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Fusion gene ID: 33672 |
FusionGeneSummary for SH3KBP1_SLC44A3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SH3KBP1_SLC44A3 | Fusion gene ID: 33672 | Hgene | Tgene | Gene symbol | SH3KBP1 | SLC44A3 | Gene ID | 30011 | 126969 |
| Gene name | SH3 domain containing kinase binding protein 1 | solute carrier family 44 member 3 | |
| Synonyms | CD2BP3|CIN85|GIG10|HSB-1|HSB1|MIG18 | CTL3 | |
| Cytomap | Xp22.12 | 1p21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SH3 domain-containing kinase-binding protein 1CD2-binding protein 3SH3-domain kinase binding protein 1Src family kinase-binding protein 1c-Cbl-interacting proteincbl-interacting protein of 85 kDahuman Src family kinase-binding protein 1migration-in | choline transporter-like protein 3 | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q96B97 | Q8N4M1 | |
| Ensembl transtripts involved in fusion gene | ENST00000397821, ENST00000379716, ENST00000379698, ENST00000541422, ENST00000379697, ENST00000477102, | ENST00000446120, ENST00000271227, ENST00000527077, ENST00000529450, ENST00000467909, ENST00000532427, ENST00000530397, | |
| Fusion gene scores | * DoF score | 8 X 7 X 4=224 | 2 X 2 X 2=8 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SH3KBP1 [Title/Abstract] AND SLC44A3 [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 |
| ChiTaRS3.1 | AA102165 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| * 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 |
| intron-intron | ENST00000397821 | ENST00000446120 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000397821 | ENST00000271227 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000397821 | ENST00000527077 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000397821 | ENST00000529450 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000397821 | ENST00000467909 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000397821 | ENST00000532427 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000397821 | ENST00000530397 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379716 | ENST00000446120 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379716 | ENST00000271227 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379716 | ENST00000527077 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379716 | ENST00000529450 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379716 | ENST00000467909 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379716 | ENST00000532427 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379716 | ENST00000530397 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379698 | ENST00000446120 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379698 | ENST00000271227 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379698 | ENST00000527077 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379698 | ENST00000529450 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379698 | ENST00000467909 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379698 | ENST00000532427 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379698 | ENST00000530397 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000541422 | ENST00000446120 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000541422 | ENST00000271227 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000541422 | ENST00000527077 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000541422 | ENST00000529450 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000541422 | ENST00000467909 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000541422 | ENST00000532427 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000541422 | ENST00000530397 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379697 | ENST00000446120 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379697 | ENST00000271227 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379697 | ENST00000527077 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379697 | ENST00000529450 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379697 | ENST00000467909 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379697 | ENST00000532427 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000379697 | ENST00000530397 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000477102 | ENST00000446120 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000477102 | ENST00000271227 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000477102 | ENST00000527077 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000477102 | ENST00000529450 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000477102 | ENST00000467909 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000477102 | ENST00000532427 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
| intron-intron | ENST00000477102 | ENST00000530397 | SH3KBP1 | chrX | 19831479 | - | SLC44A3 | chr1 | 95357470 | + |
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FusionProtFeatures for SH3KBP1_SLC44A3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SH3KBP1 | SLC44A3 |
| Adapter protein involved in regulating diverse signaltransduction pathways. Involved in the regulation of endocytosisand lysosomal degradation of ligand-induced receptor tyrosinekinases, including EGFR and MET/hepatocyte growth factor receptor,through an association with CBL and endophilins. The associationwith CBL, and thus the receptor internalization, may inhibited byan interaction with PDCD6IP and/or SPRY2. Involved in regulationof ligand-dependent endocytosis of the IgE receptor. Attenuatesphosphatidylinositol 3-kinase activity by interaction with itsregulatory subunit (By similarity). May be involved in regulationof cell adhesion; promotes the interaction between TTK2B andPDCD6IP. May be involved in the regulation of cellular stressresponse via the MAPK pathways through its interaction withMAP3K4. Is involved in modulation of tumor necrosis factormediated apoptosis. Plays a role in the regulation of cellmorphology and cytoskeletal organization. Required in the controlof cell shape and migration. {ECO:0000250,ECO:0000269|PubMed:11894095, ECO:0000269|PubMed:11894096,ECO:0000269|PubMed:12177062, ECO:0000269|PubMed:12734385,ECO:0000269|PubMed:12771190, ECO:0000269|PubMed:15090612,ECO:0000269|PubMed:15707590, ECO:0000269|PubMed:16177060,ECO:0000269|PubMed:16256071, ECO:0000269|PubMed:21834987}. |
| 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 SH3KBP1_SLC44A3 |
| 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 SH3KBP1_SLC44A3 |
| 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 SH3KBP1_SLC44A3 |
| 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 SH3KBP1_SLC44A3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SH3KBP1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
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