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Fusion gene ID: 1944 |
FusionGeneSummary for ANO6_PRKAB2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANO6_PRKAB2 | Fusion gene ID: 1944 | Hgene | Tgene | Gene symbol | ANO6 | PRKAB2 | Gene ID | 196527 | 5565 |
| Gene name | anoctamin 6 | protein kinase AMP-activated non-catalytic subunit beta 2 | |
| Synonyms | BDPLT7|SCTS|TMEM16F | - | |
| Cytomap | 12q12 | 1q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | anoctamin-6SCAN channelsmall-conductance calcium-activated nonselective cation channeltransmembrane protein 16F | 5'-AMP-activated protein kinase subunit beta-25'-AMP-activated protein kinase, beta-2 subunitAMP-activated protein kinase beta 2 non-catalytic subunitAMPK beta 2AMPK beta-2 chainAMPK subunit beta-2protein kinase, AMP-activated, beta 2 non-catalytic | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q4KMQ2 | O43741 | |
| Ensembl transtripts involved in fusion gene | ENST00000426898, ENST00000425752, ENST00000423947, ENST00000435642, ENST00000320560, ENST00000441606, | ENST00000254101, ENST00000496858, ENST00000425272, | |
| Fusion gene scores | * DoF score | 9 X 8 X 6=432 | 2 X 2 X 1=4 |
| # samples | 9 | 2 | |
| ** MAII score | log2(9/432*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: ANO6 [Title/Abstract] AND PRKAB2 [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 | ANO6 | GO:0006812 | cation transport | 22946059 |
| 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 | AA836812 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| * 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-3UTR | ENST00000426898 | ENST00000254101 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-intron | ENST00000426898 | ENST00000496858 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-intron | ENST00000426898 | ENST00000425272 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-3UTR | ENST00000425752 | ENST00000254101 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-intron | ENST00000425752 | ENST00000496858 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-intron | ENST00000425752 | ENST00000425272 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-3UTR | ENST00000423947 | ENST00000254101 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-intron | ENST00000423947 | ENST00000496858 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-intron | ENST00000423947 | ENST00000425272 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-3UTR | ENST00000435642 | ENST00000254101 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-intron | ENST00000435642 | ENST00000496858 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| intron-intron | ENST00000435642 | ENST00000425272 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| 3UTR-3UTR | ENST00000320560 | ENST00000254101 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| 3UTR-intron | ENST00000320560 | ENST00000496858 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| 3UTR-intron | ENST00000320560 | ENST00000425272 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| 3UTR-3UTR | ENST00000441606 | ENST00000254101 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| 3UTR-intron | ENST00000441606 | ENST00000496858 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
| 3UTR-intron | ENST00000441606 | ENST00000425272 | ANO6 | chr12 | 45825749 | - | PRKAB2 | chr1 | 146626712 | + |
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FusionProtFeatures for ANO6_PRKAB2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANO6 | PRKAB2 |
| Small-conductance calcium-activated nonselective cation(SCAN) channel which acts as a regulator of phospholipidscrambling in platelets and osteoblasts. Phospholipid scramblingresults in surface exposure of phosphatidylserine which inplatelets is essential to trigger the clotting system whereas inosteoblasts is essential for the deposition of hydroxyapatiteduring bone mineralization. Has calcium-dependent phospholipidscramblase activity; scrambles phosphatidylserine,phosphatidylcholine and galactosylceramide (By similarity). Cangenerate outwardly rectifying chloride channel currents in airwayepithelial cells and Jurkat T lymphocytes.{ECO:0000250|UniProtKB:Q6P9J9, ECO:0000269|PubMed:20056604,ECO:0000269|PubMed:21107324, ECO:0000269|PubMed:21908539,ECO:0000269|PubMed:22006324, ECO:0000269|PubMed:22946059}. | Non-catalytic subunit of AMP-activated protein kinase(AMPK), an energy sensor protein kinase that plays a key role inregulating cellular energy metabolism. In response to reduction ofintracellular ATP levels, AMPK activates energy-producing pathwaysand inhibits energy-consuming processes: inhibits protein,carbohydrate and lipid biosynthesis, as well as cell growth andproliferation. AMPK acts via direct phosphorylation of metabolicenzymes, and by longer-term effects via phosphorylation oftranscription regulators. Also acts as a regulator of cellularpolarity by remodeling the actin cytoskeleton; probably byindirectly activating myosin. Beta non-catalytic subunit acts as ascaffold on which the AMPK complex assembles, via its C-terminusthat bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1,PRKAG2 or PRKAG3). |
| 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 ANO6_PRKAB2 |
| 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 ANO6_PRKAB2 |
| 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 ANO6_PRKAB2 |
| 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 ANO6_PRKAB2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ANO6 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | ANO6 | C0038013 | Ankylosing spondylitis | 1 | CTD_human |
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