|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 7332 |
FusionGeneSummary for CLCNKB_ABHD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CLCNKB_ABHD2 | Fusion gene ID: 7332 | Hgene | Tgene | Gene symbol | CLCNKB | ABHD2 | Gene ID | 1188 | 11057 |
| Gene name | chloride voltage-gated channel Kb | abhydrolase domain containing 2 | |
| Synonyms | CLCKB|ClC-K2|ClC-Kb | HS1-2|LABH2|PHPS1-2 | |
| Cytomap | 1p36.13 | 15q26.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | chloride channel protein ClC-Kbchloride channel, kidney, Bchloride channel, voltage-sensitive Kb | monoacylglycerol lipase ABHD22-arachidonoylglycerol hydrolaseabhydrolase domain-containing protein 2alpha/beta hydrolase domain containing protein 2lung alpha/beta hydrolase 2protein PHPS1-2testicular tissue protein Li 6 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P51801 | P08910 | |
| Ensembl transtripts involved in fusion gene | ENST00000375679, ENST00000375667, | ENST00000352732, ENST00000565973, ENST00000355100, ENST00000562254, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 7 X 7 X 3=147 |
| # samples | 1 | 9 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(9/147*10)=-0.70781924850669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CLCNKB [Title/Abstract] AND ABHD2 [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 | ABHD2 | GO:0032570 | response to progesterone | 26989199 |
| Tgene | ABHD2 | GO:0043401 | steroid hormone mediated signaling pathway | 26989199 |
| Tgene | ABHD2 | GO:0046464 | acylglycerol catabolic process | 26989199 |
| Tgene | ABHD2 | GO:0048240 | sperm capacitation | 26989199 |
| 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 | BF822523 | CLCNKB | chr1 | 16376377 | - | ABHD2 | chr15 | 89742839 | - |
| * 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 |
| 5CDS-3UTR | ENST00000375679 | ENST00000352732 | CLCNKB | chr1 | 16376377 | - | ABHD2 | chr15 | 89742839 | - |
| 5CDS-intron | ENST00000375679 | ENST00000565973 | CLCNKB | chr1 | 16376377 | - | ABHD2 | chr15 | 89742839 | - |
| 5CDS-3UTR | ENST00000375679 | ENST00000355100 | CLCNKB | chr1 | 16376377 | - | ABHD2 | chr15 | 89742839 | - |
| 5CDS-intron | ENST00000375679 | ENST00000562254 | CLCNKB | chr1 | 16376377 | - | ABHD2 | chr15 | 89742839 | - |
| 5CDS-3UTR | ENST00000375667 | ENST00000352732 | CLCNKB | chr1 | 16376377 | - | ABHD2 | chr15 | 89742839 | - |
| 5CDS-intron | ENST00000375667 | ENST00000565973 | CLCNKB | chr1 | 16376377 | - | ABHD2 | chr15 | 89742839 | - |
| 5CDS-3UTR | ENST00000375667 | ENST00000355100 | CLCNKB | chr1 | 16376377 | - | ABHD2 | chr15 | 89742839 | - |
| 5CDS-intron | ENST00000375667 | ENST00000562254 | CLCNKB | chr1 | 16376377 | - | ABHD2 | chr15 | 89742839 | - |
Top |
FusionProtFeatures for CLCNKB_ABHD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CLCNKB | ABHD2 |
| Voltage-gated chloride channel. Chloride channels haveseveral functions including the regulation of cell volume;membrane potential stabilization, signal transduction andtransepithelial transport. May be important in urinaryconcentrating mechanisms. {ECO:0000269|PubMed:11734858}. | Progesterone-dependent acylglycerol lipase thatcatalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG)from cell membrane (PubMed:26989199). Acts as a progesteronereceptor: progesterone-binding activates the acylglycerol lipaseactivity, mediating degradation of 1-arachidonoylglycerol (1AG)and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid(AA) (PubMed:26989199). Plays a key role in sperm capacitation inresponse to progesterone by mediating degradation of 2AG, aninhibitor of the sperm calcium channel CatSper, leading to calciuminflux via CatSper and sperm activation (PubMed:26989199). Mayalso play a role in smooth muscle cells migration (By similarity).{ECO:0000250|UniProtKB:Q9QXM0, ECO:0000269|PubMed:26989199}. |
| 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 |
Top |
FusionGeneSequence for CLCNKB_ABHD2 |
| 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). |
Top |
FusionGenePPI for CLCNKB_ABHD2 |
| 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 |
Top |
RelatedDrugs for CLCNKB_ABHD2 |
| 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 |
Top |
RelatedDiseases for CLCNKB_ABHD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CLCNKB | C0004775 | Bartter Disease | 1 | CTD_human |
| Hgene | CLCNKB | C1846343 | Bartter syndrome, type 3 | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|