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Fusion gene ID: 8400 |
FusionGeneSummary for CREB3L2_ATP6V0A4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CREB3L2_ATP6V0A4 | Fusion gene ID: 8400 | Hgene | Tgene | Gene symbol | CREB3L2 | ATP6V0A4 | Gene ID | 64764 | 50617 |
| Gene name | cAMP responsive element binding protein 3 like 2 | ATPase H+ transporting V0 subunit a4 | |
| Synonyms | BBF2H7 | A4|ATP6N1B|ATP6N2|RDRTA2|RTA1C|RTADR|STV1|VPH1|VPP2 | |
| Cytomap | 7q33 | 7q34 | |
| 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 | V-type proton ATPase 116 kDa subunit a isoform 4V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1BATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic ac | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q70SY1 | Q9HBG4 | |
| Ensembl transtripts involved in fusion gene | ENST00000330387, ENST00000456390, ENST00000452463, ENST00000458726, ENST00000468127, | ENST00000393054, ENST00000310018, ENST00000353492, ENST00000483139, | |
| Fusion gene scores | * DoF score | 11 X 10 X 3=330 | 2 X 2 X 2=8 |
| # samples | 13 | 2 | |
| ** MAII score | log2(13/330*10)=-1.34395440121736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CREB3L2 [Title/Abstract] AND ATP6V0A4 [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 |
| Hgene | CREB3L2 | GO:0045893 | positive regulation of transcription, DNA-templated | 17178827 |
| 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 |
| TCGA | LD | BRCA | TCGA-B6-A0RS-01A | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| * 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-3CDS | ENST00000330387 | ENST00000393054 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000330387 | ENST00000310018 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000330387 | ENST00000353492 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-intron | ENST00000330387 | ENST00000483139 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000456390 | ENST00000393054 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000456390 | ENST00000310018 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000456390 | ENST00000353492 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-intron | ENST00000456390 | ENST00000483139 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000452463 | ENST00000393054 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000452463 | ENST00000310018 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000452463 | ENST00000353492 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-intron | ENST00000452463 | ENST00000483139 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000458726 | ENST00000393054 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000458726 | ENST00000310018 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000458726 | ENST00000353492 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-intron | ENST00000458726 | ENST00000483139 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000468127 | ENST00000393054 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000468127 | ENST00000310018 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-3CDS | ENST00000468127 | ENST00000353492 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
| intron-intron | ENST00000468127 | ENST00000483139 | CREB3L2 | chr7 | 137564036 | - | ATP6V0A4 | chr7 | 138434062 | - |
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FusionProtFeatures for CREB3L2_ATP6V0A4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CREB3L2 | ATP6V0A4 |
| 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}. | Part of the proton channel of the V-ATPase that isinvolved in normal vectorial acid transport into the urine by thekidney. {ECO:0000250}. |
| 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 CREB3L2_ATP6V0A4 |
| 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 CREB3L2_ATP6V0A4 |
| 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 |
| CREB3L2 | ELAVL1, PTP4A1, RND1, ZNF212, CEP19, PXN, RGS16, GCFC2, GAS7, GULP1, CREB3, FBXW7, CREB3L1, TRIM25 | ATP6V0A4 | PFKM, HYPK |
| - 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 CREB3L2_ATP6V0A4 |
| 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 CREB3L2_ATP6V0A4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ATP6V0A4 | C1864498 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE | 2 | CTD_human;ORPHANET;UNIPROT |
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