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Fusion gene ID: 31077 |
FusionGeneSummary for RFXAP_SMAD9 |
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Fusion gene information | Fusion gene name: RFXAP_SMAD9 | Fusion gene ID: 31077 | Hgene | Tgene | Gene symbol | RFXAP | SMAD9 | Gene ID | 5994 | 4093 |
Gene name | regulatory factor X associated protein | SMAD family member 9 | |
Synonyms | - | MADH6|MADH9|PPH2|SMAD8|SMAD8/9|SMAD8A|SMAD8B | |
Cytomap | 13q13.3 | 13q13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | regulatory factor X-associated proteinRFX DNA-binding complex 36 kDa subunitRFX-associated protein | mothers against decapentaplegic homolog 9MAD homolog 9Mothers against decapentaplegic, drosophila, homolog of, 9SMAD, mothers against DPP homolog 9 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | O00287 | O15198 | |
Ensembl transtripts involved in fusion gene | ENST00000255476, ENST00000472888, | ENST00000350148, ENST00000379826, ENST00000483941, ENST00000399275, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
# samples | 1 | 2 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: RFXAP [Title/Abstract] AND SMAD9 [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 |
![]() (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 | RV | DLBC | TCGA-VB-A8QN-01A | RFXAP | chr13 | 37394094 | + | SMAD9 | chr13 | 37454012 | - |
* 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-5UTR | ENST00000255476 | ENST00000350148 | RFXAP | chr13 | 37394094 | + | SMAD9 | chr13 | 37454012 | - |
5CDS-5UTR | ENST00000255476 | ENST00000379826 | RFXAP | chr13 | 37394094 | + | SMAD9 | chr13 | 37454012 | - |
5CDS-5UTR | ENST00000255476 | ENST00000483941 | RFXAP | chr13 | 37394094 | + | SMAD9 | chr13 | 37454012 | - |
5CDS-intron | ENST00000255476 | ENST00000399275 | RFXAP | chr13 | 37394094 | + | SMAD9 | chr13 | 37454012 | - |
intron-5UTR | ENST00000472888 | ENST00000350148 | RFXAP | chr13 | 37394094 | + | SMAD9 | chr13 | 37454012 | - |
intron-5UTR | ENST00000472888 | ENST00000379826 | RFXAP | chr13 | 37394094 | + | SMAD9 | chr13 | 37454012 | - |
intron-5UTR | ENST00000472888 | ENST00000483941 | RFXAP | chr13 | 37394094 | + | SMAD9 | chr13 | 37454012 | - |
intron-intron | ENST00000472888 | ENST00000399275 | RFXAP | chr13 | 37394094 | + | SMAD9 | chr13 | 37454012 | - |
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FusionProtFeatures for RFXAP_SMAD9 |
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Hgene | Tgene |
RFXAP | SMAD9 |
Part of the RFX complex that binds to the X-box of MHCII promoters. | Transcriptional modulator activated by BMP (bonemorphogenetic proteins) type 1 receptor kinase. SMAD9 is areceptor-regulated SMAD (R-SMAD). |
![]() * 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 RFXAP_SMAD9 |
![]() (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 RFXAP_SMAD9 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RFXAP | RFX5, RFXANK, HDAC4, MLLT1, NCL, NHP2L1, EPS8, REV3L, ANKRA2 | SMAD9 | SMAD4, 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, RBMS1 |
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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 RFXAP_SMAD9 |
![]() (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 RFXAP_SMAD9 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SMAD9 | C3888002 | PULMONARY HYPERTENSION, PRIMARY, 2 | 1 | UNIPROT |