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Fusion gene ID: 2139 |
FusionGeneSummary for APC_APC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APC_APC | Fusion gene ID: 2139 | Hgene | Tgene | Gene symbol | APC | APC | Gene ID | 324 | 324 |
| Gene name | APC, WNT signaling pathway regulator | APC, WNT signaling pathway regulator | |
| Synonyms | BTPS2|DP2|DP2.5|DP3|GS|PPP1R46 | BTPS2|DP2|DP2.5|DP3|GS|PPP1R46 | |
| Cytomap | 5q22.2 | 5q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | adenomatous polyposis coli proteinWNT signaling pathway regulatoradenomatosis polyposis coli tumor suppressoradenomatous polyposis coli (APC)deleted in polyposis 2.5protein phosphatase 1, regulatory subunit 46truncated adenomatosis polyposis coli | adenomatous polyposis coli proteinWNT signaling pathway regulatoradenomatosis polyposis coli tumor suppressoradenomatous polyposis coli (APC)deleted in polyposis 2.5protein phosphatase 1, regulatory subunit 46truncated adenomatosis polyposis coli | |
| Modification date | 20180527 | 20180527 | |
| UniProtAcc | P25054 | P25054 | |
| Ensembl transtripts involved in fusion gene | ENST00000505350, ENST00000457016, ENST00000257430, ENST00000508376, | ENST00000505350, ENST00000457016, ENST00000257430, ENST00000508376, | |
| Fusion gene scores | * DoF score | 11 X 7 X 7=539 | 4 X 4 X 1=16 |
| # samples | 11 | 5 | |
| ** MAII score | log2(11/539*10)=-2.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/16*10)=1.64385618977472 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: APC [Title/Abstract] AND APC [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 | APC | GO:0006974 | cellular response to DNA damage stimulus | 14728717 |
| Hgene | APC | GO:0007026 | negative regulation of microtubule depolymerization | 11166179 |
| Hgene | APC | GO:0007050 | cell cycle arrest | 8521819 |
| Hgene | APC | GO:0008285 | negative regulation of cell proliferation | 8521819 |
| Hgene | APC | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 8521819 |
| Hgene | APC | GO:0065003 | protein-containing complex assembly | 16188939 |
| Tgene | APC | GO:0006974 | cellular response to DNA damage stimulus | 14728717 |
| Tgene | APC | GO:0007026 | negative regulation of microtubule depolymerization | 11166179 |
| Tgene | APC | GO:0007050 | cell cycle arrest | 8521819 |
| Tgene | APC | GO:0008285 | negative regulation of cell proliferation | 8521819 |
| Tgene | APC | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 8521819 |
| Tgene | APC | GO:0065003 | protein-containing complex assembly | 16188939 |
| 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 |
| ChiTaRS3.1 | BF903928 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| * 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 |
| intron-intron | ENST00000505350 | ENST00000505350 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000505350 | ENST00000457016 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000505350 | ENST00000257430 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000505350 | ENST00000508376 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000457016 | ENST00000505350 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000457016 | ENST00000457016 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000457016 | ENST00000257430 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000457016 | ENST00000508376 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000257430 | ENST00000505350 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000257430 | ENST00000457016 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000257430 | ENST00000257430 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000257430 | ENST00000508376 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000508376 | ENST00000505350 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000508376 | ENST00000457016 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000508376 | ENST00000257430 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
| intron-intron | ENST00000508376 | ENST00000508376 | APC | chr5 | 112067951 | - | APC | chr5 | 112067580 | + |
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FusionProtFeatures for APC_APC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APC | APC |
| Tumor suppressor. Promotes rapid degradation of CTNNB1and participates in Wnt signaling as a negative regulator. APCactivity is correlated with its phosphorylation state. Activatesthe GEF activity of SPATA13 and ARHGEF4. Plays a role inhepatocyte growth factor (HGF)-induced cell migration. Requiredfor MMP9 up-regulation via the JNK signaling pathway in colorectaltumor cells. Acts as a mediator of ERBB2-dependent stabilizationof microtubules at the cell cortex. It is required for thelocalization of MACF1 to the cell membrane and this localizationof MACF1 is critical for its function in microtubulestabilization. {ECO:0000269|PubMed:10947987,ECO:0000269|PubMed:17599059, ECO:0000269|PubMed:19151759,ECO:0000269|PubMed:19893577, ECO:0000269|PubMed:20937854}. | Tumor suppressor. Promotes rapid degradation of CTNNB1and participates in Wnt signaling as a negative regulator. APCactivity is correlated with its phosphorylation state. Activatesthe GEF activity of SPATA13 and ARHGEF4. Plays a role inhepatocyte growth factor (HGF)-induced cell migration. Requiredfor MMP9 up-regulation via the JNK signaling pathway in colorectaltumor cells. Acts as a mediator of ERBB2-dependent stabilizationof microtubules at the cell cortex. It is required for thelocalization of MACF1 to the cell membrane and this localizationof MACF1 is critical for its function in microtubulestabilization. {ECO:0000269|PubMed:10947987,ECO:0000269|PubMed:17599059, ECO:0000269|PubMed:19151759,ECO:0000269|PubMed:19893577, ECO:0000269|PubMed:20937854}. |
