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Fusion gene ID: 27174 |
FusionGeneSummary for PIK3AP1_AVPI1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PIK3AP1_AVPI1 | Fusion gene ID: 27174 | Hgene | Tgene | Gene symbol | PIK3AP1 | AVPI1 | Gene ID | 118788 | 60370 |
| Gene name | phosphoinositide-3-kinase adaptor protein 1 | arginine vasopressin induced 1 | |
| Synonyms | BCAP | PP5395|VIP32|VIT32 | |
| Cytomap | 10q24.1 | 10q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphoinositide 3-kinase adapter protein 1B cell adaptor proteinB-cell adapter for phosphoinositide 3-kinaseB-cell phosphoinositide 3-kinase adapter protein 1 | arginine vasopressin-induced protein 1AVP-induced protein 1vasopressin-induced transcript | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q6ZUJ8 | Q5T686 | |
| Ensembl transtripts involved in fusion gene | ENST00000339364, ENST00000468783, ENST00000371110, ENST00000371109, | ENST00000370626, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 2 X 1 X 1=2 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/2*10)=2.32192809488736 | |
| Context | PubMed: PIK3AP1 [Title/Abstract] AND AVPI1 [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 |
| 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 | RV | LIHC | TCGA-KR-A7K8-01A | PIK3AP1 | chr10 | 98408416 | - | AVPI1 | chr10 | 99437782 | - |
| * 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 |
| Frame-shift | ENST00000339364 | ENST00000370626 | PIK3AP1 | chr10 | 98408416 | - | AVPI1 | chr10 | 99437782 | - |
| 5UTR-3CDS | ENST00000468783 | ENST00000370626 | PIK3AP1 | chr10 | 98408416 | - | AVPI1 | chr10 | 99437782 | - |
| In-frame | ENST00000371110 | ENST00000370626 | PIK3AP1 | chr10 | 98408416 | - | AVPI1 | chr10 | 99437782 | - |
| intron-3CDS | ENST00000371109 | ENST00000370626 | PIK3AP1 | chr10 | 98408416 | - | AVPI1 | chr10 | 99437782 | - |
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FusionProtFeatures for PIK3AP1_AVPI1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIK3AP1 | AVPI1 |
| Signaling adapter that contributes to B-cell developmentby linking B-cell receptor (BCR) signaling to the phosphoinositide3-kinase (PI3K)-Akt signaling pathway. Has a complementary role tothe BCR coreceptor CD19, coupling BCR and PI3K activation byproviding a docking site for the PI3K subunit PIK3R1.Alternatively, links Toll-like receptor (TLR) signaling to PI3Kactivation, a process preventing excessive inflammatory cytokineproduction. Also involved in the activation of PI3K in naturalkiller cells. May be involved in the survival of mature B-cellsvia activation of REL. {ECO:0000269|PubMed:15893754}. | May be involved in MAP kinase activation, epithelialsodium channel (ENaC) down-regulation and cell cycling.{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 PIK3AP1_AVPI1 |
| 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. |
