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Fusion gene ID: 40834 |
FusionGeneSummary for UNK_AVIL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UNK_AVIL | Fusion gene ID: 40834 | Hgene | Tgene | Gene symbol | UNK | AVIL | Gene ID | 85451 | 10677 |
| Gene name | unkempt family zinc finger | advillin | |
| Synonyms | UNKEMPT|ZC3H5|ZC3HDC5 | ADVIL|DOC6|p92 | |
| Cytomap | 17q25.1 | 12q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RING finger protein unkempt homologunkempt homologzinc finger CCCH domain-containing protein 5zinc finger CCCH-type containing 5zinc finger CCCH-type domain containing 5 | advillin | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9C0B0 | O75366 | |
| Ensembl transtripts involved in fusion gene | ENST00000293218, ENST00000589666, | ENST00000537081, ENST00000257861, ENST00000550083, | |
| Fusion gene scores | * DoF score | 12 X 1 X 7=84 | 15 X 10 X 6=900 |
| # samples | 15 | 16 | |
| ** MAII score | log2(15/84*10)=0.836501267717121 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(16/900*10)=-2.49185309632967 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: UNK [Title/Abstract] AND AVIL [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 | LUSC | TCGA-43-2581-01A | UNK | chr17 | 73781065 | + | AVIL | chr12 | 58209842 | - |
| * 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 |
| 5CDS-intron | ENST00000293218 | ENST00000537081 | UNK | chr17 | 73781065 | + | AVIL | chr12 | 58209842 | - |
| 5CDS-5UTR | ENST00000293218 | ENST00000257861 | UNK | chr17 | 73781065 | + | AVIL | chr12 | 58209842 | - |
| 5CDS-intron | ENST00000293218 | ENST00000550083 | UNK | chr17 | 73781065 | + | AVIL | chr12 | 58209842 | - |
| 5CDS-intron | ENST00000589666 | ENST00000537081 | UNK | chr17 | 73781065 | + | AVIL | chr12 | 58209842 | - |
| 5CDS-5UTR | ENST00000589666 | ENST00000257861 | UNK | chr17 | 73781065 | + | AVIL | chr12 | 58209842 | - |
| 5CDS-intron | ENST00000589666 | ENST00000550083 | UNK | chr17 | 73781065 | + | AVIL | chr12 | 58209842 | - |
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FusionProtFeatures for UNK_AVIL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UNK | AVIL |
| Sequence-specific RNA-binding protein which plays animportant role in the establishment and maintenance of the earlymorphology of cortical neurons during embryonic development. Actsas a translation repressor and controls a translationallyregulated cell morphology program to ensure proper structuring ofthe nervous system. Translational control depends on recognitionof its binding element within target mRNAs which consists of amandatory UAG trimer upstream of a U/A-rich motif. Associated withpolysomes (PubMed:25737280). {ECO:0000269|PubMed:25737280}. | Ca(2+)-regulated actin-binding protein. May have aunique function in the morphogenesis of neuronal cells which formganglia. Required for SREC1-mediated regulation of neurite-likeoutgrowth. Plays a role in regenerative sensory axon outgrowth andremodeling processes after peripheral injury in neonates. Involvedin the formation of long fine actin-containing filopodia-likestructures in fibroblast. Plays a role in ciliogenesis.{ECO:0000269|PubMed:20393563}. |
| 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 UNK_AVIL |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for UNK_AVIL |
| 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 |
| UNK | ATXN1, ATP6V1B2, ZFYVE19, UBA2, UBA52, YAP1, UBXN1, UFC1, UBE2A, UBE2B, TTLL12, PAICS, ATP6V1F, USP9X, TYMS, TRIP6, KIAA1598, UBE2D1, UCHL3, ZRANB2, SEC24A, VPS26A, UBE2C, S100A4, S100A9, DSTN, USP34, UBQLN1, SRXN1, STAM, IGBP1, SAV1, DPY30, HINT1, CALM2, CLTC, USMG5, ARF4, GDI2, MGST3, TUBB, HSPA4, CSDE1, PPP2CA, CDC42, EEF1A1, CSE1L, SERINC1, MATR3, MINOS1, ACTR3, RAB1A, KPNB1, VPS35, MTA2, TRA2B, RTN4, COPS3, C16orf72, CCT5, COX7B, TCP1, CALM1, LEPROTL1, COPA, RPL30, SPCS1, TMEM30A, RER1, COPB2, PDIA3, RPA3, RPS27L, HNRNPH1, HSPE1, ARF5, RAB5A, GNB2L1, COMMD6, PHB2, PDIA6, PCBP1, HNRNPU, CCT8, NUP155, PICALM, RAB14, CUL2, UGP2, ATP6V1H, YME1L1, YWHAG, KDM1A, GARS, PRRC2B, PTGES3, ITM2B, CBX3, RBFOX2, DDX5, SDCBP, HSP90AB1, ARF1, VCL, LAPTM4A, ANP32E, COX7A2, ACTR2, PLK2, CKAP5, MKLN1, PNRC1, IPO7, PRDX3, FAM49B, LDHA, LIMCH1, CCT4, CBX5, YBX1, TNPO3, C14orf2, PSMB1, PARK7, KRAS, GGPS1, SRRM2, CAND1, TROVE2, ARPC2, CTNNB1, YWHAE, GHITM, ATP2A2, ACTB, HAT1, EIF4H, ACAT1, SPTBN1, COX5A, HDAC2, HSP90AA1, YWHAB, GDI1, ITGB1, UBA1, ATP6AP2, KPNA4, DHX15, FBXO11, EIF2S3, RRN3, PPP1CB, EIF4A1, MYEOV2, TXNL1, SLC38A2, LRRC58, SFPQ, HNRNPAB, NDFIP1, MSH6, ABCD3, YIPF4, RANBP9, UBE2G1, OCIAD1, H2AFY, TMPO, SAR1A, MCMBP, EIF4A2, PJA2, DNM1L, HUWE1, HERC1, OPA1, NCL, TFG, DYNC1H1, SUB1, YWHAZ, HSPD1, EEF2, ID3, CUL4A, RPL22L1, PLS3, DPYSL2, RAD21, IPO9, ARPC4, EIF3A, HN1, USP14, RPS3, EIF3E, BFAR, IP6K2, EMC6, H3F3B, EIF4G1, TOMM70A, ATP2B1, CTNNA1, NCBP1, TXN, SIN3A, MAPRE1, GLS, POLR2H, SF3B1, BIRC6, SKIV2L2, PDCD10, ATP5A1, CTSB, PPID, SNRPE, RAP1A, PSEN1, CHMP5, ATP5EP2, GFPT1, MTMR2, PDCD4, SDHC, MGA, WAC, OGDH, PKN2, RLIM, NUFIP2, TOP2A, SLC25A3, TXNL4A, NAP1L4, HNRNPL, EIF4G2, OGT, CSTF3, GPR85, SAFB, CNOT8, HSPA9, BCLAF1, HNRNPDL, EIF3H, RTCB, MARCH5, AP1G1, SF3B3, PPP6R3, XPO1, SLC38A1, PLAA, ARID1A, DHX36, BRD3, SLC4A7, ARL6IP1, PTP4A2, MCL1, CSNK2B, PPP1R15B, FOXP1, NFIB, DST, ATP5O, GLUD1, NUP98, ARHGAP5, SLC16A1, PTPRF, LUC7L3, CNIH4, STT3B, FAM13B, HIATL1, TOP2B, MED14, NPAT, KPNA6, TRAPPC8, ATPIF1, TSC22D1, HMGCR, GTF2H5, ABCB7, CALM3, POLR2A, MLLT6, YIPF6 | AVIL | CRK, RBSN, DDX11, DUS3L, FIGNL1, SCYL1, DOCK7, VIL1, TMOD2, RICTOR, RIPK4, DCTN6, MCM8, THUMPD3, BRIP1, MYO5C, ALMS1, MYO1F, TUBA4A, TUBB8, MYO1B, MYO5A, USP47, C14orf80, TUBB3, DDX11L8, WDR59, BBS1 |
| - 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 UNK_AVIL |
| 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 UNK_AVIL |
| 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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