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Fusion gene ID: 37740 |
FusionGeneSummary for TERF2IP_AMY1C |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TERF2IP_AMY1C | Fusion gene ID: 37740 | Hgene | Tgene | Gene symbol | TERF2IP | AMY1C | Gene ID | 54386 | 278 |
| Gene name | TERF2 interacting protein | amylase, alpha 1C (salivary) | |
| Synonyms | DRIP5|RAP1 | AMY1 | |
| Cytomap | 16q23.1 | 1p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | telomeric repeat-binding factor 2-interacting protein 1TERF2-interacting telomeric protein 1TRF2-interacting telomeric RAP1 proteindopamine receptor-interacting protein 5repressor/activator protein 1 homolog | alpha-amylase 11,4-alpha-D-glucan glucanohydrolase 1amylase, salivary, alpha-1Cglycogenasesalivary alpha-amylasesalivary amylase alpha 1C | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9NYB0 | P04745 | |
| Ensembl transtripts involved in fusion gene | ENST00000300086, | ENST00000370079, | |
| Fusion gene scores | * DoF score | 4 X 2 X 3=24 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/24*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TERF2IP [Title/Abstract] AND AMY1C [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 | TERF2IP | GO:0000723 | telomere maintenance | 14565979 |
| Hgene | TERF2IP | GO:0032205 | negative regulation of telomere maintenance | 17055345 |
| 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-A8S9-01A | TERF2IP | chr16 | 75682450 | + | AMY1C | chr1 | 104301091 | + |
| * 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 | ENST00000300086 | ENST00000370079 | TERF2IP | chr16 | 75682450 | + | AMY1C | chr1 | 104301091 | + |
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FusionProtFeatures for TERF2IP_AMY1C |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TERF2IP | AMY1C |
| Acts both as a regulator of telomere function and as atranscription regulator. Involved in the regulation of telomerelength and protection as a component of the shelterin complex(telosome). In contrast to other components of the shelterincomplex, it is dispensible for telomere capping and does notparticipate in the protection of telomeres against non-homologousend-joining (NHEJ)-mediated repair. Instead, it is required tonegatively regulate telomere recombination and is essential forrepressing homology-directed repair (HDR), which can affecttelomere length. Does not bind DNA directly: recruited totelomeric double-stranded 5'-TTAGGG-3' repeats via its interactionwith TERF2. Independently of its function in telomeres, also actsas a transcription regulator: recruited to extratelomeric 5'-TTAGGG-3' sites via its association with TERF2 or other factors,and regulates gene expression. When cytoplasmic, associates withthe I-kappa-B-kinase (IKK) complex and acts as a regulator of theNF-kappa-B signaling by promoting IKK-mediated phosphorylation ofRELA/p65, leading to activate expression of NF-kappa-B targetgenes. {ECO:0000269|PubMed:16166375, ECO:0000269|PubMed:19763083}. |
