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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:APOLD1-CDKN1B (FusionGDB2 ID:HG81575TG1027) |
Fusion Gene Summary for APOLD1-CDKN1B |
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Fusion gene information | Fusion gene name: APOLD1-CDKN1B | Fusion gene ID: hg81575tg1027 | 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 | ('APOLD1')('CDKN1B') 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 | 20200313 | 20200322 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000326765, ENST00000356591, | ||
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 5 X 5 X 2=50 |
# samples | 5 | 5 | |
** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/50*10)=0 | |
Context | PubMed: APOLD1 [Title/Abstract] AND CDKN1B [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | APOLD1(12879030)-CDKN1B(12873970), # samples:3 | ||
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 |
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 |
![]() * 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 | BRCA | TCGA-AQ-A04J-01A | APOLD1 | chr12 | 12879030 | - | CDKN1B | chr12 | 12873970 | + |
ChimerDB4 | BRCA | TCGA-AQ-A04J-01A | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
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Fusion Gene ORF analysis for APOLD1-CDKN1B |
![]() * 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 | ENST00000228872 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
5CDS-3UTR | ENST00000326765 | ENST00000477087 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
5CDS-intron | ENST00000326765 | ENST00000396340 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
intron-3UTR | ENST00000356591 | ENST00000228872 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
intron-3UTR | ENST00000356591 | ENST00000477087 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
intron-intron | ENST00000356591 | ENST00000396340 | APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873970 | + |
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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 APOLD1-CDKN1B |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873969 | + | 0.9536302 | 0.046369813 |
APOLD1 | chr12 | 12879030 | + | CDKN1B | chr12 | 12873969 | + | 0.9536302 | 0.046369813 |
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Fusion Protein Features for APOLD1-CDKN1B |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:12879030/:12873970) - 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 |
. | . |
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: 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}. |
![]() * 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 APOLD1-CDKN1B |
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Fusion Gene PPI Analysis for APOLD1-CDKN1B |
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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 APOLD1-CDKN1B |
![]() (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 APOLD1-CDKN1B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C1970712 | Multiple Endocrine Neoplasia, Type IV | 11 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C4274947 | Multiple endocrine neoplasia type 4 | 9 | CLINGEN | |
Tgene | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 8 | CLINGEN | |
Tgene | C1112155 | Hereditary non-polyposis colorectal cancer syndrome | 8 | CLINGEN | |
Tgene | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 8 | CLINGEN | |
Tgene | C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 | 8 | CLINGEN | |
Tgene | C2936783 | Colorectal cancer, hereditary nonpolyposis, type 1 | 8 | CLINGEN | |
Tgene | C0024121 | Lung Neoplasms | 3 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 3 | CTD_human | |
Tgene | C0242379 | Malignant neoplasm of lung | 3 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 3 | CTD_human | |
Tgene | C0025267 | Multiple Endocrine Neoplasia Type 1 | 2 | ORPHANET | |
Tgene | C0032000 | Pituitary Adenoma | 2 | CGI;CTD_human;GENOMICS_ENGLAND | |
Tgene | C0006142 | Malignant neoplasm of breast | 1 | CGI;CTD_human | |
Tgene | C0007113 | Rectal Carcinoma | 1 | CTD_human | |
Tgene | C0021841 | Intestinal Neoplasms | 1 | CTD_human | |
Tgene | C0022665 | Kidney Neoplasm | 1 | CTD_human | |
Tgene | C0023903 | Liver neoplasms | 1 | CTD_human | |
Tgene | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human | |
Tgene | C0025500 | Mesothelioma | 1 | CTD_human | |
Tgene | C0032019 | Pituitary Neoplasms | 1 | CTD_human | |
Tgene | C0034885 | Rectal Neoplasms | 1 | CTD_human | |
Tgene | C0036920 | Sezary Syndrome | 1 | CTD_human | |
Tgene | C0038356 | Stomach Neoplasms | 1 | CTD_human | |
Tgene | C0042138 | Uterine Neoplasms | 1 | CTD_human | |
Tgene | C0079487 | Helicobacter Infections | 1 | CTD_human | |
Tgene | C0153567 | Uterine Cancer | 1 | CTD_human | |
Tgene | C0206669 | Hepatocellular Adenoma | 1 | CTD_human | |
Tgene | C0206754 | Neuroendocrine Tumors | 1 | CTD_human | |
Tgene | C0263454 | Chloracne | 1 | CTD_human | |
Tgene | C0282612 | Prostatic Intraepithelial Neoplasias | 1 | CTD_human | |
Tgene | C0345904 | Malignant neoplasm of liver | 1 | CTD_human | |
Tgene | C0346300 | Pituitary carcinoma | 1 | CTD_human | |
Tgene | C0346627 | Intestinal Cancer | 1 | CTD_human | |
Tgene | C0549473 | Thyroid carcinoma | 1 | GENOMICS_ENGLAND | |
Tgene | C0678222 | Breast Carcinoma | 1 | CGI;CTD_human | |
Tgene | C0740457 | Malignant neoplasm of kidney | 1 | CTD_human | |
Tgene | C0919267 | ovarian neoplasm | 1 | CTD_human | |
Tgene | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
Tgene | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 1 | CTD_human | |
Tgene | C2931456 | Prostate cancer, familial | 1 | CTD_human | |
Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human | |
Tgene | C4722327 | PROSTATE CANCER, HEREDITARY, 1 | 1 | CTD_human |