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Fusion gene ID: 1601 |
FusionGeneSummary for AMD1_FIG4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AMD1_FIG4 | Fusion gene ID: 1601 | Hgene | Tgene | Gene symbol | AMD1 | FIG4 | Gene ID | 262 | 9896 |
| Gene name | adenosylmethionine decarboxylase 1 | FIG4 phosphoinositide 5-phosphatase | |
| Synonyms | ADOMETDC|AMD|SAMDC | ALS11|BTOP|CMT4J|KIAA0274|SAC3|YVS|dJ249I4.1 | |
| Cytomap | 6q21 | 6q21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | S-adenosylmethionine decarboxylase proenzymeS-adenosylmethionine decarboxylase 1 | polyphosphoinositide phosphataseFIG4 homolog, SAC domain containing lipid phosphataseFIG4 homolog, SAC1 domain containing lipid phosphataseFIG4 homolog, SAC1 lipid phosphatase domain containingSAC domain-containing protein 3Sac domain-containing inos | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P17707 | Q92562 | |
| Ensembl transtripts involved in fusion gene | ENST00000368882, ENST00000368885, ENST00000451850, ENST00000368877, ENST00000368876, | ENST00000441478, ENST00000230124, ENST00000368941, | |
| Fusion gene scores | * DoF score | 6 X 4 X 3=72 | 3 X 3 X 3=27 |
| # samples | 6 | 3 | |
| ** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: AMD1 [Title/Abstract] AND FIG4 [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 |
| 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 | UCS | TCGA-NA-A5I1-01A | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| * 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 |
| 5UTR-3CDS | ENST00000368882 | ENST00000441478 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| 5UTR-3CDS | ENST00000368882 | ENST00000230124 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| 5UTR-intron | ENST00000368882 | ENST00000368941 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| Frame-shift | ENST00000368885 | ENST00000441478 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| In-frame | ENST00000368885 | ENST00000230124 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| 5CDS-intron | ENST00000368885 | ENST00000368941 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| Frame-shift | ENST00000451850 | ENST00000441478 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| In-frame | ENST00000451850 | ENST00000230124 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| 5CDS-intron | ENST00000451850 | ENST00000368941 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| Frame-shift | ENST00000368877 | ENST00000441478 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| In-frame | ENST00000368877 | ENST00000230124 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| 5CDS-intron | ENST00000368877 | ENST00000368941 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| intron-3CDS | ENST00000368876 | ENST00000441478 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| intron-3CDS | ENST00000368876 | ENST00000230124 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
| intron-intron | ENST00000368876 | ENST00000368941 | AMD1 | chr6 | 111196418 | + | FIG4 | chr6 | 110146291 | + |
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FusionProtFeatures for AMD1_FIG4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AMD1 | FIG4 |
| Essential for biosynthesis of the polyamines spermidineand spermine. Promotes maintenance and self-renewal of embryonicstem cells, by maintaining spermine levels.{ECO:0000250|UniProtKB:P0DMN7}. | The PI(3,5)P2 regulatory complex regulates both thesynthesis and turnover of phosphatidylinositol 3,5-bisphosphate(PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylatedpolyphosphoinositide substrates in the order PtdIns(4,5)P2 >PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis ofendosome carrier vesicles (ECV) / multivesicular bodies (MVB)transport intermediates from early endosomes.{ECO:0000269|PubMed:17556371}. |
| 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 AMD1_FIG4 |
| 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_AMD1_ENST00000368885_chr6_111196418_+_FIG4_ENST00000230124_chr6_110146291_+_96aa MEAAHFFEGTEKLLEVWFSRQQPDANQGSGDLRTIPRTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYREYI >In-frame_AMD1_ENST00000451850_chr6_111196418_+_FIG4_ENST00000230124_chr6_110146291_+_96aa MEAAHFFEGTEKLLEVWFSRQQPDANQGSGDLRTIPRTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYREYI >In-frame_AMD1_ENST00000368877_chr6_111196418_+_FIG4_ENST00000230124_chr6_110146291_+_96aa MEAAHFFEGTEKLLEVWFSRQQPDANQGSGDLRTIPRTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYREYI |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_AMD1_ENST00000368885_chr6_111196418_+_FIG4_ENST00000230124_chr6_110146291_+_288nt ATGGAAGCTGCACATTTTTTCGAAGGGACCGAGAAGCTGCTGGAGGTTTGGTTCTCCCGGCAGCAGCCCGACGCAAACCAAGGATCTGGG GATCTTCGCACTATCCCAAGAACACCCATCTCGGCTTTCTCGCAAGATAACATCTATGAAGTTCAGCCCCCAAGAGTAGACAGAAAATCT ACAGAGATCTTCCAAGCCCACATCCAGGCCAGCCAAGGTATCATGCAGCCCCTAGGAAAAGAGGACTCCTCCATGTACCGAGAGTACATC >In-frame_AMD1_ENST00000451850_chr6_111196418_+_FIG4_ENST00000230124_chr6_110146291_+_288nt ATGGAAGCTGCACATTTTTTCGAAGGGACCGAGAAGCTGCTGGAGGTTTGGTTCTCCCGGCAGCAGCCCGACGCAAACCAAGGATCTGGG GATCTTCGCACTATCCCAAGAACACCCATCTCGGCTTTCTCGCAAGATAACATCTATGAAGTTCAGCCCCCAAGAGTAGACAGAAAATCT ACAGAGATCTTCCAAGCCCACATCCAGGCCAGCCAAGGTATCATGCAGCCCCTAGGAAAAGAGGACTCCTCCATGTACCGAGAGTACATC >In-frame_AMD1_ENST00000368877_chr6_111196418_+_FIG4_ENST00000230124_chr6_110146291_+_288nt ATGGAAGCTGCACATTTTTTCGAAGGGACCGAGAAGCTGCTGGAGGTTTGGTTCTCCCGGCAGCAGCCCGACGCAAACCAAGGATCTGGG GATCTTCGCACTATCCCAAGAACACCCATCTCGGCTTTCTCGCAAGATAACATCTATGAAGTTCAGCCCCCAAGAGTAGACAGAAAATCT ACAGAGATCTTCCAAGCCCACATCCAGGCCAGCCAAGGTATCATGCAGCCCCTAGGAAAAGAGGACTCCTCCATGTACCGAGAGTACATC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_AMD1_ENST00000368885_chr6_111196418_+_FIG4_ENST00000230124_chr6_110146291_+_787nt TCACGCAGCGCTCTCGCTTACACAGTATGGCCGGCGACATTAGCTAGCGCTCGCTCTACTCTCTCTAACGGGAAAGCAGCGGAATACAAG AGACTGAACTGTATCTGCCTCTATTTCCAAAAGACTCACGTTCAACTTTCGCTCACACAAAGCCGGGAAAATTTTATTAGTCCTTTTTTT AAAAAAAGTTAATATAAAATTATAGCAAAAAAAAAAAGGAACCTGAACTTTAGTAACACAGCTGGAACAATCCGCAGCGGCGGCGGCAGC GGCGGGAGAAGAGGTTTAATTTAGTTGATTTTCTGTGGTTGTTGGTTGTTCGCTAGTCTCACGGTGATGGAAGCTGCACATTTTTTCGAA GGGACCGAGAAGCTGCTGGAGGTTTGGTTCTCCCGGCAGCAGCCCGACGCAAACCAAGGATCTGGGGATCTTCGCACTATCCCAAGAACA CCCATCTCGGCTTTCTCGCAAGATAACATCTATGAAGTTCAGCCCCCAAGAGTAGACAGAAAATCTACAGAGATCTTCCAAGCCCACATC