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Fusion gene ID: 21337 |
FusionGeneSummary for MCTP2_CRYAB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MCTP2_CRYAB | Fusion gene ID: 21337 | Hgene | Tgene | Gene symbol | MCTP2 | CRYAB | Gene ID | 55784 | 1410 |
| Gene name | multiple C2 and transmembrane domain containing 2 | crystallin alpha B | |
| Synonyms | - | CMD1II|CRYA2|CTPP2|CTRCT16|HEL-S-101|HSPB5|MFM2 | |
| Cytomap | 15q26.2 | 11q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | multiple C2 and transmembrane domain-containing protein 2multiple C2 domains, transmembrane 2multiple C2-domains with two transmembrane regions 2 1 | alpha-crystallin B chainepididymis secretory protein Li 101heat shock protein beta-5heat-shock 20 kD like-proteinrenal carcinoma antigen NY-REN-27rosenthal fiber component | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q6DN12 | P02511 | |
| Ensembl transtripts involved in fusion gene | ENST00000543482, ENST00000331706, ENST00000451018, ENST00000357742, ENST00000557742, ENST00000449432, | ENST00000526180, ENST00000533280, ENST00000525823, ENST00000533475, ENST00000527950, ENST00000227251, ENST00000531198, ENST00000533971, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 4 X 4 X 2=32 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: MCTP2 [Title/Abstract] AND CRYAB [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 | CRYAB | GO:0032387 | negative regulation of intracellular transport | 14752512 |
| Tgene | CRYAB | GO:0032463 | negative regulation of protein homooligomerization | 23106396 |
| Tgene | CRYAB | GO:0043066 | negative regulation of apoptotic process | 14752512 |
| Tgene | CRYAB | GO:0051260 | protein homooligomerization | 16303126 |
| Tgene | CRYAB | GO:1905907 | negative regulation of amyloid fibril formation | 23106396 |
| 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 |
| ChiTaRS3.1 | AK130291 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| * 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 |
| intron-intron | ENST00000543482 | ENST00000526180 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000543482 | ENST00000533280 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000543482 | ENST00000525823 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000543482 | ENST00000533475 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000543482 | ENST00000527950 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000543482 | ENST00000227251 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000543482 | ENST00000531198 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000543482 | ENST00000533971 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000331706 | ENST00000526180 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000331706 | ENST00000533280 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000331706 | ENST00000525823 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000331706 | ENST00000533475 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000331706 | ENST00000527950 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000331706 | ENST00000227251 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000331706 | ENST00000531198 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000331706 | ENST00000533971 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000451018 | ENST00000526180 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000451018 | ENST00000533280 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000451018 | ENST00000525823 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000451018 | ENST00000533475 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000451018 | ENST00000527950 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000451018 | ENST00000227251 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000451018 | ENST00000531198 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000451018 | ENST00000533971 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000357742 | ENST00000526180 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000357742 | ENST00000533280 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000357742 | ENST00000525823 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000357742 | ENST00000533475 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000357742 | ENST00000527950 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000357742 | ENST00000227251 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000357742 | ENST00000531198 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000357742 | ENST00000533971 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000557742 | ENST00000526180 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000557742 | ENST00000533280 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000557742 | ENST00000525823 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000557742 | ENST00000533475 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000557742 | ENST00000527950 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000557742 | ENST00000227251 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000557742 | ENST00000531198 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000557742 | ENST00000533971 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000449432 | ENST00000526180 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000449432 | ENST00000533280 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000449432 | ENST00000525823 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000449432 | ENST00000533475 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000449432 | ENST00000527950 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000449432 | ENST00000227251 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000449432 | ENST00000531198 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
| intron-intron | ENST00000449432 | ENST00000533971 | MCTP2 | chr15 | 94856827 | + | CRYAB | chr11 | 111780133 | + |
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FusionProtFeatures for MCTP2_CRYAB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MCTP2 | CRYAB |
| Might play a role in the development of cardiac outflowtract. {ECO:0000269|PubMed:23773997}. | May contribute to the transparency and refractive indexof the lens. Has chaperone-like activity, preventing aggregationof various proteins under a wide range of stress conditions. |
| 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 MCTP2_CRYAB |
| 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 MCTP2_CRYAB |
| 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 |
| - 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 MCTP2_CRYAB |
| 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 MCTP2_CRYAB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MCTP2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | MCTP2 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Hgene | MCTP2 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | CRYAB | C1837317 | Alpha-B Crystallinopathy | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CRYAB | C3554649 | CARDIOMYOPATHY, DILATED, 1II | 2 | UNIPROT |
| Tgene | CRYAB | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | CRYAB | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Tgene | CRYAB | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | CRYAB | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | CRYAB | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | CRYAB | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Tgene | CRYAB | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | CRYAB | C0040411 | Tongue Neoplasms | 1 | CTD_human |
| Tgene | CRYAB | C0086543 | Cataract | 1 | CTD_human;HPO |
| Tgene | CRYAB | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
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