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Fusion gene ID: 12580 |
FusionGeneSummary for FAM13C_S100P |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM13C_S100P | Fusion gene ID: 12580 | Hgene | Tgene | Gene symbol | FAM13C | S100P | Gene ID | 220965 | 6286 |
| Gene name | family with sequence similarity 13 member C | S100 calcium binding protein P | |
| Synonyms | FAM13C1 | MIG9 | |
| Cytomap | 10q21.1 | 4p16.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM13Cfamily with sequence similarity 13, member C1 | protein S100-Pmigration-inducing gene 9 proteinprotein S100-E | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q8NE31 | P25815 | |
| Ensembl transtripts involved in fusion gene | ENST00000373867, ENST00000373868, ENST00000442566, ENST00000277705, ENST00000419214, ENST00000468840, ENST00000435852, ENST00000422313, ENST00000510215, | ENST00000296370, ENST00000513778, | |
| Fusion gene scores | * DoF score | 3 X 2 X 4=24 | 1 X 1 X 2=2 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/2*10)=3.32192809488736 | |
| Context | PubMed: FAM13C [Title/Abstract] AND S100P [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 |
| 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 | CESC | TCGA-DS-A1OB-01A | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| TCGA | RV | PRAD | TCGA-EJ-8474-01A | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| * 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 |
| Frame-shift | ENST00000373867 | ENST00000296370 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| 5CDS-3UTR | ENST00000373867 | ENST00000513778 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| Frame-shift | ENST00000373868 | ENST00000296370 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| 5CDS-3UTR | ENST00000373868 | ENST00000513778 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| Frame-shift | ENST00000442566 | ENST00000296370 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| 5CDS-3UTR | ENST00000442566 | ENST00000513778 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| Frame-shift | ENST00000277705 | ENST00000296370 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| 5CDS-3UTR | ENST00000277705 | ENST00000513778 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| Frame-shift | ENST00000419214 | ENST00000296370 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| 5CDS-3UTR | ENST00000419214 | ENST00000513778 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| In-frame | ENST00000468840 | ENST00000296370 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| 5CDS-3UTR | ENST00000468840 | ENST00000513778 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| Frame-shift | ENST00000435852 | ENST00000296370 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| 5CDS-3UTR | ENST00000435852 | ENST00000513778 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| Frame-shift | ENST00000422313 | ENST00000296370 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| 5CDS-3UTR | ENST00000422313 | ENST00000513778 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| intron-3CDS | ENST00000510215 | ENST00000296370 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
| intron-3UTR | ENST00000510215 | ENST00000513778 | FAM13C | chr10 | 61112030 | - | S100P | chr4 | 6698620 | + |
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FusionProtFeatures for FAM13C_S100P |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM13C | S100P |
| May function as calcium sensor and contribute tocellular calcium signaling. In a calcium-dependent manner,functions by interacting with other proteins, such as EZR andPPP5C, and indirectly plays a role in physiological processes likethe formation of microvilli in epithelial cells. May stimulatecell proliferation in an autocrine manner via activation of thereceptor for activated glycation end products (RAGE).{ECO:0000269|PubMed:14617629, ECO:0000269|PubMed:19111582,ECO:0000269|PubMed:22399290}. |
