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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:PIP5K1A-VPS45 (FusionGDB2 ID:65105) |
Fusion Gene Summary for PIP5K1A-VPS45 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PIP5K1A-VPS45 | Fusion gene ID: 65105 | Hgene | Tgene | Gene symbol | PIP5K1A | VPS45 | Gene ID | 8394 | 11311 |
Gene name | phosphatidylinositol-4-phosphate 5-kinase type 1 alpha | vacuolar protein sorting 45 homolog | |
Synonyms | - | H1|H1VPS45|SCN5|VPS45A|VPS45B|VPS54A|VSP45|VSP45A | |
Cytomap | 1q21.3 | 1q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | phosphatidylinositol 4-phosphate 5-kinase type-1 alpha68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alphaPIP5K1-alphaPIP5KIalphaphosphatidylinositol 4-phosphate 5-kinase type I alphaptdIns(4)P-5-kinase 1 alpha | vacuolar protein sorting-associated protein 45leucocyte vacuolar protein sorting 45vacuolar protein sorting 45A | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000409426, ENST00000441902, ENST00000368890, ENST00000368888, ENST00000464105, ENST00000414290, | ENST00000369130, ENST00000369128, ENST00000535106, ENST00000484306, | |
Fusion gene scores | * DoF score | 10 X 6 X 7=420 | 8 X 7 X 6=336 |
# samples | 11 | 10 | |
** MAII score | log2(11/420*10)=-1.93288580414146 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/336*10)=-1.74846123300404 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: PIP5K1A [Title/Abstract] AND VPS45 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | PIP5K1A(151211654)-VPS45(150116886), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | PIP5K1A-VPS45 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. PIP5K1A-VPS45 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. PIP5K1A-VPS45 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* 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 | PIP5K1A | GO:0008654 | phospholipid biosynthetic process | 15157668 |
Fusion gene breakpoints across PIP5K1A (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across VPS45 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | OV | TCGA-30-1857 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
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Fusion Gene ORF analysis for PIP5K1A-VPS45 |
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 |
In-frame | ENST00000409426 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
Frame-shift | ENST00000409426 | ENST00000369128 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000409426 | ENST00000535106 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000409426 | ENST00000484306 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
In-frame | ENST00000441902 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
Frame-shift | ENST00000441902 | ENST00000369128 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000441902 | ENST00000535106 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000441902 | ENST00000484306 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
In-frame | ENST00000368890 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
Frame-shift | ENST00000368890 | ENST00000369128 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000368890 | ENST00000535106 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000368890 | ENST00000484306 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
In-frame | ENST00000368888 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
Frame-shift | ENST00000368888 | ENST00000369128 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000368888 | ENST00000535106 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000368888 | ENST00000484306 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
intron-3CDS | ENST00000464105 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
intron-3CDS | ENST00000464105 | ENST00000369128 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
intron-3UTR | ENST00000464105 | ENST00000535106 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
intron-3UTR | ENST00000464105 | ENST00000484306 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
In-frame | ENST00000414290 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
Frame-shift | ENST00000414290 | ENST00000369128 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000414290 | ENST00000535106 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
5CDS-3UTR | ENST00000414290 | ENST00000484306 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000409426 | PIP5K1A | chr1 | 151211654 | + | ENST00000369130 | VPS45 | chr1 | 150116886 | + | 2306 | 1687 | 403 | 1899 | 498 |
ENST00000441902 | PIP5K1A | chr1 | 151211654 | + | ENST00000369130 | VPS45 | chr1 | 150116886 | + | 2221 | 1602 | 402 | 1814 | 470 |
ENST00000368890 | PIP5K1A | chr1 | 151211654 | + | ENST00000369130 | VPS45 | chr1 | 150116886 | + | 2302 | 1683 | 402 | 1895 | 497 |
ENST00000368888 | PIP5K1A | chr1 | 151211654 | + | ENST00000369130 | VPS45 | chr1 | 150116886 | + | 2319 | 1700 | 380 | 1912 | 510 |
ENST00000414290 | PIP5K1A | chr1 | 151211654 | + | ENST00000369130 | VPS45 | chr1 | 150116886 | + | 1010 | 391 | 10 | 603 | 197 |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000409426 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + | 0.00079955 | 0.9992005 |
ENST00000441902 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + | 0.001061228 | 0.99893874 |
ENST00000368890 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + | 0.000962661 | 0.9990374 |
ENST00000368888 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + | 0.000754984 | 0.99924505 |
ENST00000414290 | ENST00000369130 | PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + | 0.02137738 | 0.9786226 |
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Fusion Genomic Features for PIP5K1A-VPS45 |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + | 0.103008784 | 0.8969912 |
PIP5K1A | chr1 | 151211654 | + | VPS45 | chr1 | 150116886 | + | 0.103008784 | 0.8969912 |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for PIP5K1A-VPS45 |
Go to FGviewer for the breakpoints of chr1:151211654-chr1:150116886 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
. | . |
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
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 |
Hgene | PIP5K1A | chr1:151211654 | chr1:150116886 | ENST00000368888 | + | 11 | 16 | 81_449 | 426.0 | 563.0 | Domain | PIPK |
Hgene | PIP5K1A | chr1:151211654 | chr1:150116886 | ENST00000368890 | + | 10 | 14 | 81_449 | 413.0 | 501.0 | Domain | PIPK |
Hgene | PIP5K1A | chr1:151211654 | chr1:150116886 | ENST00000441902 | + | 9 | 14 | 81_449 | 386.0 | 523.0 | Domain | PIPK |
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Fusion Gene Sequence for PIP5K1A-VPS45 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>In-frame_ENST00000409426_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(transcript)=2306nt_BP=1687nt GATTTTTTGCTTGGCTACCCGGAGTGAAGCGGCCGGGTTGGGCGATTAACAGGCCGTGGTTAGGAAGGACGGAGAAGGGGCGTTCGCTCC TTTGGGACTTTTCATGCCTCGTTTTTTTTTCAGATGTGGCTTGGTCTGGGCGCAAGGTCCCAGCAGCCAGCTTAAGCTTACTCTTCTGTG AAAGGGGAAAGTATCCCCTGTGGAAAGCGGTTAAACTTGTGGAGGGGGTGCGGGACGTGAGTTCTTCCCCATGCCAGGCGAATGGTGTGG CCTTGAGCTGGTCCAGGAGCCGGCTCGACGTGTCTGAGGGAGGCCCCGGAGGGGGCGGGGAGGTGGCCCACAGAACGCGGGTTCTGTAAA GAGACGTTGGGAAGATTCGATTCCGAGAAGAGGAAGAACCGGATTGAAAGAGAGCCAGGCCGCTGAGGGGGAGGGGGCTGCTAAGATGGC GTCGGCCTCCTCCGGGCCGTCGTCTTCGGTCGGTTTTTCATCCTTTGATCCCGCGGTCCCTTCCTGTACCTTGTCCTCAGCAGCATCTGG AATCAAGAGACCCATGGCATCTGAGGTGCCTTATGCCTCTGGCATGCCCATCAAGAAAATAGGCCATAGAAGTGTTGATTCCTCAGGAGA GACAACATATAAAAAGACAACCTCATCAGCCTTGAAAGGTGCCATCCAGTTAGGCATTACCCACACTGTGGGGAGCCTGAGTACCAAACC AGAGCGTGATGTCCTCATGCAAGATTTCTACGTGGTTGAGAGTATCTTCTTTCCCAGTGAAGGGAGCAACCTGACCCCTGCTCATCACTA CAATGACTTTCGTTTCAAGACCTATGCACCTGTTGCCTTCCGCTACTTCCGGGAGCTATTTGGTATCCGGCCCGATGATTACTTGTATTC CCTCTGCAGTGAGCCGCTGATTGAACTCTGTAGCTCTGGAGCTAGTGGTTCCCTATTCTATGTGTCCAGCGACGATGAGTTCATTATTAA GACAGTCCAACATAAAGAGGCGGAATTTCTGCAGAAGCTGCTTCCAGGATACTACATGAACCTCAACCAGAACCCTCGGACTTTGCTGCC