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Fusion gene ID: 2448 |
FusionGeneSummary for ARHGAP35_NPAS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARHGAP35_NPAS1 | Fusion gene ID: 2448 | Hgene | Tgene | Gene symbol | ARHGAP35 | NPAS1 | Gene ID | 2909 | 4861 |
| Gene name | Rho GTPase activating protein 35 | neuronal PAS domain protein 1 | |
| Synonyms | GRF-1|GRLF1|P190-A|P190A|p190ARhoGAP|p190RhoGAP | MOP5|PASD5|bHLHe11 | |
| Cytomap | 19q13.32 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho GTPase-activating protein 35glucocorticoid receptor DNA-binding factor 1glucocorticoid receptor repression factor 1rho GAP p190A | neuronal PAS domain-containing protein 1PAS domain-containing protein 5basic-helix-loop-helix-PAS protein MOP5class E basic helix-loop-helix protein 11member of PAS protein 5member of PAS superfamily 5neuronal PAS1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9NRY4 | Q99742 | |
| Ensembl transtripts involved in fusion gene | ENST00000404338, ENST00000598548, | ENST00000602212, ENST00000602189, ENST00000449844, ENST00000439365, | |
| Fusion gene scores | * DoF score | 11 X 5 X 8=440 | 4 X 3 X 4=48 |
| # samples | 11 | 4 | |
| ** MAII score | log2(11/440*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ARHGAP35 [Title/Abstract] AND NPAS1 [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 | ARHGAP35 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 1894621 |
| Hgene | ARHGAP35 | GO:0045892 | negative regulation of transcription, DNA-templated | 1894621 |
| 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 | KIRC | TCGA-B0-5107-01A | ARHGAP35 | chr19 | 47425613 | + | NPAS1 | chr19 | 47535536 | + |
| * 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 | ENST00000404338 | ENST00000602212 | ARHGAP35 | chr19 | 47425613 | + | NPAS1 | chr19 | 47535536 | + |
| 5CDS-5UTR | ENST00000404338 | ENST00000602189 | ARHGAP35 | chr19 | 47425613 | + | NPAS1 | chr19 | 47535536 | + |
| 5CDS-5UTR | ENST00000404338 | ENST00000449844 | ARHGAP35 | chr19 | 47425613 | + | NPAS1 | chr19 | 47535536 | + |
| 5CDS-intron | ENST00000404338 | ENST00000439365 | ARHGAP35 | chr19 | 47425613 | + | NPAS1 | chr19 | 47535536 | + |
| intron-3CDS | ENST00000598548 | ENST00000602212 | ARHGAP35 | chr19 | 47425613 | + | NPAS1 | chr19 | 47535536 | + |
| intron-5UTR | ENST00000598548 | ENST00000602189 | ARHGAP35 | chr19 | 47425613 | + | NPAS1 | chr19 | 47535536 | + |
| intron-5UTR | ENST00000598548 | ENST00000449844 | ARHGAP35 | chr19 | 47425613 | + | NPAS1 | chr19 | 47535536 | + |
| intron-intron | ENST00000598548 | ENST00000439365 | ARHGAP35 | chr19 | 47425613 | + | NPAS1 | chr19 | 47535536 | + |
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FusionProtFeatures for ARHGAP35_NPAS1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARHGAP35 | NPAS1 |
| Rho GTPase-activating protein (GAP) (PubMed:19673492,PubMed:28894085). Binds several acidic phospholipids whichinhibits the Rho GAP activity to promote the Rac GAP activity(PubMed:19673492). This binding is inhibited by phosphorylation byPRKCA (PubMed:19673492). Involved in cell differentiation as wellas cell adhesion and migration, plays an important role in retinaltissue morphogenesis, neural tube fusion, midline fusion of thecerebral hemispheres and mammary gland branching morphogenesis (Bysimilarity). Transduces signals from p21-ras to the nucleus,acting via the ras GTPase-activating protein (GAP) (Bysimilarity). Transduces SRC-dependent signals from cell-surfaceadhesion molecules, such as laminin, to promote neurite outgrowth.Regulates axon outgrowth, guidance and fasciculation (Bysimilarity). Modulates Rho GTPase-dependent F-actinpolymerization, organization and assembly, is involved inpolarized cell migration and in the positive regulation ofciliogenesis and cilia elongation (By similarity). During mammarygland development, is required in both the epithelial and stromalcompartments for ductal outgrowth (By similarity). Repressestranscription of the glucocorticoid receptor by binding to thecis-acting regulatory sequence 5'-GAGAAAAGAAACTGGAGAAACTC-3'; thisfunction is however unclear and would need additional experimentalevidences (PubMed:1894621). {ECO:0000250|UniProtKB:P81128,ECO:0000250|UniProtKB:Q91YM2, ECO:0000269|PubMed:1894621,ECO:0000269|PubMed:19673492, ECO:0000269|PubMed:28894085}. | May control regulatory pathways relevant toschizophrenia and to psychotic illness. May play a role in latecentral nervous system development by modulating EPO expression inresponse to cellular oxygen level (By similarity). Forms aheterodimer that binds core DNA sequence 5'-TACGTG-3' within thehypoxia response element (HRE) leading to transcriptionalrepression on its target gene TH (By similarity). {ECO:0000250,ECO:0000250|UniProtKB:P97459}. |
| 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 ARHGAP35_NPAS1 |
| 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 ARHGAP35_NPAS1 |
| 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 |
| ARHGAP35 | RASA1, RHOA, GRB2, BCL6, RND1, RND2, RND3, KRT31, TCERG1, NTRK1, CDC42, RAC1, SERPINB2 | NPAS1 | ARNT, ARNT2, TUBB1, SMG7, AKAP1, ATG2B, PRUNE, CRYBG3, DNAJB5, PRKACB, HAUS6, TUBB3, HSPA8, PPP6R1, FAM83D |
| - 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 ARHGAP35_NPAS1 |
| 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 ARHGAP35_NPAS1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ARHGAP35 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | NPAS1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | NPAS1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Tgene | NPAS1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
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