| 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 FAM13C_S100P |
| 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. |
| >In-frame_FAM13C_ENST00000468840_chr10_61112030_-_S100P_ENST00000296370_chr4_6698620_+_75aa >In-frame_FAM13C_ENST00000468840_chr10_61112030_-_S100P_ENST00000296370_chr4_6698620_+_75aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_FAM13C_ENST00000468840_chr10_61112030_-_S100P_ENST00000296370_chr4_6698620_+_225nt ATGGGCAACTTCAAGTCCAGGAAGCCCAAGTCCATCTTCAAAGCGGAGAGCGGGAGGAGCCACGGAGAAAGTCAGAGTGGAAAAGACAAG GATGCCGTGGATAAATTGCTCAAGGACCTGGATGCCAATGGAGATGCCCAGGTGGACTTCAGTGAGTTCATAGTGTTCGTGGCTGCAATC >In-frame_FAM13C_ENST00000468840_chr10_61112030_-_S100P_ENST00000296370_chr4_6698620_+_225nt ATGGGCAACTTCAAGTCCAGGAAGCCCAAGTCCATCTTCAAAGCGGAGAGCGGGAGGAGCCACGGAGAAAGTCAGAGTGGAAAAGACAAG GATGCCGTGGATAAATTGCTCAAGGACCTGGATGCCAATGGAGATGCCCAGGTGGACTTCAGTGAGTTCATAGTGTTCGTGGCTGCAATC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_FAM13C_ENST00000468840_chr10_61112030_-_S100P_ENST00000296370_chr4_6698620_+_906nt AAAATTGGTAGGAGACATGTGGAAGAAAGCAAGTCTCCCGGGTATTTCAGCACTTCGGCAGAAACACTGGGGCATTCTCATTGCCAGCCT CGGGGGGTGGCTGGCACAAAGAGCCCAAGATTAAACGCGGCGCCTGGGCTGGCGAGGTCGGGGTCGTGTGGTAACTCTCCAGGTGCTCCT CGCTGGATCCCGGGGTCCCAGCCCCGCCGCCGCGCCCCGCCCAGCTCTGTCCCCGCAGCCTCGCGGGCTGCCGGGCTTTGTGGTTCGCCC GTGCCGCTGGGCCCCTGCTGGGGGTGTCGTTACGAGCATGTGCAGACAGCAGCCCAAGCCTTCAGGATAATTCCTTCAGCAGCACCACTG TAACAGAGTGTGACGAAGATCCAGTCTCTCTACATGAAGACCAGACTGATTGCTCCAGTCTCAGAGATGAAAACAATAAAGAGAACTACC CCGACGCAGGGGCTCTGGTAGAAGAGCACGCGCCGCCCTCTTGGGAGCCGCAGCAGCAGAATGTAGAGGCGACCGTGCTGGTGGACAGCG TATTGCGACCCAGCATGGGCAACTTCAAGTCCAGGAAGCCCAAGTCCATCTTCAAAGCGGAGAGCGGGAGGAGCCACGGAGAAAGTCAGA GTGGAAAAGACAAGGATGCCGTGGATAAATTGCTCAAGGACCTGGATGCCAATGGAGATGCCCAGGTGGACTTCAGTGAGTTCATAGTGT TCGTGGCTGCAATCACGTCTGCCTGTCACAAGTACTTTGAGAAGGCAGGACTCAAATGATGCCCTGGAGATGTCACAGATTCCTGGCAGA GCCATGGTCCCAGGCTTCCCAAAAGTGTTTGTTGGCAATTATTCCCCTAGGCTGAGCCTGCTCATGTACCTCTGATTAATAAATGCTTAT >In-frame_FAM13C_ENST00000468840_chr10_61112030_-_S100P_ENST00000296370_chr4_6698620_+_906nt AAAATTGGTAGGAGACATGTGGAAGAAAGCAAGTCTCCCGGGTATTTCAGCACTTCGGCAGAAACACTGGGGCATTCTCATTGCCAGCCT CGGGGGGTGGCTGGCACAAAGAGCCCAAGATTAAACGCGGCGCCTGGGCTGGCGAGGTCGGGGTCGTGTGGTAACTCTCCAGGTGCTCCT CGCTGGATCCCGGGGTCCCAGCCCCGCCGCCGCGCCCCGCCCAGCTCTGTCCCCGCAGCCTCGCGGGCTGCCGGGCTTTGTGGTTCGCCC GTGCCGCTGGGCCCCTGCTGGGGGTGTCGTTACGAGCATGTGCAGACAGCAGCCCAAGCCTTCAGGATAATTCCTTCAGCAGCACCACTG TAACAGAGTGTGACGAAGATCCAGTCTCTCTACATGAAGACCAGACTGATTGCTCCAGTCTCAGAGATGAAAACAATAAAGAGAACTACC CCGACGCAGGGGCTCTGGTAGAAGAGCACGCGCCGCCCTCTTGGGAGCCGCAGCAGCAGAATGTAGAGGCGACCGTGCTGGTGGACAGCG TATTGCGACCCAGCATGGGCAACTTCAAGTCCAGGAAGCCCAAGTCCATCTTCAAAGCGGAGAGCGGGAGGAGCCACGGAGAAAGTCAGA GTGGAAAAGACAAGGATGCCGTGGATAAATTGCTCAAGGACCTGGATGCCAATGGAGATGCCCAGGTGGACTTCAGTGAGTTCATAGTGT TCGTGGCTGCAATCACGTCTGCCTGTCACAAGTACTTTGAGAAGGCAGGACTCAAATGATGCCCTGGAGATGTCACAGATTCCTGGCAGA GCCATGGTCCCAGGCTTCCCAAAAGTGTTTGTTGGCAATTATTCCCCTAGGCTGAGCCTGCTCATGTACCTCTGATTAATAAATGCTTAT |
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FusionGenePPI for FAM13C_S100P |
| 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 |
| FAM13C | CCDC85B, DVL3, PHC2, KIF2A, MEOX2, MTUS2, TFIP11, SDCBP2, MED4, HMBOX1, CEP70, FAM13C, CCDC172, TUBA3C, AHCYL2, AHCYL1, PDZRN3 | S100P | S100P, S100A1, AGER, EZR, S100Z, TERF2IP, SUGT1, LRRC45, PPM1G, SNRPF, IGBP1, PSMD4, STUB1, BAG3, S100B, TFIP11, NUSAP1, CDH1, CCDC103, TBC1D22B, ZIC1 |
| - 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 FAM13C_S100P |
| 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 |
| Tgene | S100P | P25815 | DB01003 | Cromoglicic acid | Protein S100-P | small molecule | approved |
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RelatedDiseases for FAM13C_S100P |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | S100P | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
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