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Fusion gene ID: 16766 |
FusionGeneSummary for HP_SAA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HP_SAA1 | Fusion gene ID: 16766 | Hgene | Tgene | Gene symbol | HP | SAA1 | Gene ID | 10395 | 6288 |
| Gene name | DLC1 Rho GTPase activating protein | serum amyloid A1 | |
| Synonyms | ARHGAP7|HP|STARD12|p122-RhoGAP | PIG4|SAA|SAA2|TP53I4 | |
| Cytomap | 8p22 | 11p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho GTPase-activating protein 7Rho-GTPase-activating protein 7START domain-containing protein 12StAR-related lipid transfer (START) domain containing 12deleted in liver cancer 1 proteindeleted in liver cancer 1 variant 2deleted in liver cancer varia | serum amyloid A-1 proteinserum amyloid A proteintumor protein p53 inducible protein 4 | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | P00738 | P0DJI8 | |
| Ensembl transtripts involved in fusion gene | ENST00000570083, ENST00000355906, ENST00000398131, ENST00000569639, ENST00000357763, ENST00000562526, ENST00000565574, | ENST00000356524, ENST00000532858, ENST00000405158, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: HP [Title/Abstract] AND SAA1 [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 | HP | GO:0006915 | apoptotic process | 17292327 |
| Hgene | HP | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 17888903 |
| Hgene | HP | GO:0008285 | negative regulation of cell proliferation | 12545165|17932950 |
| Hgene | HP | GO:0030336 | negative regulation of cell migration | 17932950|19158340 |
| Hgene | HP | GO:0035307 | positive regulation of protein dephosphorylation | 17292327 |
| Hgene | HP | GO:0051497 | negative regulation of stress fiber assembly | 17932950 |
| Hgene | HP | GO:0051895 | negative regulation of focal adhesion assembly | 19158340 |
| Hgene | HP | GO:1900119 | positive regulation of execution phase of apoptosis | 17888903 |
| Tgene | SAA1 | GO:0000187 | activation of MAPK activity | 22532826 |
| Tgene | SAA1 | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 9892621 |
| Tgene | SAA1 | GO:0045785 | positive regulation of cell adhesion | 9252455|11830469 |
| Tgene | SAA1 | GO:0048246 | macrophage chemotaxis | 7561109 |
| Tgene | SAA1 | GO:0048247 | lymphocyte chemotaxis | 7636186 |
| Tgene | SAA1 | GO:0050715 | positive regulation of cytokine secretion | 12857601 |
| 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 | LD | LIHC | TCGA-ED-A459-01A | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| * 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 |
| 5CDS-5UTR | ENST00000570083 | ENST00000356524 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000570083 | ENST00000532858 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000570083 | ENST00000405158 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000355906 | ENST00000356524 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000355906 | ENST00000532858 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000355906 | ENST00000405158 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000398131 | ENST00000356524 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000398131 | ENST00000532858 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000398131 | ENST00000405158 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000569639 | ENST00000356524 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000569639 | ENST00000532858 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000569639 | ENST00000405158 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000357763 | ENST00000356524 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000357763 | ENST00000532858 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000357763 | ENST00000405158 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000562526 | ENST00000356524 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000562526 | ENST00000532858 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000562526 | ENST00000405158 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000565574 | ENST00000356524 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000565574 | ENST00000532858 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
| 5CDS-5UTR | ENST00000565574 | ENST00000405158 | HP | chr16 | 72090142 | + | SAA1 | chr11 | 18287811 | + |
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FusionProtFeatures for HP_SAA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HP | SAA1 |
| 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 HP_SAA1 |
| 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 HP_SAA1 |
| 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 |
| HP | HBB, MIS12, GRB2, RBBP6, ELAVL1, ATP7B, VKORC1, ALB, GADD45G, TGM2, RPL11, LAMC3, SMAD3, TBL1X, TP63, WASL, MVP, GDPD1, DDX19B, ICE2, EXOSC9, SORT1, APOA1, DDX31, SNX27, MAPK6 | SAA1 | VIMP, VKORC1 |
| - 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 HP_SAA1 |
| 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 |
| Tgene | SAA1 | P0DJI8 | DB00062 | Human Serum Albumin | Serum amyloid A-1 protein | biotech | approved |
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RelatedDiseases for HP_SAA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HP | C0041696 | Unipolar Depression | 4 | PSYGENET |
| Hgene | HP | C0011570 | Mental Depression | 3 | PSYGENET |
| Hgene | HP | C0011581 | Depressive disorder | 3 | PSYGENET |
| Hgene | HP | C0027051 | Myocardial Infarction | 3 | CTD_human |
| Hgene | HP | C1269683 | Major Depressive Disorder | 3 | PSYGENET |
| Hgene | HP | C0024530 | Malaria | 2 | CTD_human |
| Hgene | HP | C0525045 | Mood Disorders | 2 | PSYGENET |
| Hgene | HP | C0001723 | Affective Disorders, Psychotic | 1 | PSYGENET |
| Hgene | HP | C0002871 | Anemia | 1 | CTD_human |
| Hgene | HP | C0002895 | Anemia, Sickle Cell | 1 | CTD_human |
| Hgene | HP | C0003864 | Arthritis | 1 | CTD_human |
| Hgene | HP | C0004153 | Atherosclerosis | 1 | CTD_human |
| Hgene | HP | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Hgene | HP | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
| Hgene | HP | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human |
| Hgene | HP | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Hgene | HP | C0011875 | Diabetic Angiopathies | 1 | CTD_human |
| Hgene | HP | C0017416 | Genital Neoplasms, Female | 1 | CTD_human |
| Hgene | HP | C0018995 | Hemochromatosis | 1 | CTD_human |
| Hgene | HP | C0019054 | Hemolysis (disorder) | 1 | CTD_human |
| Hgene | HP | C0019163 | Hepatitis B | 1 | CTD_human |
| Hgene | HP | C0019693 | HIV Infections | 1 | CTD_human |
| Hgene | HP | C0020517 | Hypersensitivity | 1 | CTD_human |
| Hgene | HP | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | HP | C0023418 | leukemia | 1 | CTD_human |
| Hgene | HP | C0035305 | Retinal Detachment | 1 | CTD_human |
| Hgene | HP | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | HP | C0041296 | Tuberculosis | 1 | CTD_human |
| Hgene | HP | C0085397 | Pasteurellaceae Infections | 1 | CTD_human |
| Hgene | HP | C0242339 | Dyslipidemias | 1 | CTD_human |
| Hgene | HP | C0342257 | Complications of Diabetes Mellitus | 1 | CTD_human |
| Hgene | HP | C0524909 | Hepatitis B, Chronic | 1 | CTD_human |
| Hgene | HP | C0524910 | Hepatitis C, Chronic | 1 | CTD_human |
| Hgene | HP | C0679360 | Foodborne Disease | 1 | CTD_human |
| Hgene | HP | C0852036 | Pregnancy associated hypertension | 1 | CTD_human |
| Hgene | HP | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | HP | C3279786 | ANHAPTOGLOBINEMIA | 1 | UNIPROT |
| Tgene | SAA1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| Tgene | SAA1 | C0993582 | Arthritis, Experimental | 1 | CTD_human |
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