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Fusion gene ID: 35069 |
FusionGeneSummary for SNAPC4_ABCA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SNAPC4_ABCA2 | Fusion gene ID: 35069 | Hgene | Tgene | Gene symbol | SNAPC4 | ABCA2 | Gene ID | 6621 | 20 |
| Gene name | small nuclear RNA activating complex polypeptide 4 | ATP binding cassette subfamily A member 2 | |
| Synonyms | PTFalpha|SNAP190 | ABC2 | |
| Cytomap | 9q34.3 | 9q34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | snRNA-activating protein complex subunit 4PSE-binding factor subunit alphaPTF subunit alphaSNAPc 190 kDa subunitSNAPc subunit 4proximal sequence element-binding transcription factor subunit alphasnRNA-activating protein complex 190 kDa subunit | ATP-binding cassette sub-family A member 2ATP-binding cassette 2ATP-binding cassette transporter 2ATP-binding cassette, sub-family A (ABC1), member 2ATP-binding cassette, sub-family A, member 2 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q5SXM2 | Q9BZC7 | |
| Ensembl transtripts involved in fusion gene | ENST00000298532, | ENST00000341511, ENST00000265662, ENST00000371605, ENST00000492260, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SNAPC4 [Title/Abstract] AND ABCA2 [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 | SNAPC4 | GO:0042795 | snRNA transcription by RNA polymerase II | 9418884 |
| Hgene | SNAPC4 | GO:0042796 | snRNA transcription by RNA polymerase III | 9418884 |
| Tgene | ABCA2 | GO:0006357 | regulation of transcription by RNA polymerase II | 15238223 |
| 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 | ESCA | TCGA-L5-A4OS-01A | SNAPC4 | chr9 | 139294586 | - | ABCA2 | chr9 | 139918688 | - |
| * 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-3CDS | ENST00000298532 | ENST00000341511 | SNAPC4 | chr9 | 139294586 | - | ABCA2 | chr9 | 139918688 | - |
| intron-3CDS | ENST00000298532 | ENST00000265662 | SNAPC4 | chr9 | 139294586 | - | ABCA2 | chr9 | 139918688 | - |
| intron-3CDS | ENST00000298532 | ENST00000371605 | SNAPC4 | chr9 | 139294586 | - | ABCA2 | chr9 | 139918688 | - |
| intron-5UTR | ENST00000298532 | ENST00000492260 | SNAPC4 | chr9 | 139294586 | - | ABCA2 | chr9 | 139918688 | - |
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FusionProtFeatures for SNAPC4_ABCA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SNAPC4 | ABCA2 |
| Part of the SNAPc complex required for the transcriptionof both RNA polymerase II and III small-nuclear RNA genes. Bindsto the proximal sequence element (PSE), a non-TATA-box basalpromoter element common to these 2 types of genes. Recruits TBPand BRF2 to the U6 snRNA TATA box. {ECO:0000269|PubMed:12621023,ECO:0000269|PubMed:9418884}. | Probable transporter, its natural substrate has not beenfound yet. May have a role in macrophage lipid metabolism andneural development. |
| 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 SNAPC4_ABCA2 |
| 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 SNAPC4_ABCA2 |
| 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 |
| SNAPC4 | TBP, POU2F1, SNAPC2, SNAPC5, SNAPC1, TAF10, ATG16L1, MAPK6, HNRNPD, PSME3, NCAPH2 | ABCA2 | CACNA1A, CDK5RAP2, NXF1, PTCH1, PON2, CLTC, LAMB3, MYC, PCDH1, PMS2, YWHAH, RAB32, GPATCH8, SDHAF2, TMEM248, RNASEH2B, ZNRF4, LMAN2L, HTR3A |
| - 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 SNAPC4_ABCA2 |
| 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 SNAPC4_ABCA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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