TAAATTCTATGGACTGTACTGTGTGCAGGCAGGTGGCAAGAACATTCGGATTGTGGTGATGAACAATCTTTTACCAAGATCGGTAAAAAT GCATATCAAATATGACCTCAAAGGCTCAACCTACAAACGGCGGGCTTCCCAGAAAGAGCGAGAGAAGCCTCTTCCCACATTTAAAGACCT AGACTTCTTACAAGACATCCCTGATGGTCTTTTTTTGGATGCTGACATGTACAACGCTCTCTGTAAGACCCTGCAGCGTGACTGTTTGGT GCTGCAGAGCTTCAAGATAATGGATTACAGCCTCTTGATGTCAATCCATAATATAGATCATGCACAACGAGAGCCCTTAAGCAGTGAAAC ACAGTACTCAGTTGATACTCGAAGACCGGCCCCCCAAAAGGCTCTGTATTCCACAGCCATGGAATCCATCCAGGGAGAGGCTCGACGGGG TGGTACCATGGAGACTGATGACCATATGGGTGGCATCCCTGCCCGGAATAGTAAAGGGGAAAGGCTTCTGCTTTATATTGGCATCATTGA CATTCTACAGTCTTACAGGTTTGTTAAGAAGTTGGAGCACTCTTGGAAAGCCCTGGTACATGACGGATTTCCTAGAGGAAGTTCTGGCTT CTGGACTGCACAGCCGAAGCAAGGAGAGCTCTCAAGTCACATCAAGGTCAGCGAGCAGAAGATGAAACGGTGGTTGGGGGAAGGGCACAG CTTCCTCTCTTGTCCCCACTACAGGTTTTCCCTACTAAACAAAGGTGTTGGAGAGCAGCTTTGGGTTCTGTGCTGGTTGTTAGAACTCAT CTCCAGGTAGCCCACGGATACGTGGTTGGCACAGACACAAGACTCCCAGAGTTGTCCTAACAATAAGTCTGAGCCCATCTCAACCCACTT TTCTCCGGTAGTCTTTATGTATCTGTTAGCACAATCACTTCAGTTACTGATGAATTTTGTTGGGATCTGACTTGGGGAAAGGGTTATCAG AGCCTAGAGGGGCTTAAAAAGTAATCATTTGATGTACATACCACACTCCTTGGCTTCCTTTCTCTTCCCTTAACCCTTTCTGCTTTTCAT TAACCACATTCCTGCACAACTCATTTCTGAAAACCTACCATGTTTCTTTACAGAGCCATCCAAAAATTTTTTGTCCCTACATAGCAATTT >In-frame_ENST00000409426_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(amino acids)=498AA_start in transcript=403_stop in transcript=1899 MKESQAAEGEGAAKMASASSGPSSSVGFSSFDPAVPSCTLSSAASGIKRPMASEVPYASGMPIKKIGHRSVDSSGETTYKKTTSSALKGA IQLGITHTVGSLSTKPERDVLMQDFYVVESIFFPSEGSNLTPAHHYNDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCSEPLIELCSSGA SGSLFYVSSDDEFIIKTVQHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQAGGKNIRIVVMNNLLPRSVKMHIKYDLKGSTYKRR ASQKEREKPLPTFKDLDFLQDIPDGLFLDADMYNALCKTLQRDCLVLQSFKIMDYSLLMSIHNIDHAQREPLSSETQYSVDTRRPAPQKA LYSTAMESIQGEARRGGTMETDDHMGGIPARNSKGERLLLYIGIIDILQSYRFVKKLEHSWKALVHDGFPRGSSGFWTAQPKQGELSSHI -------------------------------------------------------------- >In-frame_ENST00000441902_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(transcript)=2221nt_BP=1602nt ATTTTTTGCTTGGCTACCCGGAGTGAAGCGGCCGGGTTGGGCGATTAACAGGCCGTGGTTAGGAAGGACGGAGAAGGGGCGTTCGCTCCT TTGGGACTTTTCATGCCTCGTTTTTTTTTCAGATGTGGCTTGGTCTGGGCGCAAGGTCCCAGCAGCCAGCTTAAGCTTACTCTTCTGTGA AAGGGGAAAGTATCCCCTGTGGAAAGCGGTTAAACTTGTGGAGGGGGTGCGGGACGTGAGTTCTTCCCCATGCCAGGCGAATGGTGTGGC CTTGAGCTGGTCCAGGAGCCGGCTCGACGTGTCTGAGGGAGGCCCCGGAGGGGGCGGGGAGGTGGCCCACAGAACGCGGGTTCTGTAAAG AGACGTTGGGAAGATTCGATTCCGAGAAGAGGAAGAACCGGATTGAAAGAGAGCCAGGCCGCTGAGGGGGAGGGGGCTGCTAAGATGGCG TCGGCCTCCTCCGGGCCGTCGTCTTCGGTCGGTTTTTCATCCTTTGATCCCGCGGTCCCTTCCTGTACCTTGTCCTCAGCAGCATCTGGA ATCAAGAGACCCATGGCATCTGAGGTGCCTTATGCCTCTGGCATGCCCATCAAGAAAATAGGCCATAGAAGTGTTGATTCCTCAGGAGAG