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Fusion gene ID: 2233 |
FusionGeneSummary for APOLD1_CDKN1B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APOLD1_CDKN1B | Fusion gene ID: 2233 | Hgene | Tgene | Gene symbol | APOLD1 | CDKN1B | Gene ID | 81575 | 1027 |
| Gene name | apolipoprotein L domain containing 1 | cyclin dependent kinase inhibitor 1B | |
| Synonyms | VERGE | CDKN4|KIP1|MEN1B|MEN4|P27KIP1 | |
| Cytomap | 12p13.1 | 12p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | apolipoprotein L domain-containing protein 1vascular early response gene protein | cyclin-dependent kinase inhibitor 1Bcyclin-dependent kinase inhibitor 1B (p27, Kip1) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96LR9 | P46527 | |
| Ensembl transtripts involved in fusion gene | ENST00000326765, ENST00000356591, | ENST00000477087, ENST00000228872, ENST00000396340, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 4 X 2=32 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: APOLD1 [Title/Abstract] AND CDKN1B [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 | CDKN1B | GO:0000082 | G1/S transition of mitotic cell cycle | 10208428 |
| Tgene | CDKN1B | GO:0008285 | negative regulation of cell proliferation | 19266349 |
| Tgene | CDKN1B | GO:0010942 | positive regulation of cell death | 19266349 |
| Tgene | CDKN1B | GO:0030308 | negative regulation of cell growth | 10208428 |
| Tgene | CDKN1B | GO:0033673 | negative regulation of kinase activity | 19170105 |
| Tgene | CDKN1B | GO:0042326 | negative regulation of phosphorylation | 10208428 |
| Tgene | CDKN1B | GO:0045732 | positive regulation of protein catabolic process | 19056892 |
| Tgene | CDKN1B | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 28666995 |
| Tgene | CDKN1B | GO:0045892 | negative regulation of transcription, DNA-templated | 19170105 |
| Tgene | CDKN1B | GO:0045930 | negative regulation of mitotic cell cycle | 19266349 |
| Tgene | CDKN1B | GO:0048102 | autophagic cell death | 12698196 |
| Tgene | CDKN1B | GO:0071285 | cellular response to lithium ion | 19056892 |
| Tgene | CDKN1B | GO:0071850 | mitotic cell cycle arrest | 19266349 |
| 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 | BRCA | TCGA-AQ-A04J-01A | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
| * 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-3UTR | ENST00000326765 | ENST00000477087 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
| 5CDS-3UTR | ENST00000326765 | ENST00000228872 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
| 5CDS-intron | ENST00000326765 | ENST00000396340 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
| intron-3UTR | ENST00000356591 | ENST00000477087 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
| intron-3UTR | ENST00000356591 | ENST00000228872 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
| intron-intron | ENST00000356591 | ENST00000396340 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
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FusionProtFeatures for APOLD1_CDKN1B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APOLD1 | CDKN1B |
| May be involved in angiogenesis. May play a role inactivity-dependent changes of brain vasculature. May affect blood-brain permeability. {ECO:0000269|PubMed:15102925}. | Important regulator of cell cycle progression. Inhibitsthe kinase activity of CDK2 bound to cyclin A, but has littleinhibitory activity on CDK2 bound to SPDYA (PubMed:28666995).Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexesand is involved in the assembly, stability, and modulation ofCCND1-CDK4 complex activation. Acts either as an inhibitor or anactivator of cyclin type D-CDK4 complexes depending on itsphosphorylation state and/or stoichometry.{ECO:0000269|PubMed:10831586, ECO:0000269|PubMed:12244301,ECO:0000269|PubMed:16782892, ECO:0000269|PubMed:17254966,ECO:0000269|PubMed:19075005, ECO:0000269|PubMed:28666995}. |
| 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 APOLD1_CDKN1B |
| 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 APOLD1_CDKN1B |
| 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 |
| APOLD1 | FN1, CDC25A, CDC25C, MTMR7, TRIM25 | CDKN1B | NUP50, CCND2, TRAF2, CCND3, CDK2, SPDYA, CCNA2, SKP2, CKS1B, CCNE1, ARHGDIA, COPS5, UCHL1, CDK6, CDK4, CCND1, XPO1, AKT1, YWHAQ, GRB2, UBE2D2, UBE2B, CDC34, CUL4A, CCNA1, TRIM21, RNF123, UBAC1, DDB1, UBE3A, RCHY1, PIN1, KPNA4, KPNA1, YWHAE, YWHAB, YWHAZ, KAT2B, CDKN1A, HIST1H1B, ELAVL1, CDK1, CCNE2, JAK2, TSC1, TSC2, SKP1, CUL1, HIST1H1A, MAPK8, MAPK10, SRC, VCP, KPNA6, CDK5, RPS6KA1, RHOA, STMN1, LYN, ABL1, CAMK1, IRF1, CDK3, PSMB1, SGK1, TXNIP, UBC, DCLRE1C, RBX1, COPS6, CCNB1, RFWD2, UBE2I, MYC, HSPA8, VHL, IGF1R, CASP8, SIRT6, PRB2, CKS2, CDK7, HSP90AA1, WEE1, GNL3 |
| - 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 APOLD1_CDKN1B |
| 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 APOLD1_CDKN1B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CDKN1B | C0024121 | Lung Neoplasms | 3 | CTD_human |
| Tgene | CDKN1B | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Tgene | CDKN1B | C0021841 | Intestinal Neoplasms | 1 | CTD_human |
| Tgene | CDKN1B | C0022665 | Kidney Neoplasm | 1 | CTD_human |
| Tgene | CDKN1B | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | CDKN1B | C0025500 | Mesothelioma | 1 | CTD_human |
| Tgene | CDKN1B | C0032019 | Pituitary Neoplasms | 1 | CTD_human |
| Tgene | CDKN1B | C0034885 | Rectal Neoplasms | 1 | CTD_human |
| Tgene | CDKN1B | C0036920 | Sezary Syndrome | 1 | CTD_human |
| Tgene | CDKN1B | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | CDKN1B | C0042138 | Uterine Neoplasms | 1 | CTD_human |
| Tgene | CDKN1B | C0079487 | Helicobacter Infections | 1 | CTD_human |
| Tgene | CDKN1B | C0206669 | Hepatocellular Adenoma | 1 | CTD_human |
| Tgene | CDKN1B | C0206754 | Neuroendocrine Tumors | 1 | CTD_human |
| Tgene | CDKN1B | C0263454 | Chloracne | 1 | CTD_human |
| Tgene | CDKN1B | C0282612 | Prostatic Intraepithelial Neoplasias | 1 | CTD_human |
| Tgene | CDKN1B | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | CDKN1B | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | CDKN1B | C2239176 | Liver carcinoma | 1 | CTD_human |
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