|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 2016 |
FusionGeneSummary for AP1AR_SRSF7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AP1AR_SRSF7 | Fusion gene ID: 2016 | Hgene | Tgene | Gene symbol | AP1AR | SRSF7 | Gene ID | 55435 | 6432 |
| Gene name | adaptor related protein complex 1 associated regulatory protein | serine and arginine rich splicing factor 7 | |
| Synonyms | 2C18|C4orf16|GBAR|PRO0971|gamma-BAR | 9G8|AAG3|SFRS7 | |
| Cytomap | 4q25 | 2p22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AP-1 complex-associated regulatory proteinadapter-related protein complex 1-associated regulatory proteingadkingamma-1-adaptin brefeldin A resistance proteingamma-A1-adaptin and kinesin interactorgamma1-adaptin brefeldin A resistance protein, gamma-B | serine/arginine-rich splicing factor 7SR splicing factor 7aging-associated protein 3splicing factor 9G8splicing factor, arginine/serine-rich 7, 35kDa | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q63HQ0 | Q16629 | |
| Ensembl transtripts involved in fusion gene | ENST00000274000, ENST00000309703, | ENST00000313117, ENST00000446327, ENST00000409276, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 2 X 3=18 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: AP1AR [Title/Abstract] AND SRSF7 [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 | AP1AR | GO:0048203 | vesicle targeting, trans-Golgi to endosome | 19706427 |
| Tgene | SRSF7 | GO:0008380 | RNA splicing | 8013463 |
| Tgene | SRSF7 | GO:0048025 | negative regulation of mRNA splicing, via spliceosome | 15009664 |
| 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 | AK094126 | AP1AR | chr4 | 113184184 | + | SRSF7 | chr2 | 38976683 | - |
| * 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 | ENST00000274000 | ENST00000313117 | AP1AR | chr4 | 113184184 | + | SRSF7 | chr2 | 38976683 | - |
| Frame-shift | ENST00000274000 | ENST00000446327 | AP1AR | chr4 | 113184184 | + | SRSF7 | chr2 | 38976683 | - |
| Frame-shift | ENST00000274000 | ENST00000409276 | AP1AR | chr4 | 113184184 | + | SRSF7 | chr2 | 38976683 | - |
| intron-3CDS | ENST00000309703 | ENST00000313117 | AP1AR | chr4 | 113184184 | + | SRSF7 | chr2 | 38976683 | - |
| intron-3CDS | ENST00000309703 | ENST00000446327 | AP1AR | chr4 | 113184184 | + | SRSF7 | chr2 | 38976683 | - |
| intron-3CDS | ENST00000309703 | ENST00000409276 | AP1AR | chr4 | 113184184 | + | SRSF7 | chr2 | 38976683 | - |
Top |
FusionProtFeatures for AP1AR_SRSF7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AP1AR | SRSF7 |
| Necessary for adaptor protein complex 1 (AP-1)-dependenttransport between the trans-Golgi network and endosomes. Regulatesthe membrane association of AP1G1/gamma1-adaptin, one of thesubunits of the AP-1 adaptor complex. The direct interaction withAP1G1/gamma1-adaptin attenuates the release of the AP-1 complexfrom membranes. Regulates endosomal membrane traffic viaassociation with AP-1 and KIF5B thus linking kinesin-based plus-end-directed microtubular transport to AP-1-dependent membranetraffic. May act as effector of AP-1 in calcium-induced endo-lysosome secretion. Inhibits Arp2/3 complex function; negativelyregulates cell spreading, size and motility via intracellularsequestration of the Arp2/3 complex. {ECO:0000269|PubMed:15775984,ECO:0000269|PubMed:19706427, ECO:0000269|PubMed:21525240,ECO:0000269|PubMed:22689987}. | Required for pre-mRNA splicing. Can also modulatealternative splicing in vitro. Represses the splicing of MAPT/Tauexon 10. May function as export adapter involved in mRNA nuclearexport such as of histone H2A. Binds mRNA which is thought to betransferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1pathway); enhances NXF1-NXT1 RNA-binding activity. RNA-binding issemi-sequence specific. {ECO:0000269|PubMed:11336712,ECO:0000269|PubMed:12667464, ECO:0000269|PubMed:15009664,ECO:0000269|PubMed:18364396}. |
| 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 |
Top |
FusionGeneSequence for AP1AR_SRSF7 |
| 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). |
Top |
FusionGenePPI for AP1AR_SRSF7 |
| 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 |
Top |
RelatedDrugs for AP1AR_SRSF7 |
| 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 |
Top |
RelatedDiseases for AP1AR_SRSF7 |
| 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)
|