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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: 9500

FusionGeneSummary for DDB1_CPSF7

check button Fusion gene summary
Fusion gene informationFusion gene name: DDB1_CPSF7
Fusion gene ID: 9500
HgeneTgene
Gene symbol

DDB1

CPSF7

Gene ID

1642

79869

Gene namedamage specific DNA binding protein 1cleavage and polyadenylation specific factor 7
SynonymsDDBA|UV-DDB1|XAP1|XPCE|XPE|XPE-BFCFIm59
Cytomap

11q12.2

11q12.2

Type of geneprotein-codingprotein-coding
DescriptionDNA damage-binding protein 1DDB p127 subunitDNA damage-binding protein aHBV X-associated protein 1UV-DDB 1UV-damaged DNA-binding factorUV-damaged DNA-binding protein 1XAP-1XPE-binding factordamage-specific DNA binding protein 1, 127kDaxeroderma cleavage and polyadenylation specificity factor subunit 7CPSF 59 kDa subunitcleavage and polyadenylation specificity factor 59 kDa subunitcleavage factor Im complex 59 kDa subunitpre-mRNA cleavage factor I, 59 kDa subunitpre-mRNA cleavage factor Im 5
Modification date2018052320180519
UniProtAcc

Q16531

Q8N684

Ensembl transtripts involved in fusion geneENST00000301764, ENST00000450997, 
ENST00000451943, ENST00000538470, 
ENST00000545930, 
ENST00000340437, 
ENST00000394888, ENST00000439958, 
ENST00000494016, ENST00000448745, 
ENST00000541963, 
Fusion gene scores* DoF score12 X 12 X 6=8645 X 5 X 4=100
# samples 146
** MAII scorelog2(14/864*10)=-2.6256044852185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDB1 [Title/Abstract] AND CPSF7 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneDDB1

GO:0006511

ubiquitin-dependent protein catabolic process

11673459

HgeneDDB1

GO:0035518

histone H2A monoubiquitination

22334663

HgeneDDB1

GO:0051702

interaction with symbiont

23137809

HgeneDDB1

GO:0070914

UV-damage excision repair

22334663

TgeneCPSF7

GO:0051262

protein tetramerization

20695905

TgeneCPSF7

GO:0051290

protein heterotetramerization

23187700

TgeneCPSF7

GO:1990120

messenger ribonucleoprotein complex assembly

29276085


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
TCGARVESCATCGA-L5-A8NI-01ADDB1chr11

61080971

-CPSF7chr11

61183991

-
TCGARVLIHCTCGA-BC-A10Y-01ADDB1chr11

61099015

-CPSF7chr11

61189080

-
* 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
Frame-shiftENST00000301764ENST00000340437DDB1chr11

61080971

-CPSF7chr11

61183991

-
Frame-shiftENST00000301764ENST00000394888DDB1chr11

61080971

-CPSF7chr11

61183991

-
Frame-shiftENST00000301764ENST00000439958DDB1chr11

61080971

-CPSF7chr11

61183991

-
5CDS-intronENST00000301764ENST00000494016DDB1chr11

61080971

-CPSF7chr11

61183991

-
5CDS-intronENST00000301764ENST00000448745DDB1chr11

61080971

-CPSF7chr11

61183991

-
5CDS-intronENST00000301764ENST00000541963DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000450997ENST00000340437DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000450997ENST00000394888DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000450997ENST00000439958DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000450997ENST00000494016DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000450997ENST00000448745DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000450997ENST00000541963DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000451943ENST00000340437DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000451943ENST00000394888DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000451943ENST00000439958DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000451943ENST00000494016DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000451943ENST00000448745DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000451943ENST00000541963DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000538470ENST00000340437DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000538470ENST00000394888DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000538470ENST00000439958DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000538470ENST00000494016DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000538470ENST00000448745DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000538470ENST00000541963DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000545930ENST00000340437DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000545930ENST00000394888DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-3CDSENST00000545930ENST00000439958DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000545930ENST00000494016DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000545930ENST00000448745DDB1chr11

