGGFAIVFLVRTSNGMKCALKRMFVNNEHDLQVCKRE |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_AAK1_ENST00000409068_chr2_69783992_-_C2orf42_ENST00000264434_chr2_70377696_-_491nt ATGAAGAAGTTTTTCGACTCCCGGCGAGAGCAGGGCGGCTCTGGCCTGGGCTCCGGCTCCAGCGGAGGAGGGGGCAGCACCTCGGGCCTG GGCAGTGGCTACATCGGAAGAGTCTTCGGCATCGGGCGACAGCAGGTCACAGTGGACGAGGTGTTGGCGGAAGGTGGATTTGCTATTGTA TTTCTGGTGAGGACAAGCAATGGGATGAAATGTGCCTTGAAACGCATGTTTGTCAACAATGAGCATGATCTCCAGGTGTGCAAGAGAGAA ATCCAGATAATGGCAACACTTCCCCAGATCAAAAGGAGCCAACACCTTTCATCATCGAGTGGATCCCAGATATCCTTCCCCAATCTAAGA TTGGCGAGCTGCGGATCAAGTTTGAGTATGGCCACCACCGGAATGGGCATGTGGCGGAGTACCAAGACCAGCGGCCCCCCTTGGACCAGC >In-frame_AAK1_ENST00000409085_chr2_69783992_-_C2orf42_ENST00000264434_chr2_70377696_-_491nt ATGAAGAAGTTTTTCGACTCCCGGCGAGAGCAGGGCGGCTCTGGCCTGGGCTCCGGCTCCAGCGGAGGAGGGGGCAGCACCTCGGGCCTG GGCAGTGGCTACATCGGAAGAGTCTTCGGCATCGGGCGACAGCAGGTCACAGTGGACGAGGTGTTGGCGGAAGGTGGATTTGCTATTGTA TTTCTGGTGAGGACAAGCAATGGGATGAAATGTGCCTTGAAACGCATGTTTGTCAACAATGAGCATGATCTCCAGGTGTGCAAGAGAGAA ATCCAGATAATGGCAACACTTCCCCAGATCAAAAGGAGCCAACACCTTTCATCATCGAGTGGATCCCAGATATCCTTCCCCAATCTAAGA TTGGCGAGCTGCGGATCAAGTTTGAGTATGGCCACCACCGGAATGGGCATGTGGCGGAGTACCAAGACCAGCGGCCCCCCTTGGACCAGC >In-frame_AAK1_ENST00000406297_chr2_69783992_-_C2orf42_ENST00000264434_chr2_70377696_-_491nt ATGAAGAAGTTTTTCGACTCCCGGCGAGAGCAGGGCGGCTCTGGCCTGGGCTCCGGCTCCAGCGGAGGAGGGGGCAGCACCTCGGGCCTG GGCAGTGGCTACATCGGAAGAGTCTTCGGCATCGGGCGACAGCAGGTCACAGTGGACGAGGTGTTGGCGGAAGGTGGATTTGCTATTGTA TTTCTGGTGAGGACAAGCAATGGGATGAAATGTGCCTTGAAACGCATGTTTGTCAACAATGAGCATGATCTCCAGGTGTGCAAGAGAGAA ATCCAGATAATGGCAACACTTCCCCAGATCAAAAGGAGCCAACACCTTTCATCATCGAGTGGATCCCAGATATCCTTCCCCAATCTAAGA TTGGCGAGCTGCGGATCAAGTTTGAGTATGGCCACCACCGGAATGGGCATGTGGCGGAGTACCAAGACCAGCGGCCCCCCTTGGACCAGC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_AAK1_ENST00000409068_chr2_69783992_-_C2orf42_ENST00000264434_chr2_70377696_-_1281nt CTCTGCGTCGCAGGCCGGCCCGGCGGCCGTGACAATGTCGCGGGGCTGGTAGCAGGGCGCCGGCCGCCGAGCCGTCTCAAGTTTAAACTT ACACGAATCGCTTTCTGGAGGAGGAGGGGACCCGCTGCGCGATTGACACGCATATTCCTATAGGCATCCTCCCTCAGCCCCCACCCCCAC GGCCGGATTCGGGTGGCTCCTCTCCGAGGTGAAATCTGAGAAGAAATCCTTGGATCTCTTTTCTTAAAAAAAAAAAAAAAAAAAAAAAAT