|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 25837 |
FusionGeneSummary for PAK3_SH2D1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PAK3_SH2D1A | Fusion gene ID: 25837 | Hgene | Tgene | Gene symbol | PAK3 | SH2D1A | Gene ID | 8874 | 4068 |
| Gene name | Rho guanine nucleotide exchange factor 7 | SH2 domain containing 1A | |
| Synonyms | BETA-PIX|COOL-1|COOL1|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXB | DSHP|EBVS|IMD5|LYP|MTCP1|SAP|SAP/SH2D1A|XLP|XLPD|XLPD1 | |
| Cytomap | 13q34 | Xq25 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich protein | SH2 domain-containing protein 1ADuncan disease SH2-proteinSLAM associated protein/SH2 domain protein 1ASLAM-associated proteinT cell signal transduction molecule SAPsignaling lymphocyte activation molecule-associated proteinsignaling lymphocytic act | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | O75914 | O60880 | |
| Ensembl transtripts involved in fusion gene | ENST00000425146, ENST00000446737, ENST00000372010, ENST00000519681, ENST00000372007, ENST00000518291, ENST00000484442, ENST00000262836, ENST00000360648, ENST00000417227, | ENST00000371139, ENST00000360027, ENST00000491950, ENST00000477673, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PAK3 [Title/Abstract] AND SH2D1A [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 | PAK3 | GO:0043547 | positive regulation of GTPase activity | 21048939 |
| Tgene | SH2D1A | GO:0007267 | cell-cell signaling | 9774102 |
| 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 | CESC | TCGA-IR-A3LB-01A | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| * 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 | ENST00000425146 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000425146 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000425146 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000425146 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000446737 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000446737 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000446737 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000446737 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000372010 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000372010 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000372010 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000372010 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000519681 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000519681 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000519681 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000519681 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000372007 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000372007 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000372007 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000372007 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000518291 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000518291 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000518291 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000518291 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| intron-3CDS | ENST00000484442 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| intron-3CDS | ENST00000484442 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| intron-intron | ENST00000484442 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| intron-intron | ENST00000484442 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000262836 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000262836 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000262836 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000262836 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000360648 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000360648 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000360648 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000360648 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000417227 | ENST00000371139 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| Frame-shift | ENST00000417227 | ENST00000360027 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000417227 | ENST00000491950 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
| 5CDS-intron | ENST00000417227 | ENST00000477673 | PAK3 | chrX | 110366506 | + | SH2D1A | chrX | 123499611 | + |
Top |
FusionProtFeatures for PAK3_SH2D1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PAK3 | SH2D1A |
| Cytoplasmic adapter regulating receptors of thesignaling lymphocytic activation molecule (SLAM) family such asSLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signalingseems to cooperate with SH2D1B/EAT-2. Initially it has beenproposed that association with SLAMF1 prevents SLAMF1 binding toinhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2(PubMed:11806999). However, by simultaneous interactions, recruitsFYN which subsequently phosphorylates and activates SLAMF1(PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promoteCD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. Inthe context of NK cell-mediated cytotoxicity enhances conjugateformation with target cells (By similarity). May also regulate theactivity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.{ECO:0000250|UniProtKB:O88890, ECO:0000269|PubMed:11806999,ECO:0000269|PubMed:12458214, ECO:0000305|PubMed:21219180}. |
| 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 PAK3_SH2D1A |
| 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 PAK3_SH2D1A |
| 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 |
| PAK3 | RAC1, ARHGEF7, SNCA, CDC42, ITSN1, PAK3, ABCE1, SNRNP27, MAPK14 | SH2D1A | SLAMF1, CD84, FYN, LY9, DOK1, CD244, SLAMF6, ELAVL1, MAPK11, MAPK14, EGFR, ERBB3, LYN, TNK2, LHX4, PTK2, ZNHIT1, ATF3, NCK1, CCDC74A, LETMD1, NGEF, OLIG1, VCP |
| - 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 PAK3_SH2D1A |
| 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 PAK3_SH2D1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PAK3 | C0796237 | Mental Retardation, X-Linked 30 | 2 | CTD_human;UNIPROT |
| Tgene | SH2D1A | C0549463 | X-Linked Lymphoproliferative Disorder | 6 | ORPHANET;UNIPROT |
| Tgene | SH2D1A | C0024314 | Lymphoproliferative Disorders | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|