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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:CRYAB-ECT2L (FusionGDB2 ID:HG1410TG345930) |
Fusion Gene Summary for CRYAB-ECT2L |
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Fusion gene information | Fusion gene name: CRYAB-ECT2L | Fusion gene ID: hg1410tg345930 | Hgene | Tgene | Gene symbol | CRYAB | ECT2L | Gene ID | 1410 | 345930 |
Gene name | crystallin alpha B | epithelial cell transforming 2 like | |
Synonyms | CMD1II|CRYA2|CTPP2|CTRCT16|HEL-S-101|HSPB5|MFM2 | ARHGEF32|C6orf91|FBXO49|LFDH|dJ509I19.2|dJ509I19.3|dJ509I19.5 | |
Cytomap | ('CRYAB')('ECT2L') 11q23.1 | 6q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | alpha-crystallin B chainepididymis secretory protein Li 101heat shock protein beta-5heat-shock 20 kD like-proteinrenal carcinoma antigen NY-REN-27rosenthal fiber component | epithelial cell-transforming sequence 2 oncogene-likeECT2-likeF-box protein 49lung specific F-box and DH domain containing proteinputative guanine nucleotide exchange factor LFDH | |
Modification date | 20200328 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000227251, ENST00000525823, ENST00000527950, ENST00000533280, ENST00000533475, ENST00000526180, ENST00000531198, ENST00000533971, | ||
Fusion gene scores | * DoF score | 6 X 6 X 2=72 | 3 X 4 X 2=24 |
# samples | 6 | 4 | |
** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CRYAB [Title/Abstract] AND ECT2L [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CRYAB(111779349)-ECT2L(139148496), # 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 | CRYAB | GO:0031333 | negative regulation of protein complex assembly | 23106396 |
Hgene | CRYAB | GO:0032387 | negative regulation of intracellular transport | 14752512 |
Hgene | CRYAB | GO:0043066 | negative regulation of apoptotic process | 14752512 |
Hgene | CRYAB | GO:0045892 | negative regulation of transcription, DNA-templated | 20587334 |
Hgene | CRYAB | GO:1905907 | negative regulation of amyloid fibril formation | 23106396 |
![]() * 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 |
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Fusion Gene ORF analysis for CRYAB-ECT2L |
![]() * 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 |
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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 CRYAB-ECT2L |
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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 CRYAB-ECT2L |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:111779349/:139148496) - 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 CRYAB-ECT2L |
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Fusion Gene PPI Analysis for CRYAB-ECT2L |
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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 CRYAB-ECT2L |
![]() (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 CRYAB-ECT2L |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CRYAB | C1837317 | Alpha-B Crystallinopathy | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | CRYAB | C0392557 | Nuclear cataract | 3 | ORPHANET |
Hgene | CRYAB | C1112705 | Nuclear non-senile cataract | 3 | ORPHANET |
Hgene | CRYAB | C0340427 | Familial dilated cardiomyopathy | 2 | ORPHANET |
Hgene | CRYAB | C0858617 | Posterior subcapsular cataract | 2 | ORPHANET |
Hgene | CRYAB | C3554649 | CARDIOMYOPATHY, DILATED, 1II | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | CRYAB | C3808377 | CATARACT 16, MULTIPLE TYPES | 2 | CTD_human;GENOMICS_ENGLAND |
Hgene | CRYAB | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Hgene | CRYAB | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Hgene | CRYAB | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Hgene | CRYAB | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | CRYAB | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Hgene | CRYAB | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | CRYAB | C0026640 | Mouth Neoplasms | 1 | CTD_human |
Hgene | CRYAB | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | CRYAB | C0040411 | Tongue Neoplasms | 1 | CTD_human |
Hgene | CRYAB | C0086543 | Cataract | 1 | CTD_human |
Hgene | CRYAB | C0153349 | Malignant neoplasm of tongue | 1 | CTD_human |
Hgene | CRYAB | C0153381 | Malignant neoplasm of mouth | 1 | CTD_human |
Hgene | CRYAB | C0270715 | Degenerative Diseases, Central Nervous System | 1 | CTD_human |
Hgene | CRYAB | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
Hgene | CRYAB | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | CRYAB | C0524524 | Pseudoaphakia | 1 | CTD_human |
Hgene | CRYAB | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
Hgene | CRYAB | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human |
Hgene | CRYAB | C0751733 | Degenerative Diseases, Spinal Cord | 1 | CTD_human |
Hgene | CRYAB | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
Hgene | CRYAB | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
Hgene | CRYAB | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
Hgene | CRYAB | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
Hgene | CRYAB | C1510497 | Lens Opacities | 1 | CTD_human |
Hgene | CRYAB | C2678065 | Myofibrillar Myopathy | 1 | GENOMICS_ENGLAND |
Hgene | CRYAB | C3151236 | MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |