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Fusion gene ID: 8334 |
FusionGeneSummary for CPSF6_SMR3B |
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Fusion gene information | Fusion gene name: CPSF6_SMR3B | Fusion gene ID: 8334 | Hgene | Tgene | Gene symbol | CPSF6 | SMR3B | Gene ID | 11052 | 10879 |
Gene name | cleavage and polyadenylation specific factor 6 | submaxillary gland androgen regulated protein 3B | |
Synonyms | CFIM|CFIM68|CFIM72|HPBRII-4|HPBRII-7 | P-B|PBII|PRL3|PROL3|SMR1B | |
Cytomap | 12q15 | 4q13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | cleavage and polyadenylation specificity factor subunit 6CPSF 68 kDa subunitcleavage and polyadenylation specific factor 6, 68kDacleavage and polyadenylation specificity factor 68 kDa subunitcleavage factor Im complex 68 kDa subunitpre-mRNA cleavage | submaxillary gland androgen-regulated protein 3Bproline rich 3proline-rich peptide P-Bproline-rich protein 3salivary proline-rich proteinsubmaxillary gland androgen regulated protein 3 homolog B | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q16630 | P02814 | |
Ensembl transtripts involved in fusion gene | ENST00000435070, ENST00000456847, ENST00000266679, ENST00000550987, ENST00000551516, | ENST00000504825, ENST00000304915, | |
Fusion gene scores | * DoF score | 23 X 6 X 11=1518 | 9 X 8 X 2=144 |
# samples | 26 | 3 | |
** MAII score | log2(26/1518*10)=-2.54558826238701 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/144*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CPSF6 [Title/Abstract] AND SMR3B [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 | CPSF6 | GO:0006397 | mRNA processing | 14690600 |
Hgene | CPSF6 | GO:0051262 | protein tetramerization | 20695905 |
Hgene | CPSF6 | GO:0051290 | protein heterotetramerization | 23187700 |
Hgene | CPSF6 | GO:1990120 | messenger ribonucleoprotein complex assembly | 29276085 |
![]() (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 | BRCA | TCGA-AN-A0G0-01A | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
* 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 |
5CDS-intron | ENST00000435070 | ENST00000504825 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
5CDS-3UTR | ENST00000435070 | ENST00000304915 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
5CDS-intron | ENST00000456847 | ENST00000504825 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
5CDS-3UTR | ENST00000456847 | ENST00000304915 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
5CDS-intron | ENST00000266679 | ENST00000504825 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
5CDS-3UTR | ENST00000266679 | ENST00000304915 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
intron-intron | ENST00000550987 | ENST00000504825 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
intron-3UTR | ENST00000550987 | ENST00000304915 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
intron-intron | ENST00000551516 | ENST00000504825 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
intron-3UTR | ENST00000551516 | ENST00000304915 | CPSF6 | chr12 | 69652693 | + | SMR3B | chr4 | 71255684 | + |
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FusionProtFeatures for CPSF6_SMR3B |
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Hgene | Tgene |
CPSF6 | SMR3B |
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:9659921, PubMed:8626397,PubMed:14690600, PubMed:29276085). CFIm contributes to therecruitment of multiprotein complexes on specific sequences on thepre-mRNA 3'-end, so called cleavage and polyadenylation signals(pA signals) (PubMed:9659921, PubMed:8626397, PubMed:14690600).Most pre-mRNAs contain multiple pA signals, resulting inalternative cleavage and polyadenylation (APA) producing mRNAswith variable 3'-end formation (PubMed:23187700, PubMed:29276085).The CFIm complex acts as a key regulator of cleavage andpolyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) fora huge number of pre-mRNAs (PubMed:20695905, PubMed:29276085).CPSF6 enhances NUDT21/CPSF5 binding to 5'-UGUA-3' elementslocalized upstream of pA signals and promotes RNA looping, andhence activates directly the mRNA 3'-processing machinery(PubMed:15169763, PubMed:29276085, PubMed:21295486). Plays a rolein mRNA export (PubMed:19864460). {ECO:0000269|PubMed:14690600,ECO:0000269|PubMed:15169763, ECO:0000269|PubMed:19864460,ECO:0000269|PubMed:20695905, ECO:0000269|PubMed:21295486,ECO:0000269|PubMed:23187700, ECO:0000269|PubMed:29276085,ECO:0000269|PubMed:8626397, ECO:0000269|PubMed:9659921}. |
![]() * 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 CPSF6_SMR3B |
![]() (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 CPSF6_SMR3B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CPSF6 | PLSCR1, GIN1, WWP1, EWSR1, ARMC7, KLHL12, NUDT21, UBAC1, WWP2, NCK2, RNPS1, CREBBP, PAPOLA, ITCH, NEDD4, WWOX, APBB1, TCERG1, MME, CLP1, ITSN2, HNRNPA1, CUL3, CAND1, UBQLN4, U2AF2, UBAP2L, NONO, WBP11, CPSF7, PUF60, CSTF2, POLR2I, NUP88, TCEA2, ZBTB8B, CSNK1A1, SAFB, MAX, STRN, TBC1D2, TTN, NUP107, BARD1, MDC1, SMURF1, NPM1, FN1, CSNK2A1, TP63, DAB2, CD81, LMNA, SRPK2, PRPF40A, WBP4, FXR2, FUS, PPIL1, TOLLIP, OTUB2, CUL7, OBSL1, CCDC8, EZH2, SUZ12, EED, RSRP1, LUC7L2, DDX17, DDX5, KHSRP, SMARCB1, TXNDC9, PCF11, SMARCC1, SMARCC2, SMEK1, NTRK1, XPO1, VPS26A, NF2, SNW1, JMJD6, RBBP6, PA2G4, TRAP1, SND1, ANXA5, MYL12B, SNRPB2, UBE2N, COQ2, DLD, HSD17B10, PARK7, G3BP1 | SMR3B | RAD21, UBQLN1, UBTD2, RASSF10, BCHE, TNFRSF19, SNRPF |
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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 CPSF6_SMR3B |
![]() (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 CPSF6_SMR3B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |