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Fusion gene ID: 1580 |
FusionGeneSummary for ALYREF_CCDC57 |
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Fusion gene information | Fusion gene name: ALYREF_CCDC57 | Fusion gene ID: 1580 | Hgene | Tgene | Gene symbol | ALYREF | CCDC57 | Gene ID | 10189 | 284001 |
Gene name | Aly/REF export factor | coiled-coil domain containing 57 | |
Synonyms | ALY|ALY/REF|BEF|REF|THOC4 | - | |
Cytomap | 17q25.3 | 17q25.3 | |
Type of gene | protein-coding | protein-coding | |
Description | THO complex subunit 4THO complex 4ally of AML-1 and LEF-1bZIP enhancing factorbZIP-enhancing factor BEFtho4transcriptional coactivator Aly/REF | coiled-coil domain-containing protein 57 | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q86V81 | Q2TAC2 | |
Ensembl transtripts involved in fusion gene | ENST00000331204, ENST00000505490, ENST00000512673, | ENST00000392347, ENST00000389641, ENST00000392346, ENST00000327026, ENST00000392343, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 9 X 6 X 9=486 |
# samples | 2 | 11 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(11/486*10)=-2.14345279008112 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ALYREF [Title/Abstract] AND CCDC57 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ALYREF | GO:0046784 | viral mRNA export from host cell nucleus | 18974867 |
![]() (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 | ESCA | TCGA-2H-A9GN-01A | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-intron | ENST00000331204 | ENST00000392347 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000331204 | ENST00000389641 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000331204 | ENST00000392346 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-5UTR | ENST00000331204 | ENST00000327026 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000331204 | ENST00000392343 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000505490 | ENST00000392347 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000505490 | ENST00000389641 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000505490 | ENST00000392346 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-5UTR | ENST00000505490 | ENST00000327026 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000505490 | ENST00000392343 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000512673 | ENST00000392347 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000512673 | ENST00000389641 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000512673 | ENST00000392346 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-5UTR | ENST00000512673 | ENST00000327026 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
intron-intron | ENST00000512673 | ENST00000392343 | ALYREF | chr17 | 79846317 | - | CCDC57 | chr17 | 80113504 | - |
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FusionProtFeatures for ALYREF_CCDC57 |
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Hgene | Tgene |
ALYREF | CCDC57 |
Export adapter involved in nuclear export of spliced andunspliced mRNA. Binds mRNA which is thought to be transferred tothe NXF1-NXT1 heterodimer for export (TAP/NFX1 pathway). Componentof the TREX complex which is thought to couple mRNA transcription,processing and nuclear export, and specifically associates withspliced mRNA and not with unspliced pre-mRNA. TREX is recruited tospliced mRNAs by a transcription-independent mechanism, binds tomRNA upstream of the exon-junction complex (EJC) and is recruitedin a splicing- and cap-dependent manner to a region near the 5'end of the mRNA where it functions in mRNA export to thecytoplasm. TREX recruitment occurs via an interaction betweenALYREF/THOC4 and the cap-binding protein NCBP1. The TREX complexis essential for the export of Kaposi's sarcoma-associatedherpesvirus (KSHV) intronless mRNAs and infectious virusproduction; ALYREF/THOC4 mediates the recruitment of the TREXcomplex to the intronless viral mRNA. Required for TREX complexassembly and for linking DDX39B to the cap-binding complex (CBC).In conjunction with THOC5 functions in NXF1-NXT1 mediated nuclearexport of HSP70 mRNA; both proteins enhance the RNA bindingactivity of NXF1 and are required for NXF1 localization to thenuclear rim. Involved in the nuclear export of intronless mRNA;proposed to be recruited to intronless mRNA by ATP-bound DDX39B.Involved in transcription elongation and genome stability.{ECO:0000269|PubMed:25662211}. Acts as chaperone and promotes the dimerization oftranscription factors containing basic leucine zipper (bZIP)domains and thereby promotes transcriptional activation. |
![]() * 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 ALYREF_CCDC57 |
![]() (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 ALYREF_CCDC57 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ALYREF | DDX39A, DDX39B, LEF1, RUNX2, ALYREF, RBM8A, RRP1B, PCF11, MEPCE, DOT1L, H2AFX, UBC, RAD21, HDGF, ELAVL1, ARRB1, ARRB2, SIRT7, HNRNPA1, CUL3, CUL2, CUL1, COPS5, CAND1, NCBP1, THOC2, THOC5, THOC1, THOC3, THOC6, THOC7, ZC3H13, KIAA1429, ACIN1, SRRM1, SRRT, EFTUD2, RBM15, DDX3X, U2AF2, SRSF2, SRSF7, SRSF1, NR5A1, SMAD4, RBM15B, NXF1, GRK5, SF3B4, HNRNPM, YBX1, SRRM2, TLE3, WDR35, UGGT1, TRIP12, ATP6V1E1, TRIP13, UBA5, UBE2I, ERCC4, PAXIP1, EIF4A3, MAGOH, FN1, VCAM1, IL7R, ITGA4, CBX8, PAN2, CD81, IGSF8, ICAM1, FBXO6, STAU1, CEP250, NEDD1, AKT1, TP53, CUL7, OBSL1, SUZ12, EED, RNF2, CDK2, ILK, MARK3, PXK, SCYL2, SRPK1, TYK2, LUZP4, ESR1, PRMT8, DHX9, HSPA9, RBM34, SKIV2L, CSNK1E, GNL1, NAA16, NAP1L1, NOP2, PABPC1, PABPC4, XRN1, NTRK1, EWSR1, XPO1, HNRNPU, RPL10, BCLAF1, MATR3, FGFR1OP2, C17orf85, GLI1, NANOG, SFPQ, PRPF3, PRPF4, LSM4, LSM8, RPL26L1, SART3, PPIH, OLA1, RPL32, RNH1, CHCHD2, FAU, LSM6, NCL, CYLD, INO80B, CDK1, COQ2, COX15, HSD17B10, PARK7, PDHA1, SOAT1, FOXA1, TRIM25, LMNA | CCDC57 | KIAA0368, NUMA1, HSFX1, PER1, AES, AQP1, HBA2, MFAP1, PTPN7, RAB3IL1, NELFE, USP2, UTP14C, SFI1, USP15, ARL4A, PRPF31, FAM50B, GPKOW, PPHLN1, FAM90A1, TMEM100, TBC1D22B, CBX8, ROBO3, LENG1, PRR3, PRAM1, FAM161A, ZGPAT, CCDC120, NAPRT, HAUS1, SIRPA, CWF19L2, LINC00526, ZNF417, ZMAT2, CDC20B, PPP1R18, ZFC3H1, TSGA10IP, CCDC57, CEP57L1, C17orf59, CCDC67, OFD1, XRCC6 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ALYREF_CCDC57 |
![]() (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 ALYREF_CCDC57 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ALYREF | C0019693 | HIV Infections | 1 | CTD_human |