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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:CCNYL2-TSC2 (FusionGDB2 ID:HG414194TG7249) |
Fusion Gene Summary for CCNYL2-TSC2 |
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Fusion gene information | Fusion gene name: CCNYL2-TSC2 | Fusion gene ID: hg414194tg7249 | Hgene | Tgene | Gene symbol | CCNYL2 | TSC2 | Gene ID | 414194 | 7249 |
Gene name | TSC complex subunit 2 | ||
Synonyms | LAM|PPP1R160|TSC4 | ||
Cytomap | ('CCNYL2')('TSC2') | 16p13.3 | |
Type of gene | protein-coding | ||
Description | tuberinprotein phosphatase 1, regulatory subunit 160tuberous sclerosis 2 protein | ||
Modification date | 20200313 | ||
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000483242, | ||
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 9 X 4=216 |
# samples | 1 | 8 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(8/216*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CCNYL2 [Title/Abstract] AND TSC2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CCNYL2(42916211)-TSC2(2108748), # 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 |
![]() * 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 | TGCT | TCGA-2G-AAG5-01A | CCNYL2 | chr10 | 42916211 | - | TSC2 | chr16 | 2108748 | + |
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Fusion Gene ORF analysis for CCNYL2-TSC2 |
![]() * 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 |
5UTR-3CDS | ENST00000483242 | ENST00000219476 | CCNYL2 | chr10 | 42916211 | - | TSC2 | chr16 | 2108748 | + |
5UTR-3CDS | ENST00000483242 | ENST00000350773 | CCNYL2 | chr10 | 42916211 | - | TSC2 | chr16 | 2108748 | + |
5UTR-3CDS | ENST00000483242 | ENST00000353929 | CCNYL2 | chr10 | 42916211 | - | TSC2 | chr16 | 2108748 | + |
5UTR-3CDS | ENST00000483242 | ENST00000382538 | CCNYL2 | chr10 | 42916211 | - | TSC2 | chr16 | 2108748 | + |
5UTR-3CDS | ENST00000483242 | ENST00000401874 | CCNYL2 | chr10 | 42916211 | - | TSC2 | chr16 | 2108748 | + |
5UTR-3CDS | ENST00000483242 | ENST00000439673 | CCNYL2 | chr10 | 42916211 | - | TSC2 | chr16 | 2108748 | + |
5UTR-3CDS | ENST00000483242 | ENST00000568454 | CCNYL2 | chr10 | 42916211 | - | TSC2 | chr16 | 2108748 | + |
5UTR-intron | ENST00000483242 | ENST00000568366 | CCNYL2 | chr10 | 42916211 | - | TSC2 | chr16 | 2108748 | + |
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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 CCNYL2-TSC2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
CCNYL2 | chr10 | 42916210 | - | TSC2 | chr16 | 2108747 | + | 0.8814249 | 0.11857514 |
CCNYL2 | chr10 | 42916210 | - | TSC2 | chr16 | 2108747 | + | 0.8814249 | 0.11857514 |
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Fusion Protein Features for CCNYL2-TSC2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:42916211/:2108748) - 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 CCNYL2-TSC2 |
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Fusion Gene PPI Analysis for CCNYL2-TSC2 |
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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 CCNYL2-TSC2 |
![]() (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 CCNYL2-TSC2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | 21 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0041341 | Tuberous Sclerosis | 14 | CLINGEN;CTD_human;GENOMICS_ENGLAND | |
Tgene | C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | 6 | CLINGEN | |
Tgene | C0751674 | Lymphangioleiomyomatosis | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0265319 | Fibrous skin tumor of tuberous sclerosis | 4 | CTD_human | |
Tgene | C0022665 | Kidney Neoplasm | 3 | CTD_human | |
Tgene | C0740457 | Malignant neoplasm of kidney | 3 | CTD_human | |
Tgene | C1846385 | FOCAL CORTICAL DYSPLASIA OF TAYLOR | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0022333 | Jacksonian Seizure | 2 | CTD_human | |
Tgene | C0036572 | Seizures | 2 | CTD_human | |
Tgene | C0149958 | Complex partial seizures | 2 | CTD_human | |
Tgene | C0234533 | Generalized seizures | 2 | CTD_human | |
Tgene | C0234535 | Clonic Seizures | 2 | CTD_human | |
Tgene | C0270824 | Visual seizure | 2 | CTD_human | |
Tgene | C0270844 | Tonic Seizures | 2 | CTD_human | |
Tgene | C0270846 | Epileptic drop attack | 2 | CTD_human | |
Tgene | C0422850 | Seizures, Somatosensory | 2 | CTD_human | |
Tgene | C0422852 | Seizures, Auditory | 2 | CTD_human | |
Tgene | C0422853 | Olfactory seizure | 2 | CTD_human | |
Tgene | C0422854 | Gustatory seizure | 2 | CTD_human | |
Tgene | C0422855 | Vertiginous seizure | 2 | CTD_human | |
Tgene | C0494475 | Tonic - clonic seizures | 2 | CTD_human | |
Tgene | C0751056 | Non-epileptic convulsion | 2 | CTD_human | |
Tgene | C0751110 | Single Seizure | 2 | CTD_human | |
Tgene | C0751123 | Atonic Absence Seizures | 2 | CTD_human | |
Tgene | C0751494 | Convulsive Seizures | 2 | CTD_human | |
Tgene | C0751495 | Seizures, Focal | 2 | CTD_human | |
Tgene | C0751496 | Seizures, Sensory | 2 | CTD_human | |
Tgene | C1838327 | Polycystic kidneys, severe infantile with tuberous sclerosis | 2 | ORPHANET | |
Tgene | C3495874 | Nonepileptic Seizures | 2 | CTD_human | |
Tgene | C4048158 | Convulsions | 2 | CTD_human | |
Tgene | C4316903 | Absence Seizures | 2 | CTD_human | |
Tgene | C4317109 | Epileptic Seizures | 2 | CTD_human | |
Tgene | C4317123 | Myoclonic Seizures | 2 | CTD_human | |
Tgene | C4505436 | Generalized Absence Seizures | 2 | CTD_human | |
Tgene | C0004352 | Autistic Disorder | 1 | CTD_human | |
Tgene | C0006111 | Brain Diseases | 1 | CTD_human | |
Tgene | C0007137 | Squamous cell carcinoma | 1 | CTD_human | |
Tgene | C0014544 | Epilepsy | 1 | CTD_human | |
Tgene | C0021368 | Inflammation | 1 | CTD_human | |
Tgene | C0023267 | Fibroid Tumor | 1 | CTD_human | |
Tgene | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human | |
Tgene | C0026640 | Mouth Neoplasms | 1 | CTD_human | |
Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human | |
Tgene | C0027746 | Nerve Degeneration | 1 | CTD_human | |
Tgene | C0030297 | Pancreatic Neoplasm | 1 | CTD_human | |
Tgene | C0032927 | Precancerous Conditions | 1 | CTD_human | |
Tgene | C0037769 | West Syndrome | 1 | CTD_human | |
Tgene | C0042133 | Uterine Fibroids | 1 | CTD_human | |
Tgene | C0085584 | Encephalopathies | 1 | CTD_human | |
Tgene | C0086237 | Epilepsy, Cryptogenic | 1 | CTD_human | |
Tgene | C0153381 | Malignant neoplasm of mouth | 1 | CTD_human | |
Tgene | C0236018 | Aura | 1 | CTD_human | |
Tgene | C0279607 | Adult Hepatocellular Carcinoma | 1 | ORPHANET | |
Tgene | C0282313 | Condition, Preneoplastic | 1 | CTD_human | |
Tgene | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human | |
Tgene | C0393698 | Cryptogenic Infantile Spasms | 1 | CTD_human | |
Tgene | C0393699 | Symptomatic Infantile Spasms | 1 | CTD_human | |
Tgene | C0546878 | Nodding spasm | 1 | CTD_human | |
Tgene | C0553558 | Jackknife Seizures | 1 | CTD_human | |
Tgene | C0684276 | Hypsarrhythmia | 1 | CTD_human | |
Tgene | C0751111 | Awakening Epilepsy | 1 | CTD_human | |
Tgene | C1527306 | spasmus nutans | 1 | CTD_human | |
Tgene | C1527366 | Salaam Seizures | 1 | CTD_human | |
Tgene | C1846386 | Focal Cortical Dysplasia of Taylor, Type IIa | 1 | CTD_human | |
Tgene | C1846389 | Focal Cortical Dysplasia of Taylor, Type IIb | 1 | CTD_human | |
Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |