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Fusion gene ID: 33770 |
FusionGeneSummary for SHC3_PTPLAD2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SHC3_PTPLAD2 | Fusion gene ID: 33770 | Hgene | Tgene | Gene symbol | SHC3 | PTPLAD2 | Gene ID | 53358 | 401494 |
Gene name | SHC adaptor protein 3 | 3-hydroxyacyl-CoA dehydratase 4 | |
Synonyms | N-Shc|NSHC|RAI|SHCC | PTPLAD2 | |
Cytomap | 9q22.1 | 9p21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | SHC-transforming protein 3SH2 domain protein C3SHC (Src homology 2 domain containing) transforming protein 3SHC-transforming protein CShc3 p51neuronal Shcprotein Raisrc homology 2 domain-containing transforming protein C3 | very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4protein tyrosine phosphatase-like A domain containing 2protein tyrosine phosphatase-like protein PTPLAD2protein-tyrosine phosphatase-like A domain-containing protein 2very-long-chain (3R)-3-hydroxyac | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q92529 | ||
Ensembl transtripts involved in fusion gene | ENST00000375835, ENST00000375830, ENST00000375831, | ENST00000513293, ENST00000495827, ENST00000488436, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 1 X 2=6 |
# samples | 2 | 3 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/6*10)=2.32192809488736 | |
Context | PubMed: SHC3 [Title/Abstract] AND PTPLAD2 [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 | PTPLAD2 | GO:0030497 | fatty acid elongation | 18554506 |
Tgene | PTPLAD2 | GO:0042761 | very long-chain fatty acid biosynthetic process | 18554506 |
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 | LGG | TCGA-E1-A7YI-01A | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
* 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 |
In-frame | ENST00000375835 | ENST00000513293 | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
Frame-shift | ENST00000375835 | ENST00000495827 | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
5CDS-intron | ENST00000375835 | ENST00000488436 | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
5UTR-3CDS | ENST00000375830 | ENST00000513293 | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
5UTR-3CDS | ENST00000375830 | ENST00000495827 | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
5UTR-intron | ENST00000375830 | ENST00000488436 | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
intron-3CDS | ENST00000375831 | ENST00000513293 | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
intron-3CDS | ENST00000375831 | ENST00000495827 | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
intron-intron | ENST00000375831 | ENST00000488436 | SHC3 | chr9 | 91792902 | - | PTPLAD2 | chr9 | 21029397 | - |
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FusionProtFeatures for SHC3_PTPLAD2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SHC3 | PTPLAD2 |
Signaling adapter that couples activated growth factorreceptors to signaling pathway in neurons. Involved in the signaltransduction pathways of neurotrophin-activated Trk receptors incortical neurons. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
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 |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 228_231 | 12 | 233 | Compositional bias | Note=Poly-Lys |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 228_231 | 12 | 635 | Compositional bias | Note=Poly-Lys |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 134_135 | 12 | 233 | Topological domain | Lumenal |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 157_157 | 12 | 233 | Topological domain | Cytoplasmic |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 179_189 | 12 | 233 | Topological domain | Lumenal |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 211_232 | 12 | 233 | Topological domain | Cytoplasmic |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 41_56 | 12 | 233 | Topological domain | Lumenal |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 78_112 | 12 | 233 | Topological domain | Cytoplasmic |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 134_135 | 12 | 635 | Topological domain | Lumenal |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 157_157 | 12 | 635 | Topological domain | Cytoplasmic |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 179_189 | 12 | 635 | Topological domain | Lumenal |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 211_232 | 12 | 635 | Topological domain | Cytoplasmic |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 41_56 | 12 | 635 | Topological domain | Lumenal |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 78_112 | 12 | 635 | Topological domain | Cytoplasmic |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 113_133 | 12 | 233 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 136_156 | 12 | 233 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 158_178 | 12 | 233 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 190_210 | 12 | 233 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 20_40 | 12 | 233 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 57_77 | 12 | 233 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 113_133 | 12 | 635 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 136_156 | 12 | 635 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 158_178 | 12 | 635 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 190_210 | 12 | 635 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 20_40 | 12 | 635 | Transmembrane | Helical |
Tgene | >PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 57_77 | 12 | 635 | Transmembrane | Helical |
- 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 | >SHC3 | chr9:91792902 | chr9:21029397 | ENST00000375835 | - | 1 | 12 | 149_334 | 158 | 595 | Domain | PID |
Hgene | >SHC3 | chr9:91792902 | chr9:21029397 | ENST00000375835 | - | 1 | 12 | 499_590 | 158 | 595 | Domain | SH2 |
Hgene | >SHC3 | chr9:91792902 | chr9:21029397 | ENST00000375835 | - | 1 | 12 | 335_498 | 158 | 595 | Region | Note=CH1 |
Tgene | PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000495827 | - | 0 | 7 | 1_19 | 12 | 233 | Topological domain | Cytoplasmic |
Tgene | PTPLAD2 | chr9:91792902 | chr9:21029397 | ENST00000513293 | - | 0 | 9 | 1_19 | 12 | 635 | Topological domain | Cytoplasmic |
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FusionGeneSequence for SHC3_PTPLAD2 |
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_SHC3_ENST00000375835_chr9_91792902_-_PTPLAD2_ENST00000513293_chr9_21029397_-_158aa MLPRTKYNRFRNDSVTSVDDLLHSLSVSGGGGKVSAARATPAAAPYLVSGEALRKAPDDGPGSLGHLLHKVSHLKLSSSGLRGLSSAARE |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_SHC3_ENST00000375835_chr9_91792902_-_PTPLAD2_ENST00000513293_chr9_21029397_-_474nt ATGCTTCCACGCACCAAGTATAACCGCTTCAGGAATGACTCGGTGACATCGGTCGATGACCTTCTCCACAGCCTGTCGGTGAGCGGCGGC GGAGGCAAGGTTTCGGCGGCGCGCGCGACCCCGGCGGCGGCTCCCTACTTGGTGTCCGGCGAGGCGCTGCGCAAGGCGCCCGACGATGGG CCCGGCAGCCTGGGCCACCTGCTCCACAAGGTGTCCCACCTGAAACTCTCCAGCTCGGGCCTCCGCGGCCTGTCGTCGGCCGCCCGGGAG CGGGCGGGCGCGCGGCTCTCGGGCAGCTGCAGCGCGCCCAGCCTGGCCGCCCCGGACGGCAGTGCGCCCTCGGCGCCCCGCGCCCCGGCC