| 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 APC_APC |
| 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 APC_APC |
| 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 |
| - 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 APC_APC |
| 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 |
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RelatedDiseases for APC_APC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | APC | C0032580 | Adenomatous Polyposis Coli | 14 | CTD_human;ORPHANET;UNIPROT |
| Hgene | APC | C0009375 | Colonic Neoplasms | 7 | CTD_human |
| Hgene | APC | C0009404 | Colorectal Neoplasms | 6 | CTD_human |
| Hgene | APC | C0021841 | Intestinal Neoplasms | 5 | CTD_human |
| Hgene | APC | C0001430 | Adenoma | 4 | CTD_human |
| Hgene | APC | C0021846 | Intestinal Polyps | 3 | CTD_human |
| Hgene | APC | C0001418 | Adenocarcinoma | 2 | CTD_human |
| Hgene | APC | C0004352 | Autistic Disorder | 2 | CTD_human |
| Hgene | APC | C0007621 | Neoplastic Cell Transformation | 2 | CTD_human |
| Hgene | APC | C0025149 | Medulloblastoma | 2 | CTD_human;UNIPROT |
| Hgene | APC | C0034885 | Rectal Neoplasms | 2 | CTD_human |
| Hgene | APC | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | APC | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 1 | CTD_human |
| Hgene | APC | C0015393 | Eye Abnormalities | 1 | CTD_human |
| Hgene | APC | C0017185 | Gastrointestinal Neoplasms | 1 | CTD_human |
| Hgene | APC | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | APC | C0020473 | Hyperlipidemia | 1 | CTD_human |
| Hgene | APC | C0021390 | Inflammatory Bowel Diseases | 1 | CTD_human |
| Hgene | APC | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | APC | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | APC | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | APC | C0025500 | Mesothelioma | 1 | CTD_human |
| Hgene | APC | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | APC | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Hgene | APC | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | APC | C0079218 | Fibromatosis, Aggressive | 1 | CTD_human;HPO;ORPHANET |
| Hgene | APC | C0206646 | Fibromatosis, Abdominal | 1 | CTD_human |
| Hgene | APC | C0206677 | Adenomatous Polyps | 1 | CTD_human |
| Hgene | APC | C0265325 | Turcot syndrome (disorder) | 1 | CTD_human |
| Hgene | APC | C0699791 | Stomach Carcinoma | 1 | HPO;UNIPROT |
| Hgene | APC | C1879526 | Aberrant Crypt Foci | 1 | CTD_human |
| Hgene | APC | C3714756 | Intellectual Disability | 1 | CTD_human |
| Tgene | APC | C0032580 | Adenomatous Polyposis Coli | 14 | CTD_human;ORPHANET;UNIPROT |
| Tgene | APC | C0009375 | Colonic Neoplasms | 7 | CTD_human |
| Tgene | APC | C0009404 | Colorectal Neoplasms | 6 | CTD_human |
| Tgene | APC | C0021841 | Intestinal Neoplasms | 5 | CTD_human |
| Tgene | APC | C0001430 | Adenoma | 4 | CTD_human |
| Tgene | APC | C0021846 | Intestinal Polyps | 3 | CTD_human |
| Tgene | APC | C0001418 | Adenocarcinoma | 2 | CTD_human |
| Tgene | APC | C0004352 | Autistic Disorder | 2 | CTD_human |
| Tgene | APC | C0007621 | Neoplastic Cell Transformation | 2 | CTD_human |
| Tgene | APC | C0025149 | Medulloblastoma | 2 | CTD_human;UNIPROT |
| Tgene | APC | C0034885 | Rectal Neoplasms | 2 | CTD_human |
| Tgene | APC | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | APC | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 1 | CTD_human |
| Tgene | APC | C0015393 | Eye Abnormalities | 1 | CTD_human |
| Tgene | APC | C0017185 | Gastrointestinal Neoplasms | 1 | CTD_human |
| Tgene | APC | C0017636 | Glioblastoma | 1 | CTD_human |
| Tgene | APC | C0020473 | Hyperlipidemia | 1 | CTD_human |
| Tgene | APC | C0021390 | Inflammatory Bowel Diseases | 1 | CTD_human |
| Tgene | APC | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | APC | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | APC | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | APC | C0025500 | Mesothelioma | 1 | CTD_human |
| Tgene | APC | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | APC | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Tgene | APC | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | APC | C0079218 | Fibromatosis, Aggressive | 1 | CTD_human;HPO;ORPHANET |
| Tgene | APC | C0206646 | Fibromatosis, Abdominal | 1 | CTD_human |
| Tgene | APC | C0206677 | Adenomatous Polyps | 1 | CTD_human |
| Tgene | APC | C0265325 | Turcot syndrome (disorder) | 1 | CTD_human |
| Tgene | APC | C0699791 | Stomach Carcinoma | 1 | HPO;UNIPROT |
| Tgene | APC | C1879526 | Aberrant Crypt Foci | 1 | CTD_human |
| Tgene | APC | C3714756 | Intellectual Disability | 1 | CTD_human |
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