| >In-frame_PIK3AP1_ENST00000371110_chr10_98408416_-_AVPI1_ENST00000370626_chr10_99437782_-_269aa MVVQPDRIRCGAETTVYVIVRCKLDDRVATEAEFSPEDSPSVRMEAKVENEYTISVKAPNLSSGNVSLKIYSGDLVVCETVISYYTDMEE IGNLLSNAANPVEFMCQAFKIVPYNTETLDKLLTESLKNNIPASGLHLFGINQLEEEDMMTNQRDEELPTLLHFAAKYGLKNLTALLLTC |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PIK3AP1_ENST00000371110_chr10_98408416_-_AVPI1_ENST00000370626_chr10_99437782_-_808nt ATGGTGGTGCAGCCGGACCGCATTCGCTGTGGGGCAGAAACCACTGTCTATGTTATTGTGAGATGTAAGCTGGATGACAGGGTGGCGACA GAAGCAGAGTTTTCTCCTGAGGATTCTCCCTCTGTAAGGATGGAAGCCAAGGTGGAGAATGAGTACACCATTTCAGTGAAGGCTCCCAAC CTTTCATCTGGGAACGTTTCTCTGAAGATATATTCTGGAGACTTAGTGGTGTGTGAAACCGTTATCAGCTATTATACTGACATGGAAGAA ATTGGGAATTTATTGTCCAATGCCGCGAATCCTGTGGAATTCATGTGTCAGGCCTTTAAAATTGTGCCCTACAACACAGAGACCCTTGAT AAACTGCTAACCGAATCCCTGAAGAACAATATCCCTGCAAGCGGACTGCACCTCTTTGGAATCAACCAGCTGGAAGAAGAAGATATGATG ACAAATCAGAGGGATGAAGAGCTGCCCACCCTGTTGCATTTTGCTGCGAAGTATGGACTGAAGAACCTCACTGCCTTGTTGCTCACCTGC CCAGGAGCCCTGCAGGCGTACAGCGTGGCCAACAAGCATGGCCACTACCCCAACACCATCGCTGAGAAACACGGCTTCAGGGACCTGCGG CAGTTCATCGACGAGTATGTGAATCCTGGAGCCCCACTCTGCACTGGCCAACCCACAGAGTGCCACAGAGACAGCCTCCAGTGAGCAGTA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PIK3AP1_ENST00000371110_chr10_98408416_-_AVPI1_ENST00000370626_chr10_99437782_-_1438nt ATAATGCTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCTCCCGACTCGGCTTCCCAAAGCACTTGGATTACAGATTCTGGCT GTGACTCAGTCACTGACACTGAGCCTGAGGACGAGAAGGTTGTTTCCTACTCGAAGCAGCAGAACCTGCCGACGGTGACTTCACCTGGGA ACCTGATGGTGGTGCAGCCGGACCGCATTCGCTGTGGGGCAGAAACCACTGTCTATGTTATTGTGAGATGTAAGCTGGATGACAGGGTGG CGACAGAAGCAGAGTTTTCTCCTGAGGATTCTCCCTCTGTAAGGATGGAAGCCAAGGTGGAGAATGAGTACACCATTTCAGTGAAGGCTC CCAACCTTTCATCTGGGAACGTTTCTCTGAAGATATATTCTGGAGACTTAGTGGTGTGTGAAACCGTTATCAGCTATTATACTGACATGG AAGAAATTGGGAATTTATTGTCCAATGCCGCGAATCCTGTGGAATTCATGTGTCAGGCCTTTAAAATTGTGCCCTACAACACAGAGACCC TTGATAAACTGCTAACCGAATCCCTGAAGAACAATATCCCTGCAAGCGGACTGCACCTCTTTGGAATCAACCAGCTGGAAGAAGAAGATA TGATGACAAATCAGAGGGATGAAGAGCTGCCCACCCTGTTGCATTTTGCTGCGAAGTATGGACTGAAGAACCTCACTGCCTTGTTGCTCA CCTGCCCAGGAGCCCTGCAGGCGTACAGCGTGGCCAACAAGCATGGCCACTACCCCAACACCATCGCTGAGAAACACGGCTTCAGGGACC TGCGGCAGTTCATCGACGAGTATGTGAATCCTGGAGCCCCACTCTGCACTGGCCAACCCACAGAGTGCCACAGAGACAGCCTCCAGTGAG CAGTATCTGCACTCTAGGAAGAAAAGTGCCAGGATCCGCCGGAACTGGAGGAAGTCAGGCCCCACAAGCTACCTCCACCAGATCAGACAC TGATCCAGGGAAAGAGCCAGGAATGGCAGTGTCTTCCCTCTTGCCAAAAGGCCTGGGGAGGTGAAGGAAGAGAGACTTTAGGCAAGCAGC CCAAAGGGGTAAATGAAAGCAAGAGGCTGCTGCCACTGACCTGCTCCATTCAGAACAAGACTGGATGCTTCTGTTGAGCTCTCCATTATG TGGGACCCATTCCTCACCAAAATGAGGAGAGACAGTGACTGTTCCTGCCACAGTCCTTCCCAGTCTAACACTATTCCTGGGCTGCATGAT ATTCCCCTGGGAGCAAAGTGACAGGCACTTAGATGCAGCATTTCACCACTCATGCTACTAATCATCTACCTGCTACTACTGTAAACCATG |
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FusionGenePPI for PIK3AP1_AVPI1 |
| 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 |
| PIK3AP1 | ITSN1, ITSN2, GRB2, NCK2, WNT7A | AVPI1 | IKBKG, APP, MDFI, KRT40, KRTAP12-2, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-3, XPO1 |
| - 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 PIK3AP1_AVPI1 |
| 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 PIK3AP1_AVPI1 |
| 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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