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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: 34762

FusionGeneSummary for SMAD9_CCNA1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAD9_CCNA1
Fusion gene ID: 34762
HgeneTgene
Gene symbol

SMAD9

CCNA1

Gene ID

4093

8900

Gene nameSMAD family member 9cyclin A1
SynonymsMADH6|MADH9|PPH2|SMAD8|SMAD8/9|SMAD8A|SMAD8BCT146
Cytomap

13q13.3

13q13.3

Type of geneprotein-codingprotein-coding
Descriptionmothers against decapentaplegic homolog 9MAD homolog 9Mothers against decapentaplegic, drosophila, homolog of, 9SMAD, mothers against DPP homolog 9cyclin-A1testicular tissue protein Li 34
Modification date2018051920180523
UniProtAcc

O15198

P78396

Ensembl transtripts involved in fusion geneENST00000350148, ENST00000379826, 
ENST00000483941, ENST00000399275, 
ENST00000449823, ENST00000440264, 
ENST00000463403, ENST00000418263, 
ENST00000255465, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: SMAD9 [Title/Abstract] AND CCNA1 [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

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
TCGARVPRADTCGA-J4-AATZ-01ASMAD9chr13

37427556

-CCNA1chr13

37007170

+
* 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
5CDS-5UTRENST00000350148ENST00000449823SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-5UTRENST00000350148ENST00000440264SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-3UTRENST00000350148ENST00000463403SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-3UTRENST00000350148ENST00000418263SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-3UTRENST00000350148ENST00000255465SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-5UTRENST00000379826ENST00000449823SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-5UTRENST00000379826ENST00000440264SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-3UTRENST00000379826ENST00000463403SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-3UTRENST00000379826ENST00000418263SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-3UTRENST00000379826ENST00000255465SMAD9chr13

37427556

-CCNA1chr13

37007170

+
intron-5UTRENST00000483941ENST00000449823SMAD9chr13

37427556

-CCNA1chr13

37007170

+
intron-5UTRENST00000483941ENST00000440264SMAD9chr13

37427556

-CCNA1chr13

37007170

+
intron-3UTRENST00000483941ENST00000463403SMAD9chr13

37427556

-CCNA1chr13

37007170

+
intron-3UTRENST00000483941ENST00000418263SMAD9chr13

37427556

-CCNA1chr13

37007170

+
intron-3UTRENST00000483941ENST00000255465SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-5UTRENST00000399275ENST00000449823SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-5UTRENST00000399275ENST00000440264SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-3UTRENST00000399275ENST00000463403SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-3UTRENST00000399275ENST00000418263SMAD9chr13

37427556

-CCNA1chr13

37007170

+
5CDS-3UTRENST00000399275ENST00000255465SMAD9chr13

37427556

-CCNA1chr13

37007170

+

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FusionProtFeatures for SMAD9_CCNA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMAD9

O15198

CCNA1

P78396

Transcriptional modulator activated by BMP (bonemorphogenetic proteins) type 1 receptor kinase. SMAD9 is areceptor-regulated SMAD (R-SMAD). May be involved in the control of the cell cycle at theG1/S (start) and G2/M (mitosis) transitions. May primarilyfunction in the control of the germline meiotic cell cycle andadditionally in the control of mitotic cell cycle in some somaticcells. {ECO:0000269|PubMed:10022926}.

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 SMAD9_CCNA1


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 SMAD9_CCNA1


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
SMAD9SMAD4, SMAD9, TOB1, HMGA2, KAT2A, KAT2B, NOTCH1, UBA6, MTMR11, EIF3F, PIR, KMT2D, KDM6A, ZEB2, MCM3AP, MAN1A2, SF3B1, DKK1, AP2A1, CSH1, CSH2, FTL, CYP11A1, PSAP, SNRNP70, RFX1, MGAT1, YWHAQ, ARNT, GRN, PHKA2, QARS, PSMD8, ZNF83, AFF1, METAP1, TERF1, EIF3E, ACTB, DSTN, LMO4, SPTBN1, FLI1, DST, PPARD, PAPPA, PABPC4, TRIM29, TRIP12, PLEC, SMAD2, PPP2R5E, CAMSAP1, RNF123, CEP135, E4F1, CTR9, TTC37, CXXC5, EVC2, CHPF, PELP1, VPS8, TMEM57, ZNF557, ZSCAN4, EXPH5, ARID1B, ZNF592, ZNF587B, ABTB1, PNPLA2, DNAJA3, OTUB1, VCPIP1, SVEP1, ERVV-1, ASB2, RANBP9, SECISBP2, EIF3C, DNAJC7, PKP2, ARHGAP9, TBCD, TINAGL1, CLPB, SIL1, UNC45A, C10orf2, RMND5A, HEYL, MAN1C1, BAZ1A, UBQLN4, DIAPH3, MTMR10, RRBP1, ASH2L, LRP5, NAGK, UBQLN1, LEMD3, HEY1, KDM1A, PRMT6, SMAD3, PSG9, DSG4, VSIG8, SMAD7, ZNF143, SMAP2, RBMS1CCNA1CCAR2, TGFB1I1, VPS18, MCC, GPS2, XRCC6, GNB2L1, RBM4, INCA1, KLHDC9, PROCA1, PARK2, HIST1H1A, HIST1H2BA, CDK2, CDK1, CUX1, MYBL2, E2F1, RB1, RBL1, RBL2, CDC25A, CDC20, SKP2, CDKN1B, CDT1, SP1, USP2, MCM4, HIST1H1B, PGR, SRC, FZR1, NPAT, RPA1, PPP1CA, CUL1, COPS5, COPS6, CDKN1A, MCM6, CTNNB1, HECW2, CKS2, CKS1B, CCNA2, PTK2


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 SMAD9_CCNA1


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 SMAD9_CCNA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMAD9C3888002PULMONARY HYPERTENSION, PRIMARY, 21UNIPROT
TgeneCCNA1C0950124Papillomavirus Infections1CTD_human
TgeneCCNA1C1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneCCNA1C2239176Liver carcinoma1CTD_human