ATGAGCGCCGCCAGGAAGGGCCGGCCCGGCGACGAGCCGCTGCCCAGGCCCCCTCGGGGGGCGCCGCACGCCAGCGACCAGGTGCTGGGG |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_SHC3_ENST00000375835_chr9_91792902_-_PTPLAD2_ENST00000513293_chr9_21029397_-_2855nt TGCTTTTGCTGTGAGCAGCCCCAAGCAGCTGGGCGCTCCATCAGAGGCAACTATGACTTTTGCAAAGCAAACGTGCAACCCCAAGCAGCG GTCTCCCGGGCCGGGGCTGCGCGGCCGCCGCTGTGCTGGCTTTTAACGGTGGGAGGGCACCATCCTCTTGCTCTGCTCTCGTTCTCCAGA AGGCTGTCCCGGGGCCCCCACTCTCCGTCCCGCTCCGGGGACAGTGGCTCGCCTGCTATGCGCGGCAGCCCGCGCCGGGGCCGGCACCAG CAGCGCCCGGGCGGATGCAGCGAGCCCACGGAGGGGCATGCTTCCACGCACCAAGTATAACCGCTTCAGGAATGACTCGGTGACATCGGT CGATGACCTTCTCCACAGCCTGTCGGTGAGCGGCGGCGGAGGCAAGGTTTCGGCGGCGCGCGCGACCCCGGCGGCGGCTCCCTACTTGGT GTCCGGCGAGGCGCTGCGCAAGGCGCCCGACGATGGGCCCGGCAGCCTGGGCCACCTGCTCCACAAGGTGTCCCACCTGAAACTCTCCAG CTCGGGCCTCCGCGGCCTGTCGTCGGCCGCCCGGGAGCGGGCGGGCGCGCGGCTCTCGGGCAGCTGCAGCGCGCCCAGCCTGGCCGCCCC GGACGGCAGTGCGCCCTCGGCGCCCCGCGCCCCGGCCATGAGCGCCGCCAGGAAGGGCCGGCCCGGCGACGAGCCGCTGCCCAGGCCCCC TCGGGGGGCGCCGCACGCCAGCGACCAGGTGCTGGGGCCCGGAGTCACCTACGTGGTCAAGGTATAGGAAGAATGCGTATCTTTTCATCT ATTACTTAATCCAGTTCTGTGGCCACTCTTGGATATTTACAAATATGACAGTCAGATTCTTTTCATTTGGAAAAGATTCAATGGTTGACA CTTTTTATGCTATTGGACTTGTGATGCGACTTTGCCAATCCGTATCTCTCCTGGAACTGCTGCACATATATGTTGGCATTGAGTCAAACC ATCTTCTCCCAAGGTTTTTGCAGCTCACAGAAAGAATAATCATCCTTTTTGTGGTGATCACCAGTCAAGAGGAAGTCCAAGAGAAATATG TGGTGTGTGTTTTATTCGTCTTTTGGAATCTATTGGATATGGTTAGGTACACTTATAGCATGTTATCAGTCATAGGAATATCCTATGCTG TCTTGACATGGCTCAGTCAAACACTATGGATGCCAATTTATCCTTTGTGTGTTCTTGCTGAAGCATTTGCCATCTATCAATCGCTGCCTT ATTTTGAATCATTTGGCACTTATTCCACCAAGCTGCCCTTTGACTTATCCATCTATTTCCCATATGTGCTGAAAATATATCTCATGATGC TCTTTATAGGTATGTATTTTACCTACAGTCATCTATACTCAGAAAGAAGAGACATCCTCGGAATCTTTCCCATTAAAAAAAAGAAGATGT GAAGTACAGCATTCCAGTGTGACACGAGAAAAGACAGGCTGTGGATTCAGTGCAGTAAATAAAACACAGGAAGTATTCTGGTGGAAAAAT ACCTTGTATTTGATAAAAATCCATTACATGAAATAACTGCACATACCCCCAAAACTCTAGACATAACAGGCTATGTTTTTCACACATTGT ATTTTTAAGACATATATATTCTCCATACCCTGCTTCACCAAAATTCCTGCTTCATTTGGATTTTATACAAGTTATACTTACATTGTATGA AGTCTGATTATTTTCCTGTAAGTTTAATGAGAAATAGGAGATTAGCTGCAATAGATTCAATTAAATTAAGAAACCAAACTTGATAACCTA AATTACATGTATTCTTTTTCACTTCCAAGTTCCCAAATAGATCTGTAGGAGAAGAGGGATGGAAAATATATTCCACAGTTGCCTAGAATA ACATATTTCATAGACAGATGTCTGTCTTCAGATCTAATAATACTCACCCTAAACATTAGATATGTTTAGAAAATTAAATATCTTTCCAAG CCCTATGTCTTAGCTCAGGTTGCTATAATAGAACACCATAAACCGAATGGCTTAAACAACAGCAAACGCTTCTCACAGTTCTGGAGGCTG GGAATTCCGCTCAGGATCAAGGCATCAGCTAATGCAGTTTCTGGACCCAGTGAGGCAGAGGTATTGCCCCCAGGACTATGTTGGAGGAGG ATGACCCCCATATCACCAGGCGGAAGCTGTCAGGCCTGTTGAAACCAAGGCAATGACTGCCCCTTTTGAAACTGAGAAGCAGGGAGAAGA TAATATCTTCAAGCTTTCACAAAGAAAATCTCCACATTGAACTCAAGCCAAATAAAGAAAATCCAAGTTCCTGTTTCAGTCTCAACTGGC CCGGGTACTAAAGCAATGCACTCCTCTCTTAGGAGGCATGTGTCAAGCTGTCAGTGATGTGGCCATCTTTTCATGACCCTTAACTCTCTG CATCATGTCTCAGCAATACCAGGCATGAATTCTGAAAAACTTCTTCCACTTATATGGTTTTCCTCATCCAGCTGAGAATGCTGCTGGTTA CTGCAAAACTGTTCACCAACCATATGCTCTGGTCCATACAGCTTTCTTCTTAAACTCTGGGAGAACTCTCAAGGACAGCAGGGTGGCTAA GGGGACAAAATATAGGTATGGCTGCATTTGAAAAGGTCATTTTGATCAAAAAGGTGTCAGAACAGAATTTGTCTTTTTCTCACTTGGCTA ATGTTCAAGACTAGGGAGTTCCATCGATATTTTGGCAGGATTTTAATGGCAGAAAACCATTTATAAATGTTGGGGGGAAAGTTGTTTTTT |
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FusionGenePPI for SHC3_PTPLAD2 |
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 |
SHC3 | ARHGAP32, ALK, EGFR, NTRK1, NTRK2, SH3GL3, ERBB2, ERBB3, GOLGA2, KRT31, KRT40, SHC4 | PTPLAD2 |
- 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 SHC3_PTPLAD2 |
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 SHC3_PTPLAD2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |