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Fusion gene ID: 7147 |
FusionGeneSummary for CHP1_SMAD3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHP1_SMAD3 | Fusion gene ID: 7147 | Hgene | Tgene | Gene symbol | CHP1 | SMAD3 | Gene ID | 26973 | 4088 |
| Gene name | cysteine and histidine rich domain containing 1 | SMAD family member 3 | |
| Synonyms | CHP1 | HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3 | |
| Cytomap | 11q14.3 | 15q22.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cysteine and histidine-rich domain-containing protein 1CHORD-containing protein 1CHP-1chord domain-containing protein 1cysteine and histidine-rich domain (CHORD) containing 1cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein | 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 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q99653 | P84022 | |
| Ensembl transtripts involved in fusion gene | ENST00000558351, ENST00000334660, ENST00000560397, | ENST00000327367, ENST00000559092, ENST00000540846, ENST00000439724, ENST00000537194, | |
| Fusion gene scores | * DoF score | 6 X 7 X 4=168 | 4 X 6 X 3=72 |
| # samples | 7 | 7 | |
| ** MAII score | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/72*10)=-0.0406419844973459 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CHP1 [Title/Abstract] AND SMAD3 [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 |
| Tgene | SMAD3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8774881 |
| Tgene | SMAD3 | GO:0006357 | regulation of transcription by RNA polymerase II | 21947082 |
| Tgene | SMAD3 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9732876|18548003|21947082 |
| Tgene | SMAD3 | GO:0007183 | SMAD protein complex assembly | 9111321|10823886 |
| Tgene | SMAD3 | GO:0010628 | positive regulation of gene expression | 21307346 |
| Tgene | SMAD3 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 21307346 |
| Tgene | SMAD3 | GO:0019049 | evasion or tolerance of host defenses by virus | 15334054 |
| Tgene | SMAD3 | GO:0030308 | negative regulation of cell growth | 8774881 |
| Tgene | SMAD3 | GO:0045429 | positive regulation of nitric oxide biosynthetic process | 27038547 |
| Tgene | SMAD3 | GO:0045599 | negative regulation of fat cell differentiation | 19816956 |
| Tgene | SMAD3 | GO:0045893 | positive regulation of transcription, DNA-templated | 9111321|9311995|9732876 |
| Tgene | SMAD3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8774881|18832382 |
| Tgene | SMAD3 | GO:0051481 | negative regulation of cytosolic calcium ion concentration | 27038547 |
| Tgene | SMAD3 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 12902338 |
| Tgene | 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 | OV | TCGA-29-1702-01A | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| * 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 |
| 3UTR-3CDS | ENST00000558351 | ENST00000327367 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 3UTR-intron | ENST00000558351 | ENST00000559092 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 3UTR-intron | ENST00000558351 | ENST00000540846 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 3UTR-intron | ENST00000558351 | ENST00000439724 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 3UTR-intron | ENST00000558351 | ENST00000537194 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| Frame-shift | ENST00000334660 | ENST00000327367 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 5CDS-intron | ENST00000334660 | ENST00000559092 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 5CDS-intron | ENST00000334660 | ENST00000540846 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 5CDS-intron | ENST00000334660 | ENST00000439724 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 5CDS-intron | ENST00000334660 | ENST00000537194 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| Frame-shift | ENST00000560397 | ENST00000327367 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 5CDS-intron | ENST00000560397 | ENST00000559092 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 5CDS-intron | ENST00000560397 | ENST00000540846 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 5CDS-intron | ENST00000560397 | ENST00000439724 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
| 5CDS-intron | ENST00000560397 | ENST00000537194 | CHP1 | chr15 | 41555081 | + | SMAD3 | chr15 | 67482751 | + |
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FusionProtFeatures for CHP1_SMAD3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CHP1 | SMAD3 |
| Calcium-binding protein involved in different processessuch as regulation of vesicular trafficking, plasma membraneNa(+)/H(+) exchanger and gene transcription. Involved in theconstitutive exocytic membrane traffic. Mediates the associationbetween microtubules and membrane-bound organelles of theendoplasmic reticulum and Golgi apparatus and is also required forthe targeting and fusion of transcytotic vesicles (TCV) with theplasma membrane. Functions as an integral cofactor in cell pHregulation by controlling plasma membrane-type Na(+)/H(+) exchangeactivity. Affects the pH sensitivity of SLC9A1/NHE1 by increasingits sensitivity at acidic pH. Required for the stabilization andlocalization of SLC9A1/NHE1 at the plasma membrane. Inhibitsserum- and GTPase-stimulated Na(+)/H(+) exchange. Plays a role asan inhibitor of ribosomal RNA transcription by repressing thenucleolar UBF1 transcriptional activity. May sequester UBF1 in thenucleoplasm and limit its translocation to the nucleolus.Associates to the ribosomal gene promoter. Acts as a negativeregulator of the calcineurin/NFAT signaling pathway. Inhibits NFATnuclear translocation and transcriptional activity by suppressingthe calcium-dependent calcineurin phosphatase activity. Alsonegatively regulates the kinase activity of the apoptosis-inducedkinase STK17B. Inhibits both STK17B auto- and substrate-phosphorylations in a calcium-dependent manner.{ECO:0000269|PubMed:10593895, ECO:0000269|PubMed:11350981,ECO:0000269|PubMed:15035633, ECO:0000269|PubMed:8901634}. |
| 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 |
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FusionGeneSequence for CHP1_SMAD3 |
| 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 CHP1_SMAD3 |
| 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 |
| CHP1 | SLC9A1, SLC9A2, SLC9A3, SLC9A4, SLC9A5, PRSS23, ELAVL1, SHMT2, MOV10, NXF1, TMEM216, XPO1, DUSP22, DUSP6, UBC | 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 |
| - 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 |
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RelatedDrugs for CHP1_SMAD3 |
| 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 |
| Hgene | CHP1 | Q99653 | DB11093 | Calcium Citrate | Calcineurin B homologous protein 1 | small molecule | approved |
| Hgene | CHP1 | Q99653 | DB11348 | Calcium Phosphate | Calcineurin B homologous protein 1 | small molecule | approved |
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RelatedDiseases for CHP1_SMAD3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SMAD3 | C0029408 | Degenerative polyarthritis | 2 | CTD_human |
| Tgene | SMAD3 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Tgene | SMAD3 | C3151087 | LOEYS-DIETZ SYNDROME 3 | 2 | ORPHANET;UNIPROT |
| Tgene | SMAD3 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
| Tgene | SMAD3 | C0003486 | Aortic Aneurysm | 1 | CTD_human;HPO |
| Tgene | SMAD3 | C0010346 | Crohn Disease | 1 | CTD_human |
| Tgene | SMAD3 | C0023267 | Fibroid Tumor | 1 | CTD_human |
| Tgene | SMAD3 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | SMAD3 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
| Tgene | SMAD3 | C0042138 | Uterine Neoplasms | 1 | CTD_human |
| Tgene | SMAD3 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
| Tgene | SMAD3 | C2697932 | Loeys-Dietz Syndrome | 1 | CTD_human |
| Tgene | SMAD3 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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