ACAACATATAAAAAGACAACCTCATCAGCCTTGAAAGGTGCCATCCAGTTAGGCATTACCCACACTGTGGGGAGCCTGAGTACCAAACCA GAGCGTGATGTCCTCATGCAAGATTTCTACGTGGTTGAGAGTATCTTCTTTCCCAGTGAAGGGAGCAACCTGACCCCTGCTCATCACTAC AATGACTTTCGTTTCAAGACCTATGCACCTGTTGCCTTCCGCTACTTCCGGGAGCTATTTGGTATCCGGCCCGATGATTACTTGTATTCC CTCTGCAGTGAGCCGCTGATTGAACTCTGTAGCTCTGGAGCTAGTGGTTCCCTATTCTATGTGTCCAGCGACGATGAGTTCATTATTAAG ACAGTCCAACATAAAGAGGCGGAATTTCTGCAGAAGCTGCTTCCAGGATACTACATGAACCTCAACCAGAACCCTCGGACTTTGCTGCCT AAATTCTATGGACTGTACTGTGTGCAGGCAGGTGGCAAGAACATTCGGATTGTGGTGATGAACAATCTTTTACCAAGATCGGTAAAAATG CATATCAAATATGACCTCAAAGGCTCAACCTACAAACGGCGGGCTTCCCAGAAAGAGCGAGAGAAGCCTCTTCCCACATTTAAAGACCTA GACTTCTTACAAGACATCCCTGATGGTCTTTTTTTGGATGCTGACATGTACAACGCTCTCTGTAAGACCCTGCAGCGTGACTGTTTGGTG CTGCAGAGCTTCAAGATAATGGATTACAGCCTCTTGATGTCAATCCATAATATAGATCATGCACAACGAGAGCCCTTAAGCAGTGAAACA CAGTACTCAGTTGATACTCGAAGACCGGCCCCCCAAAAGGCTCTGTATTCCACAGCCATGGAATCCATCCAGGGAGAGGCTCGACGGGGT GGTACCATGGAGACTGATGACCAGTTTGTTAAGAAGTTGGAGCACTCTTGGAAAGCCCTGGTACATGACGGATTTCCTAGAGGAAGTTCT GGCTTCTGGACTGCACAGCCGAAGCAAGGAGAGCTCTCAAGTCACATCAAGGTCAGCGAGCAGAAGATGAAACGGTGGTTGGGGGAAGGG CACAGCTTCCTCTCTTGTCCCCACTACAGGTTTTCCCTACTAAACAAAGGTGTTGGAGAGCAGCTTTGGGTTCTGTGCTGGTTGTTAGAA CTCATCTCCAGGTAGCCCACGGATACGTGGTTGGCACAGACACAAGACTCCCAGAGTTGTCCTAACAATAAGTCTGAGCCCATCTCAACC CACTTTTCTCCGGTAGTCTTTATGTATCTGTTAGCACAATCACTTCAGTTACTGATGAATTTTGTTGGGATCTGACTTGGGGAAAGGGTT ATCAGAGCCTAGAGGGGCTTAAAAAGTAATCATTTGATGTACATACCACACTCCTTGGCTTCCTTTCTCTTCCCTTAACCCTTTCTGCTT TTCATTAACCACATTCCTGCACAACTCATTTCTGAAAACCTACCATGTTTCTTTACAGAGCCATCCAAAAATTTTTTGTCCCTACATAGC >In-frame_ENST00000441902_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(amino acids)=470AA_start in transcript=402_stop in transcript=1814 MKESQAAEGEGAAKMASASSGPSSSVGFSSFDPAVPSCTLSSAASGIKRPMASEVPYASGMPIKKIGHRSVDSSGETTYKKTTSSALKGA IQLGITHTVGSLSTKPERDVLMQDFYVVESIFFPSEGSNLTPAHHYNDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCSEPLIELCSSGA SGSLFYVSSDDEFIIKTVQHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQAGGKNIRIVVMNNLLPRSVKMHIKYDLKGSTYKRR ASQKEREKPLPTFKDLDFLQDIPDGLFLDADMYNALCKTLQRDCLVLQSFKIMDYSLLMSIHNIDHAQREPLSSETQYSVDTRRPAPQKA LYSTAMESIQGEARRGGTMETDDQFVKKLEHSWKALVHDGFPRGSSGFWTAQPKQGELSSHIKVSEQKMKRWLGEGHSFLSCPHYRFSLL -------------------------------------------------------------- >In-frame_ENST00000368890_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(transcript)=2302nt_BP=1683nt ATTTTTTGCTTGGCTACCCGGAGTGAAGCGGCCGGGTTGGGCGATTAACAGGCCGTGGTTAGGAAGGACGGAGAAGGGGCGTTCGCTCCT TTGGGACTTTTCATGCCTCGTTTTTTTTTCAGATGTGGCTTGGTCTGGGCGCAAGGTCCCAGCAGCCAGCTTAAGCTTACTCTTCTGTGA AAGGGGAAAGTATCCCCTGTGGAAAGCGGTTAAACTTGTGGAGGGGGTGCGGGACGTGAGTTCTTCCCCATGCCAGGCGAATGGTGTGGC CTTGAGCTGGTCCAGGAGCCGGCTCGACGTGTCTGAGGGAGGCCCCGGAGGGGGCGGGGAGGTGGCCCACAGAACGCGGGTTCTGTAAAG AGACGTTGGGAAGATTCGATTCCGAGAAGAGGAAGAACCGGATTGAAAGAGAGCCAGGCCGCTGAGGGGGAGGGGGCTGCTAAGATGGCG TCGGCCTCCTCCGGGCCGTCGTCTTCGGTCGGTTTTTCATCCTTTGATCCCGCGGTCCCTTCCTGTACCTTGTCCTCAGCATCTGGAATC AAGAGACCCATGGCATCTGAGGTGCCTTATGCCTCTGGCATGCCCATCAAGAAAATAGGCCATAGAAGTGTTGATTCCTCAGGAGAGACA ACATATAAAAAGACAACCTCATCAGCCTTGAAAGGTGCCATCCAGTTAGGCATTACCCACACTGTGGGGAGCCTGAGTACCAAACCAGAG CGTGATGTCCTCATGCAAGATTTCTACGTGGTTGAGAGTATCTTCTTTCCCAGTGAAGGGAGCAACCTGACCCCTGCTCATCACTACAAT GACTTTCGTTTCAAGACCTATGCACCTGTTGCCTTCCGCTACTTCCGGGAGCTATTTGGTATCCGGCCCGATGATTACTTGTATTCCCTC TGCAGTGAGCCGCTGATTGAACTCTGTAGCTCTGGAGCTAGTGGTTCCCTATTCTATGTGTCCAGCGACGATGAGTTCATTATTAAGACA GTCCAACATAAAGAGGCGGAATTTCTGCAGAAGCTGCTTCCAGGATACTACATGAACCTCAACCAGAACCCTCGGACTTTGCTGCCTAAA TTCTATGGACTGTACTGTGTGCAGGCAGGTGGCAAGAACATTCGGATTGTGGTGATGAACAATCTTTTACCAAGATCGGTAAAAATGCAT ATCAAATATGACCTCAAAGGCTCAACCTACAAACGGCGGGCTTCCCAGAAAGAGCGAGAGAAGCCTCTTCCCACATTTAAAGACCTAGAC TTCTTACAAGACATCCCTGATGGTCTTTTTTTGGATGCTGACATGTACAACGCTCTCTGTAAGACCCTGCAGCGTGACTGTTTGGTGCTG CAGAGCTTCAAGATAATGGATTACAGCCTCTTGATGTCAATCCATAATATAGATCATGCACAACGAGAGCCCTTAAGCAGTGAAACACAG TACTCAGTTGATACTCGAAGACCGGCCCCCCAAAAGGCTCTGTATTCCACAGCCATGGAATCCATCCAGGGAGAGGCTCGACGGGGTGGT ACCATGGAGACTGATGACCATATGGGTGGCATCCCTGCCCGGAATAGTAAAGGGGAAAGGCTTCTGCTTTATATTGGCATCATTGACATT CTACAGTCTTACAGGTTTGTTAAGAAGTTGGAGCACTCTTGGAAAGCCCTGGTACATGACGGATTTCCTAGAGGAAGTTCTGGCTTCTGG ACTGCACAGCCGAAGCAAGGAGAGCTCTCAAGTCACATCAAGGTCAGCGAGCAGAAGATGAAACGGTGGTTGGGGGAAGGGCACAGCTTC CTCTCTTGTCCCCACTACAGGTTTTCCCTACTAAACAAAGGTGTTGGAGAGCAGCTTTGGGTTCTGTGCTGGTTGTTAGAACTCATCTCC AGGTAGCCCACGGATACGTGGTTGGCACAGACACAAGACTCCCAGAGTTGTCCTAACAATAAGTCTGAGCCCATCTCAACCCACTTTTCT CCGGTAGTCTTTATGTATCTGTTAGCACAATCACTTCAGTTACTGATGAATTTTGTTGGGATCTGACTTGGGGAAAGGGTTATCAGAGCC TAGAGGGGCTTAAAAAGTAATCATTTGATGTACATACCACACTCCTTGGCTTCCTTTCTCTTCCCTTAACCCTTTCTGCTTTTCATTAAC CACATTCCTGCACAACTCATTTCTGAAAACCTACCATGTTTCTTTACAGAGCCATCCAAAAATTTTTTGTCCCTACATAGCAATTTTCTG >In-frame_ENST00000368890_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(amino acids)=497AA_start in transcript=402_stop in transcript=1895 MKESQAAEGEGAAKMASASSGPSSSVGFSSFDPAVPSCTLSSASGIKRPMASEVPYASGMPIKKIGHRSVDSSGETTYKKTTSSALKGAI QLGITHTVGSLSTKPERDVLMQDFYVVESIFFPSEGSNLTPAHHYNDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCSEPLIELCSSGAS GSLFYVSSDDEFIIKTVQHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQAGGKNIRIVVMNNLLPRSVKMHIKYDLKGSTYKRRA SQKEREKPLPTFKDLDFLQDIPDGLFLDADMYNALCKTLQRDCLVLQSFKIMDYSLLMSIHNIDHAQREPLSSETQYSVDTRRPAPQKAL YSTAMESIQGEARRGGTMETDDHMGGIPARNSKGERLLLYIGIIDILQSYRFVKKLEHSWKALVHDGFPRGSSGFWTAQPKQGELSSHIK -------------------------------------------------------------- >In-frame_ENST00000368888_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(transcript)=2319nt_BP=1700nt GTGAAGCGGCCGGGTTGGGCGATTAACAGGCCGTGGTTAGGAAGGACGGAGAAGGGGCGTTCGCTCCTTTGGGACTTTTCATGCCTCGTT TTTTTTTCAGATGTGGCTTGGTCTGGGCGCAAGGTCCCAGCAGCCAGCTTAAGCTTACTCTTCTGTGAAAGGGGAAAGTATCCCCTGTGG AAAGCGGTTAAACTTGTGGAGGGGGTGCGGGACGTGAGTTCTTCCCCATGCCAGGCGAATGGTGTGGCCTTGAGCTGGTCCAGGAGCCGG CTCGACGTGTCTGAGGGAGGCCCCGGAGGGGGCGGGGAGGTGGCCCACAGAACGCGGGTTCTGTAAAGAGACGTTGGGAAGATTCGATTC CGAGAAGAGGAAGAACCGGATTGAAAGAGAGCCAGGCCGCTGAGGGGGAGGGGGCTGCTAAGATGGCGTCGGCCTCCTCCGGGCCGTCGT CTTCGGTCGGTTTTTCATCCTTTGATCCCGCGGTCCCTTCCTGTACCTTGTCCTCAGCAGCATCTGGAATCAAGAGACCCATGGCATCTG AGGTCTTGGAAGCTAGACAGGATTCTTACATCTCATTGGTGCCTTATGCCTCTGGCATGCCCATCAAGAAAATAGGCCATAGAAGTGTTG ATTCCTCAGGAGAGACAACATATAAAAAGACAACCTCATCAGCCTTGAAAGGTGCCATCCAGTTAGGCATTACCCACACTGTGGGGAGCC TGAGTACCAAACCAGAGCGTGATGTCCTCATGCAAGATTTCTACGTGGTTGAGAGTATCTTCTTTCCCAGTGAAGGGAGCAACCTGACCC CTGCTCATCACTACAATGACTTTCGTTTCAAGACCTATGCACCTGTTGCCTTCCGCTACTTCCGGGAGCTATTTGGTATCCGGCCCGATG ATTACTTGTATTCCCTCTGCAGTGAGCCGCTGATTGAACTCTGTAGCTCTGGAGCTAGTGGTTCCCTATTCTATGTGTCCAGCGACGATG AGTTCATTATTAAGACAGTCCAACATAAAGAGGCGGAATTTCTGCAGAAGCTGCTTCCAGGATACTACATGAACCTCAACCAGAACCCTC GGACTTTGCTGCCTAAATTCTATGGACTGTACTGTGTGCAGGCAGGTGGCAAGAACATTCGGATTGTGGTGATGAACAATCTTTTACCAA GATCGGTAAAAATGCATATCAAATATGACCTCAAAGGCTCAACCTACAAACGGCGGGCTTCCCAGAAAGAGCGAGAGAAGCCTCTTCCCA CATTTAAAGACCTAGACTTCTTACAAGACATCCCTGATGGTCTTTTTTTGGATGCTGACATGTACAACGCTCTCTGTAAGACCCTGCAGC GTGACTGTTTGGTGCTGCAGAGCTTCAAGATAATGGATTACAGCCTCTTGATGTCAATCCATAATATAGATCATGCACAACGAGAGCCCT TAAGCAGTGAAACACAGTACTCAGTTGATACTCGAAGACCGGCCCCCCAAAAGGCTCTGTATTCCACAGCCATGGAATCCATCCAGGGAG AGGCTCGACGGGGTGGTACCATGGAGACTGATGACCATATGGGTGGCATCCCTGCCCGGAATAGTAAAGGGGAAAGGCTTCTGCTTTATA TTGGCATCATTGACATTCTACAGTCTTACAGGTTTGTTAAGAAGTTGGAGCACTCTTGGAAAGCCCTGGTACATGACGGATTTCCTAGAG GAAGTTCTGGCTTCTGGACTGCACAGCCGAAGCAAGGAGAGCTCTCAAGTCACATCAAGGTCAGCGAGCAGAAGATGAAACGGTGGTTGG GGGAAGGGCACAGCTTCCTCTCTTGTCCCCACTACAGGTTTTCCCTACTAAACAAAGGTGTTGGAGAGCAGCTTTGGGTTCTGTGCTGGT TGTTAGAACTCATCTCCAGGTAGCCCACGGATACGTGGTTGGCACAGACACAAGACTCCCAGAGTTGTCCTAACAATAAGTCTGAGCCCA TCTCAACCCACTTTTCTCCGGTAGTCTTTATGTATCTGTTAGCACAATCACTTCAGTTACTGATGAATTTTGTTGGGATCTGACTTGGGG AAAGGGTTATCAGAGCCTAGAGGGGCTTAAAAAGTAATCATTTGATGTACATACCACACTCCTTGGCTTCCTTTCTCTTCCCTTAACCCT TTCTGCTTTTCATTAACCACATTCCTGCACAACTCATTTCTGAAAACCTACCATGTTTCTTTACAGAGCCATCCAAAAATTTTTTGTCCC >In-frame_ENST00000368888_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(amino acids)=510AA_start in transcript=380_stop in transcript=1912 MKESQAAEGEGAAKMASASSGPSSSVGFSSFDPAVPSCTLSSAASGIKRPMASEVLEARQDSYISLVPYASGMPIKKIGHRSVDSSGETT