61080971

-CPSF7chr11

61183991

-
intron-intronENST00000545930ENST00000541963DDB1chr11

61080971

-CPSF7chr11

61183991

-
In-frameENST00000301764ENST00000340437DDB1chr11

61099015

-CPSF7chr11

61189080

-
In-frameENST00000301764ENST00000394888DDB1chr11

61099015

-CPSF7chr11

61189080

-
In-frameENST00000301764ENST00000439958DDB1chr11

61099015

-CPSF7chr11

61189080

-
5CDS-intronENST00000301764ENST00000494016DDB1chr11

61099015

-CPSF7chr11

61189080

-
5CDS-intronENST00000301764ENST00000448745DDB1chr11

61099015

-CPSF7chr11

61189080

-
5CDS-intronENST00000301764ENST00000541963DDB1chr11

61099015

-CPSF7chr11

61189080

-
In-frameENST00000450997ENST00000340437DDB1chr11

61099015

-CPSF7chr11

61189080

-
In-frameENST00000450997ENST00000394888DDB1chr11

61099015

-CPSF7chr11

61189080

-
In-frameENST00000450997ENST00000439958DDB1chr11

61099015

-CPSF7chr11

61189080

-
5CDS-intronENST00000450997ENST00000494016DDB1chr11

61099015

-CPSF7chr11

61189080

-
5CDS-intronENST00000450997ENST00000448745DDB1chr11

61099015

-CPSF7chr11

61189080

-
5CDS-intronENST00000450997ENST00000541963DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-3CDSENST00000451943ENST00000340437DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-3CDSENST00000451943ENST00000394888DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-3CDSENST00000451943ENST00000439958DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-intronENST00000451943ENST00000494016DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-intronENST00000451943ENST00000448745DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-intronENST00000451943ENST00000541963DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-3CDSENST00000538470ENST00000340437DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-3CDSENST00000538470ENST00000394888DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-3CDSENST00000538470ENST00000439958DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-intronENST00000538470ENST00000494016DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-intronENST00000538470ENST00000448745DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-intronENST00000538470ENST00000541963DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-3CDSENST00000545930ENST00000340437DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-3CDSENST00000545930ENST00000394888DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-3CDSENST00000545930ENST00000439958DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-intronENST00000545930ENST00000494016DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-intronENST00000545930ENST00000448745DDB1chr11

61099015

-CPSF7chr11

61189080

-
intron-intronENST00000545930ENST00000541963DDB1chr11

61099015

-CPSF7chr11

61189080

-

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FusionProtFeatures for DDB1_CPSF7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DDB1

Q16531

CPSF7

Q8N684

Required for DNA repair. Binds to DDB2 to form the UV-damaged DNA-binding protein complex (the UV-DDB complex). The UV-DDB complex may recognize UV-induced DNA damage and recruitproteins of the nucleotide excision repair pathway (the NERpathway) to initiate DNA repair. The UV-DDB complex preferentiallybinds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts(6-4 PP), apurinic sites and short mismatches. Also appears tofunction as a component of numerous distinct DCX (DDB1-CUL4-X-box)E3 ubiquitin-protein ligase complexes which mediate theubiquitination and subsequent proteasomal degradation of targetproteins. The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substraterecognition component recruited by DDB1. DCX(DDB2) (also known asDDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinatehistone H2A, histone H3 and histone H4 at sites of UV-induced DNAdamage. The ubiquitination of histones may facilitate theirremoval from the nucleosome and promote subsequent DNA repair.DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding byXPC and promote NER. DCX(DTL) plays a role in PCNA-dependentpolyubiquitination of CDT1 and MDM2-dependent ubiquitination ofTP53 in response to radiation-induced DNA damage and during DNAreplication. DCX(ERCC8) (the CSA complex) plays a role intranscription-coupled repair (TCR). May also play a role inubiquitination of CDKN1B/p27kip when associated with CUL4 andSKP2. {ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:14739464,ECO:0000269|PubMed:15448697, ECO:0000269|PubMed:15882621,ECO:0000269|PubMed:16260596, ECO:0000269|PubMed:16407242,ECO:0000269|PubMed:16407252, ECO:0000269|PubMed:16473935,ECO:0000269|PubMed:16482215, ECO:0000269|PubMed:16678110,ECO:0000269|PubMed:16940174, ECO:0000269|PubMed:17041588,ECO:0000269|PubMed:17079684, ECO:0000269|PubMed:18332868,ECO:0000269|PubMed:18381890, ECO:0000269|PubMed:18593899,ECO:0000269|PubMed:19966799, ECO:0000269|PubMed:22118460,ECO:0000269|PubMed:25043012, ECO:0000269|PubMed:25108355}. Component of the cleavage factor Im (CFIm) complex thatfunctions as an activator of the pre-mRNA 3'-end cleavage andpolyadenylation processing required for the maturation of pre-mRNAinto functional mRNAs (PubMed:8626397, PubMed:17024186,PubMed:29276085). CFIm contributes to the recruitment ofmultiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals)(PubMed:8626397, PubMed:17024186). Most pre-mRNAs contain multiplepA signals, resulting in alternative cleavage and polyadenylation(APA) producing mRNAs with variable 3'-end formation(PubMed:23187700, PubMed:29276085). The CFIm complex acts as a keyregulator of cleavage and polyadenylation site choice during APAthrough its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs(PubMed:20695905, PubMed:29276085). CPSF7 activates directly themRNA 3'-processing machinery (PubMed:29276085). Binds to pAsignals in RNA substrates (PubMed:8626397, PubMed:17024186).{ECO:0000269|PubMed:17024186, ECO:0000269|PubMed:20695905,ECO:0000269|PubMed:23187700, ECO:0000269|PubMed:29276085,ECO:0000269|PubMed:8626397}.

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
TgeneCPSF7chr11:61099015chr11:61189080ENST00000340437-110218_329611168Compositional biasNote=Pro-rich
TgeneCPSF7chr11:61099015chr11:61189080ENST00000340437-110418_469611168Compositional biasNote=Arg-rich
TgeneCPSF7chr11:61099015chr11:61189080ENST00000394888-110218_329181137Compositional biasNote=Pro-rich
TgeneCPSF7chr11:61099015chr11:61189080ENST00000394888-110418_469181137Compositional biasNote=Arg-rich
TgeneCPSF7chr11:61099015chr11:61189080ENST00000394888-11051_54181137Compositional biasNote=Poly-Pro
TgeneCPSF7chr11:61099015chr11:61189080ENST00000439958-110218_329181107Compositional biasNote=Pro-rich
TgeneCPSF7chr11:61099015chr11:61189080ENST00000439958-110418_469181107Compositional biasNote=Arg-rich
TgeneCPSF7chr11:61099015chr11:61189080ENST00000439958-11051_54181107Compositional biasNote=Poly-Pro
TgeneCPSF7chr11:61099015chr11:61189080ENST00000448745-09218_32918500Compositional biasNote=Pro-rich
TgeneCPSF7chr11:61099015chr11:61189080ENST00000448745-09418_46918500Compositional biasNote=Arg-rich
TgeneCPSF7chr11:61099015chr11:61189080ENST00000448745-0951_5418500Compositional biasNote=Poly-Pro
TgeneCPSF7chr11:61099015chr11:61189080ENST00000340437-11082_162611168DomainRRM
TgeneCPSF7chr11:61099015chr11:61189080ENST00000394888-11082_162181137DomainRRM
TgeneCPSF7chr11:61099015chr11:61189080ENST00000439958-11082_162181107DomainRRM
TgeneCPSF7chr11:61099015chr11:61189080ENST00000448745-0982_16218500DomainRRM

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDDB1chr11:61099015chr11:61189080ENST00000301764-22713_356701141RegionNote=WD repeat beta-propeller A
HgeneDDB1chr11:61099015chr11:61189080ENST00000301764-227709_1043701141RegionNote=WD repeat beta-propeller C
TgeneCPSF7chr11:61099015chr11:61189080ENST00000340437-11051_54611168Compositional biasNote=Poly-Pro


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FusionGeneSequence for DDB1_CPSF7


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 DDB1_CPSF7


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
DDB1DET1, RFWD2, DDB2, SUPT3H, KAT2A, CDKN1A, CUL4A, CUL4B, FBXW5, NF2, POLR2J, GPN1, PMS2, UBC, PCNA, TRPC4AP, DDA1, NEDD8, CRBN, COPS3, COPS4, COPS5, COPS2, COPS8, COPS7B, COPS7A, COPS6, DCAF11, DCAF5, BRWD1, PHIP, DCAF6, DCAF12, DCAF10, DCAF4, WDTC1, DCAF8, ERCC8, VPRBP, DTL, AMBRA1, DCAF7, DCAF13, DCAF15, DCAF16, DCAF17, GPS1, RBX1, SKP2, TOR1AIP2, BANF1, XPC, HOXD3, CNOT2, MAFB, ZNF277, EED, RBBP5, HIST1H3A, CAND1, CDT1, CDKN1B, CENPA, CHEK1, TADA2A, TERF1, TERF2, SETD8, ERCC6, SNW1, UNG, HDAC5, UBXN7, FAF2, UBXN1, DYRK2, UBR5, KATNA1, MYC, RASSF1, RAG1, RAG2, CTNNB1, AHR, PIDD1, SALL2, RAD21, UBA1, HOXB4, MCM10, RECQL, SIRT7, SAMHD1, EP300, UBE2E3, POLR2A, FBXW8, WSB1, WSB2, NUP43, BTRC, PWP1, RBBP4, GRWD1, CUL3, CUL5, CUL1, DCUN1D1, SLX4, DCLRE1C, MYB, PTPN14, LRWD1, MDM2, KCND3, FZR1, E2F1, ABL1, RORA, XPA, GRK5, GRK6, SHC1, TP73, SRSF9, TCERG1, TAF15, PUF60, RPS7, STRIP1, NUP133, TPR, NUMA1, STRN4, TPM2, FLNC, ATP6V1F, NCOA5, CSTF2, RANBP9, VTN, NXF1, SAP30BP, MBD3, RTN4, RPTOR, MTOR, RICTOR, UCHL1, TERT, DDB1, INO80, ACTR5, ALB, DDIT4, INVS, NPHP4, LMO4, UVSSA, STAT1, MEF2A, DYRK1B, TOPBP1, MIB1, DLC1, PIN1, VASP, RPA3, RPA2, RPA1, NR1I2, ASB4, NR2C2, FTSJ3, AURKA, AURKB, CEP250, CEP57, CEP72, TP53, TUBGCP2, HDAC1, HDAC2, SIN3A, ARID4B, SAP130, SUDS3, SAP30, RBP1, HUWE1, IP6K1, BRCA1, HIST1H1A, HIST1H1C, CUL7, OBSL1, SIRT6, CLCN1, EPB41L3, RASSF9, RASSF10, RPS6KB2, BECN1, TRAF6, TET2, TET1, TET3, CORO1B, ACAT1, APEX1, CGGBP1, CLIC1, CLIC4, CMAS, LASP1, MCM5, NHP2L1, PSMA1, SNX2, YARS, LSM2, SF3A3, NTRK1, FBXO44, RGS2, PTEN, EWSR1, CAMKK1, PYGO2, HDAC3, HDAC8, CRY2, GNB2, RBBP7, CDC5L, PCGF1, DPPA4, BCOR, NANOG, POU5F1, DCUN1D5, UVRAG, MYO6, MOAP1, DERL1, ZNF746, CCNG1, CYLD, TRIM25, CEP78, CCP110, DCAF4L2, MUS81, EME1, XRCC5, RNF169CPSF7NUDT21, DVL2, GCC1, SORBS3, PRMT2, EWSR1, NCK2, CLP1, TSG101, ATXN1, SMAD2, HNRNPA1, CPSF6, UBAP2L, TPM2, NDUFS2, MCM2, MRPS31, NUP133, RPS19, OGDH, ERGIC3, FN1, VCAM1, CSNK2A1, DAB2, ITGA4, ITCH, WBP4, APBB1, WWOX, RPA3, RPA2, RPA1, FXR2, STAU1, AES, RUNX1T1, CLK2, SMAD3, EPM2AIP1, SEC23B, SNRNP25, ARMC7, ENO1, SHMT2, MOV10, NXF1, CUL7, OBSL1, EZH2, SUZ12, EED, FAM192A, LUC7L, FAM58A, KHSRP, NTRK1, MED4, MED20, MED23, SRPK2, B9D2, WWP2, CLTC, GAK, PFKFB2, SEC16A, RNPS1, CCDC93, ZNF766, BRINP1, SNW1, CDC5L, JMJD6, DDX20, BCHE, PDHA1, SOD1, FOXA1, G3BP1


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
HgeneDDB1chr11:61099015chr11:61189080ENST00000301764-227771_1140701141CDT1 and CUL4A
HgeneDDB1chr11:61099015chr11:61189080ENST00000301764-2272_768701141CDT1


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


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RelatedDrugs for DDB1_CPSF7


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 DDB1_CPSF7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDB1C0038356Stomach Neoplasms1CTD_human