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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:APC-MCC (FusionGDB2 ID:HG324TG4163) |
Fusion Gene Summary for APC-MCC |
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Fusion gene information | Fusion gene name: APC-MCC | Fusion gene ID: hg324tg4163 | Hgene | Tgene | Gene symbol | APC | MCC | Gene ID | 324 | 4163 |
Gene name | APC regulator of WNT signaling pathway | MCC regulator of WNT signaling pathway | |
Synonyms | BTPS2|DESMD|DP2|DP2.5|DP3|GS|PPP1R46 | MCC1 | |
Cytomap | ('APC')('MCC') 5q22.2 | 5q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | adenomatous polyposis coli proteinAPC, WNT signaling pathway regulatorWNT signaling pathway regulatoradenomatosis polyposis coli tumor suppressoradenomatous polyposis coli (APC)deleted in polyposis 2.5epididymis secretory sperm binding proteinprote | colorectal mutant cancer proteinMCC, WNT signaling pathway regulatormutated in colorectal cancers | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | . | P23508 | |
Ensembl transtripts involved in fusion gene | ENST00000505350, ENST00000457016, ENST00000257430, ENST00000508376, | ||
Fusion gene scores | * DoF score | 14 X 10 X 8=1120 | 11 X 12 X 5=660 |
# samples | 14 | 12 | |
** MAII score | log2(14/1120*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/660*10)=-2.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: APC [Title/Abstract] AND MCC [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | APC(112043579)-MCC(112487119), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
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 | MCC | GO:0045184 | establishment of protein localization | 18591935 |
Tgene | MCC | GO:0050680 | negative regulation of epithelial cell proliferation | 18591935 |
Tgene | MCC | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 18591935 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | PRAD | TCGA-XK-AAJA-01A | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
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Fusion Gene ORF analysis for APC-MCC |
![]() * 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 | ENST00000505350 | ENST00000302475 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
3UTR-5UTR | ENST00000505350 | ENST00000408903 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
3UTR-5UTR | ENST00000505350 | ENST00000514701 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
3UTR-5UTR | ENST00000505350 | ENST00000515367 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
5UTR-3CDS | ENST00000457016 | ENST00000302475 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
5UTR-5UTR | ENST00000457016 | ENST00000408903 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
5UTR-5UTR | ENST00000457016 | ENST00000514701 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
5UTR-5UTR | ENST00000457016 | ENST00000515367 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
intron-3CDS | ENST00000257430 | ENST00000302475 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
intron-3CDS | ENST00000508376 | ENST00000302475 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
intron-5UTR | ENST00000257430 | ENST00000408903 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
intron-5UTR | ENST00000257430 | ENST00000514701 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
intron-5UTR | ENST00000257430 | ENST00000515367 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
intron-5UTR | ENST00000508376 | ENST00000408903 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
intron-5UTR | ENST00000508376 | ENST00000514701 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
intron-5UTR | ENST00000508376 | ENST00000515367 | APC | chr5 | 112043579 | + | MCC | chr5 | 112487119 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for APC-MCC |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for APC-MCC |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:112043579/:112487119) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | MCC |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation (PubMed:18591935, PubMed:19555689, PubMed:22480440). Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2-dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and negative regulation of beta-catenin (CTNB1) transcriptional activity (PubMed:24824780). {ECO:0000269|PubMed:18591935, ECO:0000269|PubMed:19555689, ECO:0000269|PubMed:22480440, ECO:0000269|PubMed:24824780}. |
![]() * 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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Fusion Gene Sequence for APC-MCC |
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Fusion Gene PPI Analysis for APC-MCC |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for APC-MCC |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for APC-MCC |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | APC | C0032580 | Adenomatous Polyposis Coli | 24 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | APC | C2713442 | Polyposis, Adenomatous Intestinal | 11 | CTD_human |