| 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 | TERF2IP | chr16:75682450 | chr1:104301091 | ENST00000300086 | + | 1 | 3 | 128_188 | 223 | 400 | Domain | Note=Myb-like |
| Hgene | TERF2IP | chr16:75682450 | chr1:104301091 | ENST00000300086 | + | 1 | 3 | 78_101 | 223 | 400 | Domain | Note=BRCT |
| - 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 | >TERF2IP | chr16:75682450 | chr1:104301091 | ENST00000300086 | + | 1 | 3 | 214_304 | 223 | 400 | Compositional bias | Note=Asp/Glu-rich (acidic) |
| Hgene | >TERF2IP | chr16:75682450 | chr1:104301091 | ENST00000300086 | + | 1 | 3 | 383_399 | 223 | 400 | Motif | Nuclear localization signal |
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FusionGeneSequence for TERF2IP_AMY1C |
| 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_TERF2IP_ENST00000300086_chr16_75682450_+_AMY1C_ENST00000370079_chr1_104301091_+_286aa MAEAMDLGKDPNGPTHSSTLFVRDDGSSMSFYVRPSPAKRRLSTLILHGGGTVCRVQEPGAVLLAQPGEALAEASGDFISTQYILDCVER NERLELEAYRLGPASAADTGSEAKPGALAEGAAEPEPQRHAGRIAFTDADDVAILTYVKENARSPSSVTGNALWKAMEKSSLTQHSWQSL KDRYLKHLRGQEHKYLLGDAPVSPSSQKLKRKAEEDPEAADSGGHFLXLCKLVFLLAHTVMSFLEIKLMATAQALKSTFLMMAKLIFLLV |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TERF2IP_ENST00000300086_chr16_75682450_+_AMY1C_ENST00000370079_chr1_104301091_+_860nt ATGGCGGAGGCGATGGATTTGGGCAAAGACCCCAACGGGCCCACCCATTCCTCGACTCTGTTCGTGAGGGACGACGGCAGCTCCATGTCC TTCTACGTGCGGCCCAGCCCGGCCAAGCGTCGGCTGTCGACGCTCATCCTGCACGGCGGCGGCACCGTGTGCCGAGTGCAGGAGCCCGGG GCCGTGCTGCTGGCCCAGCCCGGGGAGGCGCTGGCCGAGGCCTCGGGTGATTTCATCTCCACGCAGTACATCCTGGACTGCGTGGAGCGC AACGAGAGGCTGGAGCTGGAGGCCTATCGGCTGGGCCCCGCCTCGGCGGCGGACACCGGCTCGGAAGCAAAGCCCGGGGCCCTGGCCGAG GGCGCCGCGGAGCCGGAGCCGCAGCGGCACGCCGGGCGGATCGCCTTCACGGATGCGGACGACGTAGCCATCCTTACCTACGTGAAGGAA AATGCCCGCTCGCCCAGCTCCGTCACCGGTAACGCCTTGTGGAAAGCGATGGAGAAGAGCTCGCTCACGCAGCACTCGTGGCAGTCCCTG AAGGACCGCTACCTCAAGCACCTGCGGGGCCAGGAGCATAAGTACCTGCTGGGGGACGCGCCGGTGAGCCCCTCCTCCCAGAAGCTCAAG CGGAAGGCGGAGGAGGACCCGGAGGCCGCGGATAGCGGGGGACATTTTCTTTAACTTTGCAAACTGGTCTTCCTGCTGGCACATACTGTG ATGTCATTTCTGGAGATAAAATTAATGGCAACTGCACAGGCATTAAAATCTACGTTTCTGATGATGGCAAAGCTCATTTTTCTATTAGTA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TERF2IP_ENST00000300086_chr16_75682450_+_AMY1C_ENST00000370079_chr1_104301091_+_989nt