CTAGAAACCATCGGTATTTTGCTTTGCTGCTCCCTATTCGCAAGATGAAGAAGTTTTTCGACTCCCGGCGAGAGCAGGGCGGCTCTGGCC TGGGCTCCGGCTCCAGCGGAGGAGGGGGCAGCACCTCGGGCCTGGGCAGTGGCTACATCGGAAGAGTCTTCGGCATCGGGCGACAGCAGG TCACAGTGGACGAGGTGTTGGCGGAAGGTGGATTTGCTATTGTATTTCTGGTGAGGACAAGCAATGGGATGAAATGTGCCTTGAAACGCA TGTTTGTCAACAATGAGCATGATCTCCAGGTGTGCAAGAGAGAAATCCAGATAATGGCAACACTTCCCCAGATCAAAAGGAGCCAACACC TTTCATCATCGAGTGGATCCCAGATATCCTTCCCCAATCTAAGATTGGCGAGCTGCGGATCAAGTTTGAGTATGGCCACCACCGGAATGG GCATGTGGCGGAGTACCAAGACCAGCGGCCCCCCTTGGACCAGCCCTTGGAACTGGCCCCTCTGACCACTATTACTTTCCCTTAAAGCAA AACAAGATAATAATCTTTTGCTGCTTAATTTGCACATCCCCACCCCTTGACAACTTTAAATGCTAGTTAGGCACTTAGATGGCCCTGTTC CTTGGTAAACTGCTCTTAGCTAAGATGCAAATTCTCAGTGCTTTCAAGTGGATTCTGTTGAAGAAAATCTCTTGTAAATAGCCTTTTTGA TGCTGCTGTGTACAGTCTTCATTATGCATTGGGCAGTATTTCTGGCTAGAGTTTTAAAAGGAACAGAAAGAAAACCAGCTTATTTTCCTT CTTACGGACTCATCTTTAGCGTTTATTTCAACCTTTTGCTAATTCTCTGAGAAATCTGCAGCACTCAGCCATACACCAACAGTGTTGGAA AGTTAACACCCTGGTTAGGGCAGAATGTTAAAGACCATCTTGGCAGAGTTCCAGCCACGCTCTTTATTCTGTTCTCAAATAAAGCAGTGT >In-frame_AAK1_ENST00000409085_chr2_69783992_-_C2orf42_ENST00000264434_chr2_70377696_-_1344nt GATCAGCTGGCGGGCGGGCGGGAGCCGAGCGCGGCCCCGGCTCTCGCTGCAGCGCCGCCTCTTCTCTGCGTCGCAGGCCGGCCCGGCGGC CGTGACAATGTCGCGGGGCTGGTAGCAGGGCGCCGGCCGCCGAGCCGTCTCAAGTTTAAACTTACACGAATCGCTTTCTGGAGGAGGAGG GGACCCGCTGCGCGATTGACACGCATATTCCTATAGGCATCCTCCCTCAGCCCCCACCCCCACGGCCGGATTCGGGTGGCTCCTCTCCGA GGTGAAATCTGAGAAGAAATCCTTGGATCTCTTTTCTTAAAAAAAAAAAAAAAAAAAAAAAATCTAGAAACCATCGGTATTTTGCTTTGC TGCTCCCTATTCGCAAGATGAAGAAGTTTTTCGACTCCCGGCGAGAGCAGGGCGGCTCTGGCCTGGGCTCCGGCTCCAGCGGAGGAGGGG GCAGCACCTCGGGCCTGGGCAGTGGCTACATCGGAAGAGTCTTCGGCATCGGGCGACAGCAGGTCACAGTGGACGAGGTGTTGGCGGAAG GTGGATTTGCTATTGTATTTCTGGTGAGGACAAGCAATGGGATGAAATGTGCCTTGAAACGCATGTTTGTCAACAATGAGCATGATCTCC AGGTGTGCAAGAGAGAAATCCAGATAATGGCAACACTTCCCCAGATCAAAAGGAGCCAACACCTTTCATCATCGAGTGGATCCCAGATAT CCTTCCCCAATCTAAGATTGGCGAGCTGCGGATCAAGTTTGAGTATGGCCACCACCGGAATGGGCATGTGGCGGAGTACCAAGACCAGCG GCCCCCCTTGGACCAGCCCTTGGAACTGGCCCCTCTGACCACTATTACTTTCCCTTAAAGCAAAACAAGATAATAATCTTTTGCTGCTTA ATTTGCACATCCCCACCCCTTGACAACTTTAAATGCTAGTTAGGCACTTAGATGGCCCTGTTCCTTGGTAAACTGCTCTTAGCTAAGATG CAAATTCTCAGTGCTTTCAAGTGGATTCTGTTGAAGAAAATCTCTTGTAAATAGCCTTTTTGATGCTGCTGTGTACAGTCTTCATTATGC