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Fusion gene ID: 8408 |
FusionGeneSummary for CREB3L2_PCM1 |
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Fusion gene information | Fusion gene name: CREB3L2_PCM1 | Fusion gene ID: 8408 | Hgene | Tgene | Gene symbol | CREB3L2 | PCM1 | Gene ID | 64764 | 5108 |
Gene name | cAMP responsive element binding protein 3 like 2 | pericentriolar material 1 | |
Synonyms | BBF2H7 | PTC4|RET/PCM-1 | |
Cytomap | 7q33 | 8p22 | |
Type of gene | protein-coding | protein-coding | |
Description | cyclic AMP-responsive element-binding protein 3-like protein 2B-ZIB transcription factorBBF2 human homolog on chromosome 7FUS/BBF2H7 proteinTCAG_1951439basic transcription factor 2cAMP-responsive element-binding protein 3-like protein 2 | pericentriolar material 1 proteinPCM-1hPCM-1pericentriolar material 1, PCM1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q70SY1 | Q15154 | |
Ensembl transtripts involved in fusion gene | ENST00000330387, ENST00000456390, ENST00000452463, ENST00000458726, ENST00000468127, | ENST00000325083, ENST00000519253, ENST00000524226, ENST00000518537, ENST00000518936, ENST00000327578, | |
Fusion gene scores | * DoF score | 11 X 10 X 3=330 | 5 X 5 X 3=75 |
# samples | 13 | 5 | |
** MAII score | log2(13/330*10)=-1.34395440121736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CREB3L2 [Title/Abstract] AND PCM1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CREB3L2 | GO:0045893 | positive regulation of transcription, DNA-templated | 17178827 |
![]() (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 | BF369730 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3CDS | ENST00000330387 | ENST00000325083 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000330387 | ENST00000519253 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000330387 | ENST00000524226 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000330387 | ENST00000518537 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000330387 | ENST00000518936 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000330387 | ENST00000327578 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000456390 | ENST00000325083 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000456390 | ENST00000519253 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000456390 | ENST00000524226 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000456390 | ENST00000518537 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000456390 | ENST00000518936 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000456390 | ENST00000327578 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000452463 | ENST00000325083 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000452463 | ENST00000519253 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000452463 | ENST00000524226 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000452463 | ENST00000518537 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000452463 | ENST00000518936 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000452463 | ENST00000327578 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000458726 | ENST00000325083 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000458726 | ENST00000519253 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000458726 | ENST00000524226 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000458726 | ENST00000518537 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000458726 | ENST00000518936 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000458726 | ENST00000327578 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000468127 | ENST00000325083 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000468127 | ENST00000519253 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-3CDS | ENST00000468127 | ENST00000524226 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000468127 | ENST00000518537 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000468127 | ENST00000518936 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
intron-intron | ENST00000468127 | ENST00000327578 | CREB3L2 | chr7 | 137561684 | + | PCM1 | chr8 | 17869231 | - |
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FusionProtFeatures for CREB3L2_PCM1 |
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Hgene | Tgene |
CREB3L2 | PCM1 |
Transcription factor involved in unfolded proteinresponse (UPR). In the absence of endoplasmic reticulum (ER)stress, inserted into ER membranes, with N-terminal DNA-bindingand transcription activation domains oriented toward the cytosolicface of the membrane. In response to ER stress, transported to theGolgi, where it is cleaved in a site-specific manner by residentproteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminalcytosolic domain is translocated to the nucleus to effecttranscription of specific target genes. Plays a critical role inchondrogenesis by activating the transcription of SEC23A, whichpromotes the transport and secretion of cartilage matrix proteins,and possibly that of ER biogenesis-related genes (By similarity).In a neuroblastoma cell line, protects cells from ER stress-induced death (PubMed:17178827). In vitro activates transcriptionof target genes via direct binding to the CRE site(PubMed:17178827). {ECO:0000250|UniProtKB:Q8BH52,ECO:0000269|PubMed:17178827}. |
![]() * 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 CREB3L2_PCM1 |
![]() (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 CREB3L2_PCM1 |
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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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RelatedDrugs for CREB3L2_PCM1 |
![]() (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 CREB3L2_PCM1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PCM1 | C0036341 | Schizophrenia | 1 | CTD_human |