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Fusion gene ID: 38100 |
FusionGeneSummary for TIMM17A_RASSF5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TIMM17A_RASSF5 | Fusion gene ID: 38100 | Hgene | Tgene | Gene symbol | TIMM17A | RASSF5 | Gene ID | 10440 | 283349 |
| Gene name | translocase of inner mitochondrial membrane 17A | Ras association domain family member 3 | |
| Synonyms | TIM17|TIM17A | RASSF5 | |
| Cytomap | 1q32.1 | 12q14.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial import inner membrane translocase subunit Tim17-Ainner membrane preprotein translocase Tim17amitochondrial inner membrane translocasepreprotein translocasetranslocase of inner mitochondrial membrane 17 homolog A | ras association domain-containing protein 3Ras association (RalGDS/AF-6) domain family 3Ras association (RalGDS/AF-6) domain family member 3 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q99595 | Q8WWW0 | |
| Ensembl transtripts involved in fusion gene | ENST00000367287, ENST00000482943, | ENST00000355294, ENST00000367117, ENST00000304534, ENST00000491368, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 4 X 2=24 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TIMM17A [Title/Abstract] AND RASSF5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not 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 |
| 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 | BRCA | TCGA-BH-A203-01A | TIMM17A | chr1 | 201926702 | + | RASSF5 | chr1 | 206711501 | + |
| * 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 | ENST00000367287 | ENST00000355294 | TIMM17A | chr1 | 201926702 | + | RASSF5 | chr1 | 206711501 | + |
| In-frame | ENST00000367287 | ENST00000367117 | TIMM17A | chr1 | 201926702 | + | RASSF5 | chr1 | 206711501 | + |
| 5CDS-intron | ENST00000367287 | ENST00000304534 | TIMM17A | chr1 | 201926702 | + | RASSF5 | chr1 | 206711501 | + |
| 5CDS-intron | ENST00000367287 | ENST00000491368 | TIMM17A | chr1 | 201926702 | + | RASSF5 | chr1 | 206711501 | + |
| intron-3CDS | ENST00000482943 | ENST00000355294 | TIMM17A | chr1 | 201926702 | + | RASSF5 | chr1 | 206711501 | + |
| intron-3CDS | ENST00000482943 | ENST00000367117 | TIMM17A | chr1 | 201926702 | + | RASSF5 | chr1 | 206711501 | + |
| intron-intron | ENST00000482943 | ENST00000304534 | TIMM17A | chr1 | 201926702 | + | RASSF5 | chr1 | 206711501 | + |
| intron-intron | ENST00000482943 | ENST00000491368 | TIMM17A | chr1 | 201926702 | + | RASSF5 | chr1 | 206711501 | + |
