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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 1580

FusionGeneSummary for ALYREF_CCDC57

check button Fusion gene summary
Fusion gene informationFusion gene name: ALYREF_CCDC57
Fusion gene ID: 1580
HgeneTgene
Gene symbol

ALYREF

CCDC57

Gene ID

10189

284001

Gene nameAly/REF export factorcoiled-coil domain containing 57
SynonymsALY|ALY/REF|BEF|REF|THOC4-
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
DescriptionTHO complex subunit 4THO complex 4ally of AML-1 and LEF-1bZIP enhancing factorbZIP-enhancing factor BEFtho4transcriptional coactivator Aly/REFcoiled-coil domain-containing protein 57
Modification date2018052220180519
UniProtAcc

Q86V81

Q2TAC2

Ensembl transtripts involved in fusion geneENST00000331204, ENST00000505490, 
ENST00000512673, 
ENST00000392347, 
ENST00000389641, ENST00000392346, 
ENST00000327026, ENST00000392343, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 6 X 9=486
# samples 211
** MAII scorelog2(2/8*10)=1.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneALYREF

GO:0046784

viral mRNA export from host cell nucleus

18974867


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDESCATCGA-2H-A9GN-01AALYREFchr17

79846317

-CCDC57chr17

80113504

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000331204ENST00000392347ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000331204ENST00000389641ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000331204ENST00000392346ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-5UTRENST00000331204ENST00000327026ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000331204ENST00000392343ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000505490ENST00000392347ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000505490ENST00000389641ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000505490ENST00000392346ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-5UTRENST00000505490ENST00000327026ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000505490ENST00000392343ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000512673ENST00000392347ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000512673ENST00000389641ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000512673ENST00000392346ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-5UTRENST00000512673ENST00000327026ALYREFchr17

79846317

-CCDC57chr17

80113504

-
intron-intronENST00000512673ENST00000392343ALYREFchr17

79846317

-CCDC57chr17

80113504

-

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FusionProtFeatures for ALYREF_CCDC57


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ALYREF

Q86V81

CCDC57

Q2TAC2

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ALYREF_CCDC57


check button 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 ALYREF_CCDC57


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
ALYREFDDX39A, 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, LMNACCDC57KIAA0368, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ALYREF_CCDC57


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ALYREF_CCDC57


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALYREFC0019693HIV Infections1CTD_human