|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 34745 |
FusionGeneSummary for SMAD3_SLC9A9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMAD3_SLC9A9 | Fusion gene ID: 34745 | Hgene | Tgene | Gene symbol | SMAD3 | SLC9A9 | Gene ID | 4088 | 285195 |
| Gene name | SMAD family member 3 | solute carrier family 9 member A9 | |
| Synonyms | HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3 | AUTS16|NHE9 | |
| Cytomap | 15q22.33 | 3q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mothers against decapentaplegic homolog 3MAD homolog 3MAD, mothers against decapentaplegic homolog 3SMA- and MAD-related protein 3SMAD, mothers against DPP homolog 3hMAD-3hSMAD3mad homolog JV15-2mad protein homologmad3mothers against DPP homolog | sodium/hydrogen exchanger 9Na(+)/H(+) exchanger 9putative protein product of Nbla00118sodium/proton exchanger NHE9solute carrier family 9 (sodium/hydrogen exchanger)solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P84022 | Q8IVB4 | |
| Ensembl transtripts involved in fusion gene | ENST00000327367, ENST00000559092, ENST00000540846, ENST00000439724, ENST00000537194, | ENST00000316549, ENST00000498717, | |
| Fusion gene scores | * DoF score | 15 X 10 X 10=1500 | 7 X 7 X 5=245 |
| # samples | 22 | 7 | |
| ** MAII score | log2(22/1500*10)=-2.76938707185858 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMAD3 [Title/Abstract] AND SLC9A9 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | SMAD3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8774881 |
| Hgene | SMAD3 | GO:0006357 | regulation of transcription by RNA polymerase II | 21947082 |
| Hgene | SMAD3 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9732876|18548003|21947082 |
| Hgene | SMAD3 | GO:0007183 | SMAD protein complex assembly | 9111321|10823886 |
| Hgene | SMAD3 | GO:0010628 | positive regulation of gene expression | 21307346 |
| Hgene | SMAD3 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 21307346 |
| Hgene | SMAD3 | GO:0019049 | evasion or tolerance of host defenses by virus | 15334054 |
| Hgene | SMAD3 | GO:0030308 | negative regulation of cell growth | 8774881 |
| Hgene | SMAD3 | GO:0045429 | positive regulation of nitric oxide biosynthetic process | 27038547 |
| Hgene | SMAD3 | GO:0045599 | negative regulation of fat cell differentiation | 19816956 |
| Hgene | SMAD3 | GO:0045893 | positive regulation of transcription, DNA-templated | 9111321|9311995|9732876 |
| Hgene | SMAD3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8774881|18832382 |
| Hgene | SMAD3 | GO:0051481 | negative regulation of cytosolic calcium ion concentration | 27038547 |
| Hgene | SMAD3 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 12902338 |
| Hgene | SMAD3 | GO:1901203 | positive regulation of extracellular matrix assembly | 21307346 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | KIRC | TCGA-CW-5581-01A | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-intron | ENST00000327367 | ENST00000316549 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| 5CDS-intron | ENST00000327367 | ENST00000498717 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| intron-intron | ENST00000559092 | ENST00000316549 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| intron-intron | ENST00000559092 | ENST00000498717 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| intron-intron | ENST00000540846 | ENST00000316549 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| intron-intron | ENST00000540846 | ENST00000498717 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| intron-intron | ENST00000439724 | ENST00000316549 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| intron-intron | ENST00000439724 | ENST00000498717 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| intron-intron | ENST00000537194 | ENST00000316549 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
| intron-intron | ENST00000537194 | ENST00000498717 | SMAD3 | chr15 | 67358698 | + | SLC9A9 | chr3 | 142987831 | - |
Top |
FusionProtFeatures for SMAD3_SLC9A9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMAD3 | SLC9A9 |