ATTGGGCAGTATTTCTGGCTAGAGTTTTAAAAGGAACAGAAAGAAAACCAGCTTATTTTCCTTCTTACGGACTCATCTTTAGCGTTTATT TCAACCTTTTGCTAATTCTCTGAGAAATCTGCAGCACTCAGCCATACACCAACAGTGTTGGAAAGTTAACACCCTGGTTAGGGCAGAATG >In-frame_AAK1_ENST00000406297_chr2_69783992_-_C2orf42_ENST00000264434_chr2_70377696_-_1344nt GATCAGCTGGCGGGCGGGCGGGAGCCGAGCGCGGCCCCGGCTCTCGCTGCAGCGCCGCCTCTTCTCTGCGTCGCAGGCCGGCCCGGCGGC CGTGACAATGTCGCGGGGCTGGTAGCAGGGCGCCGGCCGCCGAGCCGTCTCAAGTTTAAACTTACACGAATCGCTTTCTGGAGGAGGAGG GGACCCGCTGCGCGATTGACACGCATATTCCTATAGGCATCCTCCCTCAGCCCCCACCCCCACGGCCGGATTCGGGTGGCTCCTCTCCGA GGTGAAATCTGAGAAGAAATCCTTGGATCTCTTTTCTTAAAAAAAAAAAAAAAAAAAAAAAATCTAGAAACCATCGGTATTTTGCTTTGC TGCTCCCTATTCGCAAGATGAAGAAGTTTTTCGACTCCCGGCGAGAGCAGGGCGGCTCTGGCCTGGGCTCCGGCTCCAGCGGAGGAGGGG GCAGCACCTCGGGCCTGGGCAGTGGCTACATCGGAAGAGTCTTCGGCATCGGGCGACAGCAGGTCACAGTGGACGAGGTGTTGGCGGAAG GTGGATTTGCTATTGTATTTCTGGTGAGGACAAGCAATGGGATGAAATGTGCCTTGAAACGCATGTTTGTCAACAATGAGCATGATCTCC AGGTGTGCAAGAGAGAAATCCAGATAATGGCAACACTTCCCCAGATCAAAAGGAGCCAACACCTTTCATCATCGAGTGGATCCCAGATAT CCTTCCCCAATCTAAGATTGGCGAGCTGCGGATCAAGTTTGAGTATGGCCACCACCGGAATGGGCATGTGGCGGAGTACCAAGACCAGCG GCCCCCCTTGGACCAGCCCTTGGAACTGGCCCCTCTGACCACTATTACTTTCCCTTAAAGCAAAACAAGATAATAATCTTTTGCTGCTTA ATTTGCACATCCCCACCCCTTGACAACTTTAAATGCTAGTTAGGCACTTAGATGGCCCTGTTCCTTGGTAAACTGCTCTTAGCTAAGATG CAAATTCTCAGTGCTTTCAAGTGGATTCTGTTGAAGAAAATCTCTTGTAAATAGCCTTTTTGATGCTGCTGTGTACAGTCTTCATTATGC ATTGGGCAGTATTTCTGGCTAGAGTTTTAAAAGGAACAGAAAGAAAACCAGCTTATTTTCCTTCTTACGGACTCATCTTTAGCGTTTATT TCAACCTTTTGCTAATTCTCTGAGAAATCTGCAGCACTCAGCCATACACCAACAGTGTTGGAAAGTTAACACCCTGGTTAGGGCAGAATG |
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FusionGenePPI for AAK1_C2orf42 |
| 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 |
| AAK1 | AP2M1, ATP13A2, APP, AP2A1, AP2B1, NTRK1, DYNLT1, XPO1, CLTB, CLTC, GAK, HSPA5, GTSE1, ANLN, CDH1, AP2S1, REPS1, RUNDC3A, RALBP1, PLEC, PPIP5K2, SEC24B, CCDC88A, EYA4, UBE2D2, LUZP1, URGCP, NUP88, DVL3, QSER1, WNK1 | C2orf42 | ECT2, PAXIP1, ALAS1 |
| - 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 AAK1_C2orf42 |
| 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 AAK1_C2orf42 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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