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Fusion gene ID: 9755 |
FusionGeneSummary for DENND6A_FHIT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DENND6A_FHIT | Fusion gene ID: 9755 | Hgene | Tgene | Gene symbol | DENND6A | FHIT | Gene ID | 201627 | 2272 |
| Gene name | DENN domain containing 6A | fragile histidine triad | |
| Synonyms | AFI1A|FAM116A | AP3Aase|FRA3B | |
| Cytomap | 3p14.3 | 3p14.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein DENND6ADENN domain-containing protein 6ADENN/MADD domain containing 6Afamily with sequence similarity 116, member Aprotein FAM116A | bis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q8IWF6 | P49789 | |
| Ensembl transtripts involved in fusion gene | ENST00000311128, | ENST00000476844, ENST00000492590, ENST00000466788, ENST00000468189, ENST00000341848, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 17 X 7 X 10=1190 |
| # samples | 1 | 20 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(20/1190*10)=-2.57288966842058 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DENND6A [Title/Abstract] AND FHIT [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 |
| Hgene | DENND6A | GO:2000049 | positive regulation of cell-cell adhesion mediated by cadherin | 22595670 |
| Tgene | FHIT | GO:0006163 | purine nucleotide metabolic process | 9323207 |
| 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 | LD | PRAD | TCGA-YL-A9WL-01A | DENND6A | chr3 | 57678509 | - | FHIT | chr3 | 59908140 | - |
| * 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 | ENST00000311128 | ENST00000476844 | DENND6A | chr3 | 57678509 | - | FHIT | chr3 | 59908140 | - |
| In-frame | ENST00000311128 | ENST00000492590 | DENND6A | chr3 | 57678509 | - | FHIT | chr3 | 59908140 | - |
| 5CDS-5UTR | ENST00000311128 | ENST00000466788 | DENND6A | chr3 | 57678509 | - | FHIT | chr3 | 59908140 | - |
| 5CDS-5UTR | ENST00000311128 | ENST00000468189 | DENND6A | chr3 | 57678509 | - | FHIT | chr3 | 59908140 | - |
| 5CDS-5UTR | ENST00000311128 | ENST00000341848 | DENND6A | chr3 | 57678509 | - | FHIT | chr3 | 59908140 | - |
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FusionProtFeatures for DENND6A_FHIT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DENND6A | FHIT |
| Guanine nucleotide exchange factor (GEF) for RAB14.Component of an endocytic recycling pathway that is required forthe control of ADAM10 transport, shedding of N-cadherin/CDH2 byADAM9 or ADAM10 and regulation of cell-cell junctions. Requiredfor RAB14 recruitment to recycling endosomes.{ECO:0000269|PubMed:22595670}. | Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A)to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activitywith ATP. Modulates transcriptional activation by CTNNB1 andthereby contributes to regulate the expression of genes essentialfor cell proliferation and survival, such as CCND1 and BIRC5.Plays a role in the induction of apoptosis via SRC and AKT1signaling pathways. Inhibits MDM2-mediated proteasomal degradationof p53/TP53 and thereby plays a role in p53/TP53-mediatedapoptosis. Induction of apoptosis depends on the ability of FHITto bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or relatedcompounds, but does not require its catalytic activity, it may inpart come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calciumuptake. Functions as tumor suppressor.{ECO:0000269|PubMed:12574506, ECO:0000269|PubMed:15313915,ECO:0000269|PubMed:16407838, ECO:0000269|PubMed:18077326,ECO:0000269|PubMed:19622739, ECO:0000269|PubMed:8794732,ECO:0000269|PubMed:9323207}. |
| 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 | >FHIT | chr3:57678509 | chr3:59908140 | ENST00000341848 | - | 2 | 5 | 94_98 | 93 | 148 | Motif | Histidine triad motif |
| Tgene | >FHIT | chr3:57678509 | chr3:59908140 | ENST00000468189 | - | 6 | 9 | 94_98 | 93 | 148 | Motif | Histidine triad motif |
| Tgene | >FHIT | chr3:57678509 | chr3:59908140 | ENST00000476844 | - | 6 | 10 | 94_98 | 93 | 214 | Motif | Histidine triad motif |
| Tgene | >FHIT | chr3:57678509 | chr3:59908140 | ENST00000492590 | - | 6 | 10 | 94_98 | 93 | 205 | Motif | Histidine triad motif |
| - 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 | >DENND6A | chr3:57678509 | chr3:59908140 | ENST00000311128 | - | 1 | 20 | 273_393 | 79 | 609 | Domain | cDENN |
| Hgene | >DENND6A | chr3:57678509 | chr3:59908140 | ENST00000311128 | - | 1 | 20 | 395_528 | 79 | 609 | Domain | dDENN |
| Hgene | >DENND6A | chr3:57678509 | chr3:59908140 | ENST00000311128 | - | 1 | 20 | 63_247 | 79 | 609 | Domain | uDENN |
| Tgene | FHIT | chr3:57678509 | chr3:59908140 | ENST00000341848 | - | 2 | 5 | 2_109 | 93 | 148 | Domain | HIT |
| Tgene | FHIT | chr3:57678509 | chr3:59908140 | ENST00000468189 | - | 6 | 9 | 2_109 | 93 | 148 | Domain | HIT |
| Tgene | FHIT | chr3:57678509 | chr3:59908140 | ENST00000476844 | - | 6 | 10 | 2_109 | 93 | 214 | Domain | HIT |
| Tgene | FHIT | chr3:57678509 | chr3:59908140 | ENST00000492590 | - | 6 | 10 | 2_109 | 93 | 205 | Domain | HIT |
| Tgene | FHIT | chr3:57678509 | chr3:59908140 | ENST00000341848 | - | 2 | 5 | 89_92 | 93 | 148 | Nucleotide binding | Substrate |
| Tgene | FHIT | chr3:57678509 | chr3:59908140 | ENST00000468189 | - | 6 | 9 | 89_92 | 93 | 148 | Nucleotide binding | Substrate |
| Tgene | FHIT | chr3:57678509 | chr3:59908140 | ENST00000476844 | - | 6 | 10 | 89_92 | 93 | 214 | Nucleotide binding | Substrate |
| Tgene | FHIT | chr3:57678509 | chr3:59908140 | ENST00000492590 | - | 6 | 10 | 89_92 | 93 | 205 | Nucleotide binding | Substrate |
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FusionGeneSequence for DENND6A_FHIT |
| 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_DENND6A_ENST00000311128_chr3_57678509_-_FHIT_ENST00000476844_chr3_59908140_-_134aa MALRGPAGLGPGSRRPLDEAVAGAEGREAPALVAAGGAPEDDEEDDGRGRGLLRWDSFSAWLHCVCVVGFDLELGQAVEHVHVHVLPRKA >In-frame_DENND6A_ENST00000311128_chr3_57678509_-_FHIT_ENST00000492590_chr3_59908140_-_134aa MALRGPAGLGPGSRRPLDEAVAGAEGREAPALVAAGGAPEDDEEDDGRGRGLLRWDSFSAWLHCVCVVGFDLELGQAVEHVHVHVLPRKA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_DENND6A_ENST00000311128_chr3_57678509_-_FHIT_ENST00000476844_chr3_59908140_-_402nt ATGGCTTTGAGGGGCCCTGCGGGCTTGGGGCCCGGCTCTCGAAGGCCGTTGGACGAAGCGGTGGCAGGGGCCGAGGGCCGCGAGGCGCCG GCCCTTGTGGCGGCGGGAGGCGCGCCAGAGGACGATGAAGAGGACGATGGCCGTGGCCGGGGCCTGCTGCGCTGGGACAGCTTCTCCGCC TGGCTGCACTGCGTGTGTGTGGTGGGCTTCGACCTGGAGCTGGGCCAGGCCGTGGAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCT GGAGACTTTCACAGGAATGACAGCATCTATGAGGAGCTCCAGAAACATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAA >In-frame_DENND6A_ENST00000311128_chr3_57678509_-_FHIT_ENST00000492590_chr3_59908140_-_402nt ATGGCTTTGAGGGGCCCTGCGGGCTTGGGGCCCGGCTCTCGAAGGCCGTTGGACGAAGCGGTGGCAGGGGCCGAGGGCCGCGAGGCGCCG