| May act in electroneutral exchange of protons for Na(+)across membranes. Involved in the effusion of Golgi luminal H(+)in exchange for cytosolic cations. Involved in organelle ionhomeostasis by contributing to the maintenance of the uniqueacidic pH values of the Golgi and post-Golgi compartments in thecell. {ECO:0000269|PubMed:15522866}. |
| Retention 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 . * 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 |
Top |
FusionGeneSequence for SMAD3_SLC9A9 |
| 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). |
Top |
FusionGenePPI for SMAD3_SLC9A9 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| SMAD3 | ATF2, NEDD9, AR, BRCA2, PML, ZFYVE9, ANAPC10, FOXO1, FOXO4, FOXO3, SMAD4, BTRC, PIAS3, RNF111, NOTCH1, EID2, NR3C1, SKI, HIPK2, PIAS4, ZEB1, ATF3, DVL1, ERBB2IP, TGIF1, TGIF2, MDM4, SKIL, CDC27, CDC16, DAB2, JUN, FOS, KPNB1, RBL1, E2F4, CTNNB1, RUNX2, TFE3, MAX, SMURF2, AKT1, SMAD2, MECOM, FOXH1, MEN1, NFYC, MYC, SP1, JUNB, JUND, RUNX1, RUNX3, SNW1, STRAP, SMAD7, ACVR1B, CEBPA, CEBPB, CEBPD, LEF1, PIN1, CSNK1G2, GSK3B, KDM5C, BMP7, FOXL2, UCHL5, PRDM16, BPTF, CDC25A, CUL1, FLI1, HOXC11, SS18L1, ZBTB3, NEDD4, EP300, CITED2, WWP1, SMURF1, ITCH, GRIP1, MYOCD, YY1, MED15, MED24, MED6, KAT2B, HDAC5, HDAC4, CREBBP, TOB1, BRCA1, SOX9, PITX1, PITX2, HDAC1, SIN3A, VDR, KAT2A, SMARCC2, ARID1A, SMARCC1, SMARCA4, TRIM33, NCOA3, RBX1, CTCF, KDM6B, ESR1, SRY, ACTB, PRTN3, SREBF2, STUB1, WWP2, MKL1, USP9X, NFIC, HNF4A, TP53, NUP214, NUP153, USP15, CDK8, CDK9, MAPK1, YAP1, DACH1, EPAS1, RGCC, SUV39H1, TCF12, CBL, ZEB2, NEDD4L, TRIB3, HGS, PAX6, ZMIZ1, PIAS2, CSNK1D, DDX3Y, HSPA4, LEMD3, PJA1, RPL3, ATXN2L, FAM83G, CHD8, RPSAP15, SLC25A12, SLC9A3R2, LRCH1, YTHDF2, TCP1, EPB41L5, PTPN6, DOCK9, PSPC1, DDX4, DDX3X, DNAJA2, SIK3, U2AF2, DHX8, C1orf116, ITGB4, CDK11A, RAB11FIP5, SMAD1, IRS1, SMAD5, DYRK1A, BUB3, SQRDL, PABPC1, DCAF7, OPA1, VAV2, USP7, RPL4, TGFBR1, S100A4, CHUK, APP, SMAD3, CDK4, CDK2, HIF1A, ELAC2, NOTCH4, PSMD11, MCM3AP, CYP11A1, RPLP0, SNRNP70, XRCC6, HIVEP1, FLNA, TGM2, PPP2R1A, ZNF83, CSH2, ZBTB16, PCDH1, PAPPA, TMED1, ANK3, EBI3, NCOA6, PLAG1, CXXC5, KANSL1, ZNF329, GGA1, SVEP1, RANBP9, SAP130, C10orf54, HEYL, CFDP1, ST6GALNAC2, PRDM4, PLAGL1, KMT2B, KDM2A, MTF2, HEY1, GMEB1, SPTBN1, DEDD, SH2D2A, LCK, PIK3CA, KLF5, IRF7, TSC2, FHL1, FHL2, FHL3, TGFB1I1, BAG3, MYD88, PCK2, SQSTM1, PPP1R12C, RNF31, ZC3H12A, TSC22D4, SETD2, CHRD, APMAP, HNRNPK, PARP4, PLG, CFH, AATF, FBLN1, ZMYND11, UBQLN4, TDP2, TF, APOB, NR4A1, HP, ISL1, LBP, PROX1, RCVRN, RELA, RPA1, TLR4, CFLAR, GIT2, TANK, DNAJB4, CORO1A, ZCCHC14, SERTAD1, RIOK2, CPTP, OTUB1, TP63, TRIM62, FOXM1, MAFK, BACH1, AES, PHC2, MEOX2, BLZF1, CPSF7, CCDC33, TEKT4, PPARG, DDX5, EIF4B, XPO6, SMAD9, LACRT, LDLRAD4, NFIA, NCOA1, PARD3, CAMK2G, ETS1, MAP3K7, MAPK8, CDKN1A, NF2, DNMT3L, TRIM25 | SLC9A9 | ZDHHC17, TP53 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for SMAD3_SLC9A9 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for SMAD3_SLC9A9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMAD3 | C0029408 | Degenerative polyarthritis | 2 | CTD_human |
| Hgene | SMAD3 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Hgene | SMAD3 | C3151087 | LOEYS-DIETZ SYNDROME 3 | 2 | ORPHANET;UNIPROT |
| Hgene | SMAD3 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
| Hgene | SMAD3 | C0003486 | Aortic Aneurysm | 1 | CTD_human;HPO |
| Hgene | SMAD3 | C0010346 | Crohn Disease | 1 | CTD_human |
| Hgene | SMAD3 | C0023267 | Fibroid Tumor | 1 | CTD_human |
| Hgene | SMAD3 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Hgene | SMAD3 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
| Hgene | SMAD3 | C0042138 | Uterine Neoplasms | 1 | CTD_human |
| Hgene | SMAD3 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
| Hgene | SMAD3 | C2697932 | Loeys-Dietz Syndrome | 1 | CTD_human |
| Hgene | SMAD3 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | SLC9A9 | C0004352 | Autistic Disorder | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|