CAGGCCAGCCAAGGTATCATGCAGCCCCTAGGAAAAGAGGACTCCTCCATGTACCGAGAGTACATCAGGAACCGCTACCTGTGAAAAGAG CGCAGGTCCACCTGGTGGACACGTCTGATTAGCTTAGAACCTGTCTTGTCTCATCTTCAAAAGGTAACTTATTAAAAGTCCTTTGCGTCT >In-frame_AMD1_ENST00000451850_chr6_111196418_+_FIG4_ENST00000230124_chr6_110146291_+_773nt CGCTTACACAGTATGGCCGGCGACATTAGCTAGCGCTCGCTCTACTCTCTCTAACGGGAAAGCAGCGGAATACAAGAGACTGAACTGTAT CTGCCTCTATTTCCAAAAGACTCACGTTCAACTTTCGCTCACACAAAGCCGGGAAAATTTTATTAGTCCTTTTTTTAAAAAAAGTTAATA TAAAATTATAGCAAAAAAAAAAAGGAACCTGAACTTTAGTAACACAGCTGGAACAATCCGCAGCGGCGGCGGCAGCGGCGGGAGAAGAGG TTTAATTTAGTTGATTTTCTGTGGTTGTTGGTTGTTCGCTAGTCTCACGGTGATGGAAGCTGCACATTTTTTCGAAGGGACCGAGAAGCT GCTGGAGGTTTGGTTCTCCCGGCAGCAGCCCGACGCAAACCAAGGATCTGGGGATCTTCGCACTATCCCAAGAACACCCATCTCGGCTTT CTCGCAAGATAACATCTATGAAGTTCAGCCCCCAAGAGTAGACAGAAAATCTACAGAGATCTTCCAAGCCCACATCCAGGCCAGCCAAGG TATCATGCAGCCCCTAGGAAAAGAGGACTCCTCCATGTACCGAGAGTACATCAGGAACCGCTACCTGTGAAAAGAGCGCAGGTCCACCTG GTGGACACGTCTGATTAGCTTAGAACCTGTCTTGTCTCATCTTCAAAAGGTAACTTATTAAAAGTCCTTTGCGTCTGAAGCCTTTCTCCT >In-frame_AMD1_ENST00000368877_chr6_111196418_+_FIG4_ENST00000230124_chr6_110146291_+_772nt GCTTACACAGTATGGCCGGCGACATTAGCTAGCGCTCGCTCTACTCTCTCTAACGGGAAAGCAGCGGAATACAAGAGACTGAACTGTATC TGCCTCTATTTCCAAAAGACTCACGTTCAACTTTCGCTCACACAAAGCCGGGAAAATTTTATTAGTCCTTTTTTTAAAAAAAGTTAATAT AAAATTATAGCAAAAAAAAAAAGGAACCTGAACTTTAGTAACACAGCTGGAACAATCCGCAGCGGCGGCGGCAGCGGCGGGAGAAGAGGT TTAATTTAGTTGATTTTCTGTGGTTGTTGGTTGTTCGCTAGTCTCACGGTGATGGAAGCTGCACATTTTTTCGAAGGGACCGAGAAGCTG CTGGAGGTTTGGTTCTCCCGGCAGCAGCCCGACGCAAACCAAGGATCTGGGGATCTTCGCACTATCCCAAGAACACCCATCTCGGCTTTC TCGCAAGATAACATCTATGAAGTTCAGCCCCCAAGAGTAGACAGAAAATCTACAGAGATCTTCCAAGCCCACATCCAGGCCAGCCAAGGT ATCATGCAGCCCCTAGGAAAAGAGGACTCCTCCATGTACCGAGAGTACATCAGGAACCGCTACCTGTGAAAAGAGCGCAGGTCCACCTGG TGGACACGTCTGATTAGCTTAGAACCTGTCTTGTCTCATCTTCAAAAGGTAACTTATTAAAAGTCCTTTGCGTCTGAAGCCTTTCTCCTT |
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FusionGenePPI for AMD1_FIG4 |
| 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 |
| AMD1 | AMD1, ELAVL1, RTBDN, DOK3, POLR2M, DNASE2B, PRELP, BMP15, KPTN, CLEC11A, ASTL, BMP7, NYX, ADCYAP1, HSPB1, MED4, SSX2, DKKL1, POP4, FBXO4, MISP, SHC4, HDAC11, SHC1, SNX21, PTH2, CCDC120, POMC, GLTP, TCF25 | FIG4 | VAC14, MYO18A, PIKFYVE, CMAS, TWISTNB, ANK1, SNX27 |
| - 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 AMD1_FIG4 |
| 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 |
| Hgene | AMD1 | P17707 | DB03754 | Tromethamine | S-adenosylmethionine decarboxylase proenzyme | small molecule | approved |
| Hgene | AMD1 | P17707 | DB00118 | Ademetionine | S-adenosylmethionine decarboxylase proenzyme | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for AMD1_FIG4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FIG4 | C1970011 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FIG4 | C0007959 | Charcot-Marie-Tooth Disease | 1 | CTD_human |
| Tgene | FIG4 | C1857663 | Yunis Varon syndrome | 1 | ORPHANET;UNIPROT |
| Tgene | FIG4 | C2675491 | AMYOTROPHIC LATERAL SCLEROSIS 11 | 1 | CTD_human;UNIPROT |
| Tgene | FIG4 | C4013648 | POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL | 1 | ORPHANET;UNIPROT |
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