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FusionProtFeatures for TIMM17A_RASSF5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TIMM17A | RASSF5 |
| Essential component of the TIM23 complex, a complex thatmediates the translocation of transit peptide-containing proteinsacross the mitochondrial inner membrane. | Potential tumor suppressor. Seems to be involved inlymphocyte adhesion by linking RAP1A activation upon T-cellreceptor or chemokine stimulation to integrin activation. Isoform2 stimulates lymphocyte polarization and the patch-likedistribution of ITGAL/LFA-1, resulting in an enhanced adhesion toICAM1. Together with RAP1A may participate in regulation ofmicrotubule growth. The association of isoform 2 with activatedRAP1A is required for directional movement of endothelial cellsduring wound healing. May be involved in regulation of Rasapoptotic function. The RASSF5-STK4/MST1 complex may mediate HRASand KRAS induced apoptosis. {ECO:0000269|PubMed:12676952,ECO:0000269|PubMed:12845325, ECO:0000269|PubMed:15569673}. |
| 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 | TIMM17A | chr1:201926702 | chr1:206711501 | ENST00000367287 | + | 3 | 6 | 17_37 | 63 | 172 | Transmembrane | Helical |
| Tgene | >RASSF5 | chr1:201926702 | chr1:206711501 | ENST00000304534 | + | 0 | 5 | 274_364 | -137 | 266 | Domain | Ras-associating |
| Tgene | >RASSF5 | chr1:201926702 | chr1:206711501 | ENST00000304534 | + | 0 | 5 | 366_413 | -137 | 266 | Domain | SARAH |
| Tgene | >RASSF5 | chr1:201926702 | chr1:206711501 | ENST00000355294 | + | 0 | 6 | 274_364 | 152 | 419 | Domain | Ras-associating |
| Tgene | >RASSF5 | chr1:201926702 | chr1:206711501 | ENST00000355294 | + | 0 | 6 | 366_413 | 152 | 419 | Domain | SARAH |
| Tgene | >RASSF5 | chr1:201926702 | chr1:206711501 | ENST00000367117 | + | 0 | 5 | 274_364 | 152 | 337 | Domain | Ras-associating |
| Tgene | >RASSF5 | chr1:201926702 | chr1:206711501 | ENST00000367117 | + | 0 | 5 | 366_413 | 152 | 337 | Domain | SARAH |
| Tgene | >RASSF5 | chr1:201926702 | chr1:206711501 | ENST00000304534 | + | 0 | 5 | 122_170 | -137 | 266 | Zinc finger | Phorbol-ester/DAG-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 |
| Hgene | >TIMM17A | chr1:201926702 | chr1:206711501 | ENST00000367287 | + | 3 | 6 | 113_133 | 63 | 172 | Transmembrane | Helical |
| Hgene | >TIMM17A | chr1:201926702 | chr1:206711501 | ENST00000367287 | + | 3 | 6 | 63_77 | 63 | 172 | Transmembrane | Helical |
| Tgene | RASSF5 | chr1:201926702 | chr1:206711501 | ENST00000355294 | + | 0 | 6 | 122_170 | 152 | 419 | Zinc finger | Phorbol-ester/DAG-type |
| Tgene | RASSF5 | chr1:201926702 | chr1:206711501 | ENST00000367117 | + | 0 | 5 | 122_170 | 152 | 337 | Zinc finger | Phorbol-ester/DAG-type |
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FusionGeneSequence for TIMM17A_RASSF5 |
| 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_TIMM17A_ENST00000367287_chr1_201926702_+_RASSF5_ENST00000355294_chr1_206711501_+_330aa MEEYAREPCPWRIVDDCGGAFTMGTIGGGIFQAIKGFRNSPVGVNHRLRGSLTAIKTRAPQLGDCKFTCHPECRSLIQLDCSQQEGLSRD RPSPESTLTVTFSQNVCKPVEETQRPPTLQEIKQKIDSYNTREKNCLGMKLSEDGTYTGFIKVHLKLRRPVTVPAGIRPQSIYDAIKEVN LAATTDKRTSFYLPLDAIKQLHISSTTTVSEVIQGLLKKFMVVDNPQKFALFKRIHKDGQVLFQKLSIADRPLYLRLLAGPDTEVLSFVL >In-frame_TIMM17A_ENST00000367287_chr1_201926702_+_RASSF5_ENST00000367117_chr1_206711501_+_248aa MEEYAREPCPWRIVDDCGGAFTMGTIGGGIFQAIKGFRNSPVGVNHRLRGSLTAIKTRAPQLGDCKFTCHPECRSLIQLDCSQQEGLSRD RPSPESTLTVTFSQNVCKPVEETQRPPTLQEIKQKIDSYNTREKNCLGMKLSEDGTYTGFIKVHLKLRRPVTVPAGIRPQSIYDAIKEVN |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TIMM17A_ENST00000367287_chr1_201926702_+_RASSF5_ENST00000355294_chr1_206711501_+_990nt ATGGAGGAGTACGCGCGAGAGCCTTGCCCATGGCGAATTGTGGATGACTGTGGTGGGGCCTTTACGATGGGTACCATTGGTGGTGGTATC TTTCAAGCAATCAAAGGTTTTCGCAATTCTCCAGTGGGAGTAAACCACAGACTACGAGGGAGTTTGACAGCTATTAAAACCAGGGCTCCA CAGTTAGGAGACTGTAAATTCACCTGTCACCCAGAATGCCGCAGCCTGATCCAGTTGGACTGCAGTCAGCAGGAGGGTTTATCCCGGGAC AGACCCTCTCCAGAAAGCACCCTCACCGTGACCTTCAGCCAGAATGTCTGTAAACCTGTGGAGGAGACACAGCGCCCGCCCACACTGCAG GAGATCAAGCAGAAGATCGACAGCTACAACACGCGAGAGAAGAACTGCCTGGGCATGAAACTGAGTGAAGACGGCACCTACACGGGTTTC ATCAAAGTGCATCTGAAACTCCGGCGGCCTGTGACGGTGCCTGCTGGGATCCGGCCCCAGTCCATCTATGATGCCATCAAGGAGGTGAAC CTGGCGGCTACCACGGACAAGCGGACATCCTTCTACCTGCCCCTAGATGCCATCAAGCAGCTGCACATCAGCAGCACCACCACCGTCAGT GAGGTCATCCAGGGGCTGCTCAAGAAGTTCATGGTTGTGGACAATCCCCAGAAGTTTGCACTTTTTAAGCGGATACACAAGGACGGACAA GTGCTCTTCCAGAAACTCTCCATTGCTGACCGCCCCCTCTACCTGCGCCTGCTTGCTGGGCCTGACACGGAGGTCCTCAGCTTTGTGCTA AAGGAGAATGAAACTGGAGAGGTAGAGTGGGATGCCTTCTCCATCCCTGAACTTCAGAACTTCCTAACAATCCTGGAAAAAGAGGAGCAG GACAAAATCCAACAAGTGCAAAAGAAGTATGACAAGTTTAGGCAGAAACTGGAGGAGGCCTTAAGAGAATCCCAGGGCAAACCTGGGTAA >In-frame_TIMM17A_ENST00000367287_chr1_201926702_+_RASSF5_ENST00000367117_chr1_206711501_+_744nt ATGGAGGAGTACGCGCGAGAGCCTTGCCCATGGCGAATTGTGGATGACTGTGGTGGGGCCTTTACGATGGGTACCATTGGTGGTGGTATC TTTCAAGCAATCAAAGGTTTTCGCAATTCTCCAGTGGGAGTAAACCACAGACTACGAGGGAGTTTGACAGCTATTAAAACCAGGGCTCCA CAGTTAGGAGACTGTAAATTCACCTGTCACCCAGAATGCCGCAGCCTGATCCAGTTGGACTGCAGTCAGCAGGAGGGTTTATCCCGGGAC AGACCCTCTCCAGAAAGCACCCTCACCGTGACCTTCAGCCAGAATGTCTGTAAACCTGTGGAGGAGACACAGCGCCCGCCCACACTGCAG GAGATCAAGCAGAAGATCGACAGCTACAACACGCGAGAGAAGAACTGCCTGGGCATGAAACTGAGTGAAGACGGCACCTACACGGGTTTC ATCAAAGTGCATCTGAAACTCCGGCGGCCTGTGACGGTGCCTGCTGGGATCCGGCCCCAGTCCATCTATGATGCCATCAAGGAGGTGAAC CTGGCGGCTACCACGGACAAGCGGACATCCTTCTACCTGCCCCTAGATGCCATCAAGCAGCTGCACATCAGCAGCACCACCACCGTCAGT GAGGTCATCCAGGGGCTGCTCAAGAAGTTCATGGTTGTGGACAATCCCCAGAAGTTTGCACTTTTTAAGCGGATACACAAGGACGGACAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TIMM17A_ENST00000367287_chr1_201926702_+_RASSF5_ENST00000355294_chr1_206711501_+_1760nt AGCTTGCCCGGCATCACTCGCGGCATTGGAGTCAAGATGGAGGAGTACGCGCGAGAGCCTTGCCCATGGCGAATTGTGGATGACTGTGGT GGGGCCTTTACGATGGGTACCATTGGTGGTGGTATCTTTCAAGCAATCAAAGGTTTTCGCAATTCTCCAGTGGGAGTAAACCACAGACTA CGAGGGAGTTTGACAGCTATTAAAACCAGGGCTCCACAGTTAGGAGACTGTAAATTCACCTGTCACCCAGAATGCCGCAGCCTGATCCAG TTGGACTGCAGTCAGCAGGAGGGTTTATCCCGGGACAGACCCTCTCCAGAAAGCACCCTCACCGTGACCTTCAGCCAGAATGTCTGTAAA CCTGTGGAGGAGACACAGCGCCCGCCCACACTGCAGGAGATCAAGCAGAAGATCGACAGCTACAACACGCGAGAGAAGAACTGCCTGGGC ATGAAACTGAGTGAAGACGGCACCTACACGGGTTTCATCAAAGTGCATCTGAAACTCCGGCGGCCTGTGACGGTGCCTGCTGGGATCCGG CCCCAGTCCATCTATGATGCCATCAAGGAGGTGAACCTGGCGGCTACCACGGACAAGCGGACATCCTTCTACCTGCCCCTAGATGCCATC AAGCAGCTGCACATCAGCAGCACCACCACCGTCAGTGAGGTCATCCAGGGGCTGCTCAAGAAGTTCATGGTTGTGGACAATCCCCAGAAG TTTGCACTTTTTAAGCGGATACACAAGGACGGACAAGTGCTCTTCCAGAAACTCTCCATTGCTGACCGCCCCCTCTACCTGCGCCTGCTT GCTGGGCCTGACACGGAGGTCCTCAGCTTTGTGCTAAAGGAGAATGAAACTGGAGAGGTAGAGTGGGATGCCTTCTCCATCCCTGAACTT CAGAACTTCCTAACAATCCTGGAAAAAGAGGAGCAGGACAAAATCCAACAAGTGCAAAAGAAGTATGACAAGTTTAGGCAGAAACTGGAG GAGGCCTTAAGAGAATCCCAGGGCAAACCTGGGTAACCGGTCCTGCTTCCTCTCCTCCTGGTGCATTCAGATTTATTTGTATTATTAATT ATTATTTTGCAACAGACACTTTTTCTCAGGACATCTCTGGCAGGTGCATTTGTGCCTGCCCAGCAGTTCCAGCTGTGGCAAAAGTCTCTT CCATGGACAAGTGTTTGCATGGGGGTTCAGCTGTGCCCGCCCCCAGGCTGTGCCCCACCACAGATTCTGCCAAGGATCAGAACTCATGTG AAACAAACAGCTGACGTCCTCTCTCGATCTGCAAGCCTTTCACCAACCAAATAGTTGCCTCTCTCGTCACCAAACTGGAACCTCACACCA GCCGGCAAAGGAAGGAAGAAAGGTTTTAGAGCTGTGTGTTCTTTCTCTGGCTTTGATTCTTCTTTGAGTTCTCTTACTTGCCACGTACAG GACCATTATTTATGAGTGAAAAGTTGTAGCACATTCCTTTTGCAGGTCTGAGCTAAGCCCCTGAAAGCAGGGTAATGCTCATAAAAGGAC TGTTCCCGCGGCCCCAAGGTGCCTGTTGTTCACACTTAAGGGAAGTTTATAAAGCTACTGGCCCCAGATGCTCAGGGTAAGGAGCACCAA AGCTGAGGCTGGCTCAGAGATCTCCAGAGAAGCTGCAGCCTGCCCTGGCCCTGGCTCTGGCCCTGGCCCACATTGCACATGGAAACCCAA >In-frame_TIMM17A_ENST00000367287_chr1_201926702_+_RASSF5_ENST00000367117_chr1_206711501_+_1644nt AGCTTGCCCGGCATCACTCGCGGCATTGGAGTCAAGATGGAGGAGTACGCGCGAGAGCCTTGCCCATGGCGAATTGTGGATGACTGTGGT GGGGCCTTTACGATGGGTACCATTGGTGGTGGTATCTTTCAAGCAATCAAAGGTTTTCGCAATTCTCCAGTGGGAGTAAACCACAGACTA CGAGGGAGTTTGACAGCTATTAAAACCAGGGCTCCACAGTTAGGAGACTGTAAATTCACCTGTCACCCAGAATGCCGCAGCCTGATCCAG TTGGACTGCAGTCAGCAGGAGGGTTTATCCCGGGACAGACCCTCTCCAGAAAGCACCCTCACCGTGACCTTCAGCCAGAATGTCTGTAAA CCTGTGGAGGAGACACAGCGCCCGCCCACACTGCAGGAGATCAAGCAGAAGATCGACAGCTACAACACGCGAGAGAAGAACTGCCTGGGC ATGAAACTGAGTGAAGACGGCACCTACACGGGTTTCATCAAAGTGCATCTGAAACTCCGGCGGCCTGTGACGGTGCCTGCTGGGATCCGG CCCCAGTCCATCTATGATGCCATCAAGGAGGTGAACCTGGCGGCTACCACGGACAAGCGGACATCCTTCTACCTGCCCCTAGATGCCATC AAGCAGCTGCACATCAGCAGCACCACCACCGTCAGTGAGGTCATCCAGGGGCTGCTCAAGAAGTTCATGGTTGTGGACAATCCCCAGAAG TTTGCACTTTTTAAGCGGATACACAAGGACGGACAAGTGGGATGCCTTCTCCATCCCTGAACTTCAGAACTTCCTAACAATCCTGGAAAA AGAGGAGCAGGACAAAATCCAACAAGTGCAAAAGAAGTATGACAAGTTTAGGCAGAAACTGGAGGAGGCCTTAAGAGAATCCCAGGGCAA ACCTGGGTAACCGGTCCTGCTTCCTCTCCTCCTGGTGCATTCAGATTTATTTGTATTATTAATTATTATTTTGCAACAGACACTTTTTCT CAGGACATCTCTGGCAGGTGCATTTGTGCCTGCCCAGCAGTTCCAGCTGTGGCAAAAGTCTCTTCCATGGACAAGTGTTTGCATGGGGGT TCAGCTGTGCCCGCCCCCAGGCTGTGCCCCACCACAGATTCTGCCAAGGATCAGAACTCATGTGAAACAAACAGCTGACGTCCTCTCTCG ATCTGCAAGCCTTTCACCAACCAAATAGTTGCCTCTCTCGTCACCAAACTGGAACCTCACACCAGCCGGCAAAGGAAGGAAGAAAGGTTT TAGAGCTGTGTGTTCTTTCTCTGGCTTTGATTCTTCTTTGAGTTCTCTTACTTGCCACGTACAGGACCATTATTTATGAGTGAAAAGTTG TAGCACATTCCTTTTGCAGGTCTGAGCTAAGCCCCTGAAAGCAGGGTAATGCTCATAAAAGGACTGTTCCCGCGGCCCCAAGGTGCCTGT TGTTCACACTTAAGGGAAGTTTATAAAGCTACTGGCCCCAGATGCTCAGGGTAAGGAGCACCAAAGCTGAGGCTGGCTCAGAGATCTCCA GAGAAGCTGCAGCCTGCCCTGGCCCTGGCTCTGGCCCTGGCCCACATTGCACATGGAAACCCAAAGGCATATATCTGCGTATGTGTGGTA |
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FusionGenePPI for TIMM17A_RASSF5 |
| 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 |
| TIMM17A | TIMM44, PAM16, DNAJC19, TUBA1A, SRSF3, SFXN3, DNAJC15, DUSP22, P2RX5, ELOVL5, ROMO1, TRIM25 | RASSF5 | HRAS, MRAS, RASSF1, RASSF2, KRAS, RAP2A, RRAS, RASSF5, MAP1LC3A, MAP1LC3B, MAP1S, STK4, MAP1B, STK3, FLNC, ERP44, AGL, KCTD12, HIPK1, MDM2, UBQLN1, APPBP2, ITCH, KPNB1, ADH6, LSM7, MOB1A, MOB1B, BTRC, SMAD4, RABIF, RAP1B, RAP2B, REL, TRAF1, TRAF2, MYLIP, VPS28, AMOTL2, KRTAP4-2, KRT40 |
| - 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 TIMM17A_RASSF5 |
| 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 TIMM17A_RASSF5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RASSF5 | C0022665 | Kidney Neoplasm | 1 | CTD_human |
| Tgene | RASSF5 | C0027819 | Neuroblastoma | 1 | CTD_human |
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