GCGGCAGAGGCGTCTGCGGTGACAGCTCAGTCAGTTGAGCTCTGTGTGCCAGGCGCTCGCGAGGGGGTAGCTCTTCTAGTAGTGCTCGGC GTCAGACATGGCGGAGGCGATGGATTTGGGCAAAGACCCCAACGGGCCCACCCATTCCTCGACTCTGTTCGTGAGGGACGACGGCAGCTC CATGTCCTTCTACGTGCGGCCCAGCCCGGCCAAGCGTCGGCTGTCGACGCTCATCCTGCACGGCGGCGGCACCGTGTGCCGAGTGCAGGA GCCCGGGGCCGTGCTGCTGGCCCAGCCCGGGGAGGCGCTGGCCGAGGCCTCGGGTGATTTCATCTCCACGCAGTACATCCTGGACTGCGT GGAGCGCAACGAGAGGCTGGAGCTGGAGGCCTATCGGCTGGGCCCCGCCTCGGCGGCGGACACCGGCTCGGAAGCAAAGCCCGGGGCCCT GGCCGAGGGCGCCGCGGAGCCGGAGCCGCAGCGGCACGCCGGGCGGATCGCCTTCACGGATGCGGACGACGTAGCCATCCTTACCTACGT GAAGGAAAATGCCCGCTCGCCCAGCTCCGTCACCGGTAACGCCTTGTGGAAAGCGATGGAGAAGAGCTCGCTCACGCAGCACTCGTGGCA GTCCCTGAAGGACCGCTACCTCAAGCACCTGCGGGGCCAGGAGCATAAGTACCTGCTGGGGGACGCGCCGGTGAGCCCCTCCTCCCAGAA GCTCAAGCGGAAGGCGGAGGAGGACCCGGAGGCCGCGGATAGCGGGGGACATTTTCTTTAACTTTGCAAACTGGTCTTCCTGCTGGCACA TACTGTGATGTCATTTCTGGAGATAAAATTAATGGCAACTGCACAGGCATTAAAATCTACGTTTCTGATGATGGCAAAGCTCATTTTTCT |
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FusionGenePPI for TERF2IP_AMY1C |
| 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 |
| TERF2IP | AP2B1, TINF2, TERF2, RAD50, XRCC5, PARP1, MRE11A, XRCC6, TERF2IP, SLX4, HSPA4, POT1, TERF1, RAD51, ACD, VGLL4, CHMP2B, EPS8L1, MT3, POLD1, TBCA, ENAH, TSSC4, SCLY, AKR7A3, FAM122A, RBBP9, GPKOW, HDGFRP3, PCNP, MPG, C1orf174, ZNF414, HMGB3, WDR5, AKR1B10, BABAM1, DNMT3A, HIST1H2AL, C9orf78, HIST1H4B, AIMP2, S100P, FABP2, DHX38, CPNE2, XPO1, NUDT18, PML, EPAS1, GAGE5, RPP25, CALML3, AKT1, PRX, HNRNPK, RABIF, PACSIN3, HAGH, IDO1, MRTO4, RGMA, COTL1, PEA15, MDH1, PRDX6, SMARCC2, CRYBB1, MCM2, DDX23, PNMT, PAFAH1B3, AKR1A1, NUDT14, ARPP21, HIST1H1A, OGFR, BCL7B, NASP, HMGB1, NAIF1, CTBP1, LANCL2, MAGOHB, BANP, TOR1AIP1, XAGE2, CRK, UCHL1, TWF2, ADA, PPP6R3, IL1RN, RPAP1, SCRN2, PPP1R2, WIPI2, HAAO, SET, PTMA, PACSIN2, TALDO1, APEX1, DDX24, PGLS, GAMT, OCM2, PPM1G, HMGN4, SNCG, TBC1D10A, SP100, NUMA1, TMSB4Y, MT1X, AK1, HMGN3, DDX39A, PCP4, LGALSL, CRYGS, RECQL4, DPP3, ANXA5, DBNL, PGM1, NOL3, ANXA8L1, TMSB10, SBDS, NXNL1, CPNE3, GNMT, TFAP4, NBN, RIF1, PANK4, PPP2R5E, WDR92, PRPF40A, CCDC106, FBL, TADA2B, GGCX, PPP1R10, SLC16A3, WDFY3, DCLRE1B, KIAA1191, ARL4D, XAGE1B, ARL4C | AMY1C | UCP2, ACTR8, B3GALNT1, GTF2B, KIR2DS2, MAB21L1, STBD1, PRKAR2B, PMPCB, TRAPPC12, UBL7, CAMK1D, RIPK3, CCRL2, RCAN2, FRMD1, RHOBTB1, NPB, VASH1, TNFRSF19, ZBBX, TSFM, GKN1, RCAN1, FOXN4, WDR6, DDX17, PLEKHG6 |
| - 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 TERF2IP_AMY1C |
| 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 TERF2IP_AMY1C |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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