GCCCTTGTGGCGGCGGGAGGCGCGCCAGAGGACGATGAAGAGGACGATGGCCGTGGCCGGGGCCTGCTGCGCTGGGACAGCTTCTCCGCC TGGCTGCACTGCGTGTGTGTGGTGGGCTTCGACCTGGAGCTGGGCCAGGCCGTGGAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCT GGAGACTTTCACAGGAATGACAGCATCTATGAGGAGCTCCAGAAACATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_DENND6A_ENST00000311128_chr3_57678509_-_FHIT_ENST00000476844_chr3_59908140_-_737nt CTGCGCGGAGGCAAGCGCGCTCTGCGGCGCGGTCCGCTGTGGAGGCGGCGCGAACGGTCAGGGGGCGGCCGATGGCTTTGAGGGGCCCTG CGGGCTTGGGGCCCGGCTCTCGAAGGCCGTTGGACGAAGCGGTGGCAGGGGCCGAGGGCCGCGAGGCGCCGGCCCTTGTGGCGGCGGGAG GCGCGCCAGAGGACGATGAAGAGGACGATGGCCGTGGCCGGGGCCTGCTGCGCTGGGACAGCTTCTCCGCCTGGCTGCACTGCGTGTGTG TGGTGGGCTTCGACCTGGAGCTGGGCCAGGCCGTGGAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATG ACAGCATCTATGAGGAGCTCCAGAAACATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAAATGGCAGCAGAAGCCGCAG CTCTGCGGGTCTACTTTCAGTGACACAGATCCTGAATTCCAGCAAAAGAGCTATTGCCAACCAGTTTGAAGACCGCCCCCCGCCTCTCCC CAAGAGGAACTGAATCAGCATGAAAATGCAGTTTCTTCATCTCACCATCCTGTATTCTTCAACCAGTGATCCCCCACCTCGGTCACTCCA ACTCCCTTAAAATACCTAGACCTAAACGGCTCAGACAGGCAGATTTGAGGTTTCCCCCTGTCTCCTTATTCGGCAGCCTTATGATTAAAC >In-frame_DENND6A_ENST00000311128_chr3_57678509_-_FHIT_ENST00000492590_chr3_59908140_-_748nt CTGCGCGGAGGCAAGCGCGCTCTGCGGCGCGGTCCGCTGTGGAGGCGGCGCGAACGGTCAGGGGGCGGCCGATGGCTTTGAGGGGCCCTG CGGGCTTGGGGCCCGGCTCTCGAAGGCCGTTGGACGAAGCGGTGGCAGGGGCCGAGGGCCGCGAGGCGCCGGCCCTTGTGGCGGCGGGAG GCGCGCCAGAGGACGATGAAGAGGACGATGGCCGTGGCCGGGGCCTGCTGCGCTGGGACAGCTTCTCCGCCTGGCTGCACTGCGTGTGTG TGGTGGGCTTCGACCTGGAGCTGGGCCAGGCCGTGGAGCACGTTCACGTCCATGTTCTTCCCAGGAAGGCTGGAGACTTTCACAGGAATG ACAGCATCTATGAGGAGCTCCAGAAACATGACAAGGAGGACTTTCCTGCCTCTTGGAGATCAGAGGAGGAAATGGCAGCAGAAGCCGCAG CTCTGCGGGTCTACTTTCAGTGACACAGATGTTTTTCAGATCCTGAATTCCAGCAAAAGAGCTATTGCCAACCAGTTTGAAGACCGCCCC CCGCCTCTCCCCAAGAGGAACTGAATCAGCATGAAAATGCAGTTTCTTCATCTCACCATCCTGTATTCTTCAACCAGTGATCCCCCACCT CGGTCACTCCAACTCCCTTAAAATACCTAGACCTAAACGGCTCAGACAGGCAGATTTGAGGTTTCCCCCTGTCTCCTTATTCGGCAGCCT |
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FusionGenePPI for DENND6A_FHIT |
| 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 |
| DENND6A | RPS6KC1, EFNB2, SPACA1, TGFBR2, BTN2A1, DLK1, PRKCSH, VSIG4, HAVCR2, TPCN2, PDCD1, RNF19B, EFNB3, PMEL | FHIT | FHIT, UBE2I, CTNNB1, LEF1, TRIM23, RAB40B, MDM2, REL, TP53, ARHGAP19, MTMR6, RABL2A, CHEK1 |
| - 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 DENND6A_FHIT |
| 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 |
| Tgene | FHIT | P49789 | DB04173 | Fructose | Bis(5'-adenosyl)-triphosphatase | small molecule | approved|experimental |
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RelatedDiseases for DENND6A_FHIT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FHIT | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Tgene | FHIT | C0025500 | Mesothelioma | 2 | CTD_human |
| Tgene | FHIT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | FHIT | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | FHIT | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | FHIT | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | FHIT | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | FHIT | C0042076 | Urologic Neoplasms | 1 | CTD_human |
| Tgene | FHIT | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| Tgene | FHIT | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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