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Fusion gene ID: 224 |
FusionGeneSummary for ABHD2_NFX1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ABHD2_NFX1 | Fusion gene ID: 224 | Hgene | Tgene | Gene symbol | ABHD2 | NFX1 | Gene ID | 11057 | 4799 |
| Gene name | abhydrolase domain containing 2 | nuclear transcription factor, X-box binding 1 | |
| Synonyms | HS1-2|LABH2|PHPS1-2 | NFX2|TEG-42|Tex42 | |
| Cytomap | 15q26.1 | 9p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | transcriptional repressor NF-X1nuclear transcription factor, X box-binding protein 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P08910 | Q12986 | |
| Ensembl transtripts involved in fusion gene | ENST00000352732, ENST00000565973, ENST00000355100, ENST00000562254, | ENST00000379540, ENST00000379521, ENST00000318524, ENST00000463421, | |
| Fusion gene scores | * DoF score | 4 X 5 X 3=60 | 9 X 8 X 5=360 |
| # samples | 6 | 9 | |
| ** MAII score | log2(6/60*10)=0 | log2(9/360*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ABHD2 [Title/Abstract] AND NFX1 [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 | ABHD2 | GO:0032570 | response to progesterone | 26989199 |
| Hgene | ABHD2 | GO:0043401 | steroid hormone mediated signaling pathway | 26989199 |
| Hgene | ABHD2 | GO:0046464 | acylglycerol catabolic process | 26989199 |
| Hgene | ABHD2 | GO:0048240 | sperm capacitation | 26989199 |
| Tgene | NFX1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 7964459 |
| 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 | DB209231 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| * 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 |
| 5UTR-3CDS | ENST00000352732 | ENST00000379540 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 5UTR-3CDS | ENST00000352732 | ENST00000379521 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 5UTR-3CDS | ENST00000352732 | ENST00000318524 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 5UTR-intron | ENST00000352732 | ENST00000463421 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 5UTR-3CDS | ENST00000565973 | ENST00000379540 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 5UTR-3CDS | ENST00000565973 | ENST00000379521 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 5UTR-3CDS | ENST00000565973 | ENST00000318524 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 5UTR-intron | ENST00000565973 | ENST00000463421 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| intron-3CDS | ENST00000355100 | ENST00000379540 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| intron-3CDS | ENST00000355100 | ENST00000379521 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| intron-3CDS | ENST00000355100 | ENST00000318524 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| intron-intron | ENST00000355100 | ENST00000463421 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 3UTR-3CDS | ENST00000562254 | ENST00000379540 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 3UTR-3CDS | ENST00000562254 | ENST00000379521 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 3UTR-3CDS | ENST00000562254 | ENST00000318524 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
| 3UTR-intron | ENST00000562254 | ENST00000463421 | ABHD2 | chr15 | 89631796 | + | NFX1 | chr9 | 33301258 | + |
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FusionProtFeatures for ABHD2_NFX1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ABHD2 | NFX1 |
| 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}. | Binds to the X-box motif of MHC class II genes andrepresses their expression. May play an important role inregulating the duration of an inflammatory response by limitingthe period in which MHC class II molecules are induced byinterferon-gamma. Isoform 3 binds to the X-box motif of TERTpromoter and represses its expression. Together with PABPC1 orPABPC4, isoform 1 acts as a coactivator for TERT expression.Mediates E2-dependent ubiquitination.{ECO:0000269|PubMed:10500182, ECO:0000269|PubMed:15371341,ECO:0000269|PubMed:17267499}. |
| 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 ABHD2_NFX1 |
| 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 ABHD2_NFX1 |
| 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 |
| ABHD2 | NFX1 | UBE2N, MAML3, SIN3A, USP9X, PABPC1, EEF1A2, MATR3, PABPC3, HSPA1A, HNRNPM, HNRNPU, RPL13, SRSF4, HIST1H2AE, RPL7A, FAM208B, LARP1, DDX5, DMD, NCL, RPL13A, RPL17, RPL22, RPL3, RPL6, HNRNPA2B1, HNRNPH1, RPS19, RPS3A, SRSF3, APC2, YBX1, HIST1H4E, HECW2, SHMT2, MOV10, NXF1, BMI1, XPO1, FAM46A, APBA3, ZNF263, UBC |
| - 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 ABHD2_NFX1 |
| 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 ABHD2_NFX1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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