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Fusion gene ID: 25774 |
FusionGeneSummary for PAFAH1B1_ELOVL7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PAFAH1B1_ELOVL7 | Fusion gene ID: 25774 | Hgene | Tgene | Gene symbol | PAFAH1B1 | ELOVL7 | Gene ID | 5048 | 79993 |
| Gene name | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | ELOVL fatty acid elongase 7 | |
| Synonyms | LIS1|LIS2|MDCR|MDS|NudF|PAFAH | - | |
| Cytomap | 17p13.3 | 5q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | platelet-activating factor acetylhydrolase IB subunit alphalissencephaly 1 proteinplatelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)platelet-activatin | elongation of very long chain fatty acids protein 73-keto acyl-CoA synthase ELOVL7ELOVL FA elongase 7ELOVL family member 7, elongation of long chain fatty acidsvery long chain 3-ketoacyl-CoA synthase 7very long chain 3-oxoacyl-CoA synthase 7 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P43034 | A1L3X0 | |
| Ensembl transtripts involved in fusion gene | ENST00000397195, ENST00000572915, ENST00000451360, | ENST00000508821, ENST00000425382, ENST00000438340, ENST00000505959, | |
| Fusion gene scores | * DoF score | 9 X 6 X 3=162 | 6 X 5 X 6=180 |
| # samples | 9 | 10 | |
| ** MAII score | log2(9/162*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/180*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PAFAH1B1 [Title/Abstract] AND ELOVL7 [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 | PAFAH1B1 | GO:0007017 | microtubule-based process | 11940666 |
| Tgene | ELOVL7 | GO:0019367 | fatty acid elongation, saturated fatty acid | 19826053 |
| Tgene | ELOVL7 | GO:0034626 | fatty acid elongation, polyunsaturated fatty acid | 20937905 |
| Tgene | ELOVL7 | GO:0042761 | very long-chain fatty acid biosynthetic process | 19826053|20937905 |
| 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 | AI934581 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| * 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-3UTR | ENST00000397195 | ENST00000508821 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| 5UTR-3UTR | ENST00000397195 | ENST00000425382 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| 5UTR-3UTR | ENST00000397195 | ENST00000438340 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| 5UTR-3UTR | ENST00000397195 | ENST00000505959 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| intron-3UTR | ENST00000572915 | ENST00000508821 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| intron-3UTR | ENST00000572915 | ENST00000425382 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| intron-3UTR | ENST00000572915 | ENST00000438340 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| intron-3UTR | ENST00000572915 | ENST00000505959 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| intron-3UTR | ENST00000451360 | ENST00000508821 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| intron-3UTR | ENST00000451360 | ENST00000425382 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| intron-3UTR | ENST00000451360 | ENST00000438340 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
| intron-3UTR | ENST00000451360 | ENST00000505959 | PAFAH1B1 | chr17 | 2497210 | - | ELOVL7 | chr5 | 60047749 | + |
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FusionProtFeatures for PAFAH1B1_ELOVL7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PAFAH1B1 | ELOVL7 |
| Required for proper activation of Rho GTPases and actinpolymerization at the leading edge of locomoting cerebellarneurons and postmigratory hippocampal neurons in response tocalcium influx triggered via NMDA receptors. Non-catalytic subunitof an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2position (By similarity). Positively regulates the activity of theminus-end directed microtubule motor protein dynein. May enhancedynein-mediated microtubule sliding by targeting dynein to themicrotubule plus end. Required for several dynein- andmicrotubule-dependent processes such as the maintenance of Golgiintegrity, the peripheral transport of microtubule fragments andthe coupling of the nucleus and centrosome. Required during braindevelopment for the proliferation of neuronal precursors and themigration of newly formed neurons from theventricular/subventricular zone toward the cortical plate.Neuronal migration involves a process called nucleokinesis,whereby migrating cells extend an anterior process into which thenucleus subsequently translocates. During nucleokinesis dynein atthe nuclear surface may translocate the nucleus towards thecentrosome by exerting force on centrosomal microtubules. May alsoplay a role in other forms of cell locomotion including themigration of fibroblasts during wound healing. Required for dyneinrecruitment to microtubule plus ends and BICD2-bound cargos(PubMed:22956769). {ECO:0000250|UniProtKB:P63005,ECO:0000269|PubMed:15173193, ECO:0000269|PubMed:22956769}. | Catalyzes the first and rate-limiting reaction of thefour that constitute the long-chain fatty acids elongation cycle.This endoplasmic reticulum-bound enzymatic process, allows theaddition of 2 carbons to the chain of long- and very long-chainfatty acids/VLCFAs per cycle. Condensing enzyme with higheractivity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs andC18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-,C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or noactivity toward C22:0-, C24:0-, or C26:0-CoAs. May participate inthe production of saturated and polyunsaturated VLCFAs ofdifferent chain lengths that are involved in multiple biologicalprocesses as precursors of membrane lipids and lipid mediators.{ECO:0000255|HAMAP-Rule:MF_03207, ECO:0000269|PubMed:19826053,ECO:0000269|PubMed:20937905, ECO:0000269|PubMed:21959040}. |
| 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 PAFAH1B1_ELOVL7 |
| 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 PAFAH1B1_ELOVL7 |
| 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 PAFAH1B1_ELOVL7 |
| 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 PAFAH1B1_ELOVL7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PAFAH1B1 | C0431375 | Classical Lissencephaly | 5 | ORPHANET;UNIPROT |
| Hgene | PAFAH1B1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | PAFAH1B1 | C0596263 | Carcinogenesis | 1 | CTD_human |
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