Hgene | APC | C2713443 | Familial Intestinal Polyposis | 11 | CTD_human |
Hgene | APC | C0007102 | Malignant tumor of colon | 7 | CTD_human |
Hgene | APC | C0009375 | Colonic Neoplasms | 7 | CTD_human |
Hgene | APC | C0009402 | Colorectal Carcinoma | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | APC | C0009404 | Colorectal Neoplasms | 7 | CTD_human;UNIPROT |
Hgene | APC | C0021841 | Intestinal Neoplasms | 6 | CTD_human |
Hgene | APC | C0346627 | Intestinal Cancer | 6 | CTD_human |
Hgene | APC | C0001430 | Adenoma | 5 | CTD_human |
Hgene | APC | C0205646 | Adenoma, Basal Cell | 5 | CTD_human |
Hgene | APC | C0205647 | Follicular adenoma | 5 | CTD_human |
Hgene | APC | C0205648 | Adenoma, Microcystic | 5 | CTD_human |
Hgene | APC | C0205649 | Adenoma, Monomorphic | 5 | CTD_human |
Hgene | APC | C0205650 | Papillary adenoma | 5 | CTD_human |
Hgene | APC | C0205651 | Adenoma, Trabecular | 5 | 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 | C0007113 | Rectal Carcinoma | 2 | CTD_human |
Hgene | APC | C0007621 | Neoplastic Cell Transformation | 2 | CTD_human |
Hgene | APC | C0025149 | Medulloblastoma | 2 | CTD_human;UNIPROT |
Hgene | APC | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Hgene | APC | C0034885 | Rectal Neoplasms | 2 | CTD_human |
Hgene | APC | C0205641 | Adenocarcinoma, Basal Cell | 2 | CTD_human |
Hgene | APC | C0205642 | Adenocarcinoma, Oxyphilic | 2 | CTD_human |
Hgene | APC | C0205643 | Carcinoma, Cribriform | 2 | CTD_human |
Hgene | APC | C0205644 | Carcinoma, Granular Cell | 2 | CTD_human |
Hgene | APC | C0205645 | Adenocarcinoma, Tubular | 2 | CTD_human |
Hgene | APC | C0376358 | Malignant neoplasm of prostate | 2 | CTD_human |
Hgene | APC | C0002886 | Anemia, Macrocytic | 1 | 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 | C0017181 | Gastrointestinal Hemorrhage | 1 | CTD_human |
Hgene | APC | C0017185 | Gastrointestinal Neoplasms | 1 | CTD_human |
Hgene | APC | C0017636 | Glioblastoma | 1 | CTD_human |
Hgene | APC | C0018932 | Hematochezia | 1 | CTD_human |
Hgene | APC | C0020473 | Hyperlipidemia | 1 | CTD_human |
Hgene | APC | C0020796 | Profound Mental Retardation | 1 | CTD_human |
Hgene | APC | C0021390 | Inflammatory Bowel Diseases | 1 | CTD_human |
Hgene | APC | C0023518 | Leukocytosis | 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 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
Hgene | APC | C0025500 | Mesothelioma | 1 | CTD_human |
Hgene | APC | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
Hgene | APC | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | APC | C0038002 | Splenomegaly | 1 | CTD_human |
Hgene | APC | C0079218 | Fibromatosis, Aggressive | 1 | CGI;CTD_human;ORPHANET |
Hgene | APC | C0151857 | Pleocytosis | 1 | CTD_human |
Hgene | APC | C0205833 | Medullomyoblastoma | 1 | CTD_human |
Hgene | APC | C0206646 | Fibromatosis, Abdominal | 1 | CTD_human |
Hgene | APC | C0206677 | Adenomatous Polyps | 1 | CTD_human |
Hgene | APC | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | APC | C0265325 | Turcot syndrome (disorder) | 1 | CTD_human |
Hgene | APC | C0278510 | Childhood Medulloblastoma | 1 | CTD_human |
Hgene | APC | C0278876 | Adult Medulloblastoma | 1 | CTD_human |
Hgene | APC | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human |
Hgene | APC | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
Hgene | APC | C0685938 | Malignant neoplasm of gastrointestinal tract | 1 | CTD_human |
Hgene | APC | C0751291 | Desmoplastic Medulloblastoma | 1 | CTD_human |
Hgene | APC | C0917816 | Mental deficiency | 1 | CTD_human |
Hgene | APC | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | APC | C1275668 | Melanotic medulloblastoma | 1 | CTD_human |
Hgene | APC | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 1 | CTD_human |
Hgene | APC | C1621958 | Glioblastoma Multiforme | 1 | CTD_human |
Hgene | APC | C1706412 | Lipidemias | 1 | CTD_human |
Hgene | APC | C1859309 | Syndactyly Cenani Lenz type | 1 | ORPHANET |
Hgene | APC | C1879526 | Aberrant Crypt Foci | 1 | CTD_human |
Hgene | APC | C3714756 | Intellectual Disability | 1 | CTD_human |
Hgene | APC | C4552100 | Lynch Syndrome | 1 | CTD_human |
Tgene | C0004352 | Autistic Disorder | 1 | CTD_human | |
Tgene | C0007113 | Rectal Carcinoma | 1 | CTD_human | |
Tgene | C0020796 | Profound Mental Retardation | 1 | CTD_human | |
Tgene | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human | |
Tgene | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human | |
Tgene | C0034885 | Rectal Neoplasms | 1 | CTD_human | |
Tgene | C0917816 | Mental deficiency | 1 | CTD_human | |
Tgene | C2713442 | Polyposis, Adenomatous Intestinal | 1 | CTD_human | |
Tgene | C2713443 | Familial Intestinal Polyposis | 1 | CTD_human | |
Tgene | C3714756 | Intellectual Disability | 1 | CTD_human |