YKKTTSSALKGAIQLGITHTVGSLSTKPERDVLMQDFYVVESIFFPSEGSNLTPAHHYNDFRFKTYAPVAFRYFRELFGIRPDDYLYSLC SEPLIELCSSGASGSLFYVSSDDEFIIKTVQHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQAGGKNIRIVVMNNLLPRSVKMHI KYDLKGSTYKRRASQKEREKPLPTFKDLDFLQDIPDGLFLDADMYNALCKTLQRDCLVLQSFKIMDYSLLMSIHNIDHAQREPLSSETQY SVDTRRPAPQKALYSTAMESIQGEARRGGTMETDDHMGGIPARNSKGERLLLYIGIIDILQSYRFVKKLEHSWKALVHDGFPRGSSGFWT -------------------------------------------------------------- >In-frame_ENST00000414290_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(transcript)=1010nt_BP=391nt GGATGCTGACATGTACAACGCTCTCTGTAAGACCCTGCAGCGTGACTGTTTGGTGCTGCAGAGCTTCAAGATAATGGATTACAGCCTCTT GATGTCAATCCATAATATAGATCATGCACAACGAGAGCCCTTAAGCAGTGAAACACAGTACTCAGTTGATACTCGAAGACCGGCCCCCCA AAAGGCTCTGTATTCCACAGCCATGGAATCCATCCAGGGAGAGGCTCGACGGGGTGGTACCATGGAGACTGATGACCATATGGGTGGCAT CCCTGCCCGGAATAGTAAAGGGGAAAGGCTTCTGCTTTATATTGGCATCATTGACATTCTACAGTCTTACAGGTTTGTTAAGAAGTTGGA GCACTCTTGGAAAGCCCTGGTACATGACGGATTTCCTAGAGGAAGTTCTGGCTTCTGGACTGCACAGCCGAAGCAAGGAGAGCTCTCAAG TCACATCAAGGTCAGCGAGCAGAAGATGAAACGGTGGTTGGGGGAAGGGCACAGCTTCCTCTCTTGTCCCCACTACAGGTTTTCCCTACT AAACAAAGGTGTTGGAGAGCAGCTTTGGGTTCTGTGCTGGTTGTTAGAACTCATCTCCAGGTAGCCCACGGATACGTGGTTGGCACAGAC ACAAGACTCCCAGAGTTGTCCTAACAATAAGTCTGAGCCCATCTCAACCCACTTTTCTCCGGTAGTCTTTATGTATCTGTTAGCACAATC ACTTCAGTTACTGATGAATTTTGTTGGGATCTGACTTGGGGAAAGGGTTATCAGAGCCTAGAGGGGCTTAAAAAGTAATCATTTGATGTA CATACCACACTCCTTGGCTTCCTTTCTCTTCCCTTAACCCTTTCTGCTTTTCATTAACCACATTCCTGCACAACTCATTTCTGAAAACCT ACCATGTTTCTTTACAGAGCCATCCAAAAATTTTTTGTCCCTACATAGCAATTTTCTGTGGCACTGAGAAACCATGTATGACCACAATAA >In-frame_ENST00000414290_ENST00000369130_TCGA-30-1857_PIP5K1A_chr1_151211654_+_VPS45_chr1_150116886_length(amino acids)=197AA_start in transcript=10_stop in transcript=603 MYNALCKTLQRDCLVLQSFKIMDYSLLMSIHNIDHAQREPLSSETQYSVDTRRPAPQKALYSTAMESIQGEARRGGTMETDDHMGGIPAR NSKGERLLLYIGIIDILQSYRFVKKLEHSWKALVHDGFPRGSSGFWTAQPKQGELSSHIKVSEQKMKRWLGEGHSFLSCPHYRFSLLNKG -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for PIP5K1A-VPS45 |
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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Related Drugs for PIP5K1A-VPS45 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for PIP5K1A-VPS45 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | VPS45 | C3809031 | NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | VPS45 | C0340970 | Congenital neutropenia | 1 | CTD_human;GENOMICS_ENGLAND |
Tgene | VPS45 | C1853118 | Severe congenital neutropenia | 1 | CTD_human |
Tgene | VPS45 | C2931351 | Familial myelofibrosis | 1 | CTD_human |
Tgene | VPS45 | C4755251 | Congenital neutropenia, myelofibrosis, nephromegaly syndrome | 1 | GENOMICS_ENGLAND |