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Fusion gene ID: 2941 |
FusionGeneSummary for ASCC3_ATL1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ASCC3_ATL1 | Fusion gene ID: 2941 | Hgene | Tgene | Gene symbol | ASCC3 | ATL1 | Gene ID | 10973 | 64919 |
Gene name | activating signal cointegrator 1 complex subunit 3 | B cell CLL/lymphoma 11B | |
Synonyms | ASC1p200|HELIC1|RNAH | ATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IMD49|RIT1|ZNF856B|hRIT1-alpha | |
Cytomap | 6q16.3 | 14q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | activating signal cointegrator 1 complex subunit 3ASC-1 complex subunit P200RNA helicase familyhelicase, ATP binding 1trip4 complex subunit p200 | B-cell lymphoma/leukemia 11BB-cell CLL/lymphoma 11B (zinc finger protein)B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion proteinB-cell lymphoma/leukaemia 11BBCL-11BBCL11B/TRDC fusionCOUP-TF-interacting protein 2hRit1radiation- | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q8N3C0 | Q8WXF7 | |
Ensembl transtripts involved in fusion gene | ENST00000369162, ENST00000522650, ENST00000369143, | ENST00000556478, ENST00000441560, ENST00000357032, ENST00000354525, ENST00000358385, | |
Fusion gene scores | * DoF score | 8 X 7 X 7=392 | 2 X 2 X 2=8 |
# samples | 8 | 2 | |
** MAII score | log2(8/392*10)=-2.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: ASCC3 [Title/Abstract] AND ATL1 [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 | ASCC3 | GO:0006307 | DNA dealkylation involved in DNA repair | 22055184 |
Hgene | ASCC3 | GO:0032508 | DNA duplex unwinding | 22055184 |
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 | BRCA | TCGA-A8-A06T-01A | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
* 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-intron | ENST00000369162 | ENST00000556478 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
5CDS-intron | ENST00000369162 | ENST00000441560 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
5CDS-intron | ENST00000369162 | ENST00000357032 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
5CDS-intron | ENST00000369162 | ENST00000354525 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
5CDS-intron | ENST00000369162 | ENST00000358385 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000522650 | ENST00000556478 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000522650 | ENST00000441560 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000522650 | ENST00000357032 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000522650 | ENST00000354525 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000522650 | ENST00000358385 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000369143 | ENST00000556478 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000369143 | ENST00000441560 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000369143 | ENST00000357032 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000369143 | ENST00000354525 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
intron-intron | ENST00000369143 | ENST00000358385 | ASCC3 | chr6 | 101053444 | - | ATL1 | chr14 | 51094749 | + |
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FusionProtFeatures for ASCC3_ATL1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ASCC3 | ATL1 |
3'-5' DNA helicase involved in repair of alkylated DNA.Promotes DNA unwinding to generate single-stranded substrateneeded for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions. Enhances NF-kappa-B, SRF and AP1 transactivation.{ECO:0000269|PubMed:22055184}. | GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmicreticulum membranes. Functions in endoplasmic reticulum tubularnetwork biogenesis (PubMed:27619977). May also regulate Golgibiogenesis. May regulate axonal development.{ECO:0000269|PubMed:14506257, ECO:0000269|PubMed:17321752,ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:19665976,ECO:0000269|PubMed:21220294, ECO:0000269|PubMed:23334294,ECO:0000269|PubMed:25751282, ECO:0000269|PubMed:27619977}. |
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 ASCC3_ATL1 |
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 ASCC3_ATL1 |
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 |
ASCC3 | EIF3F, OTUD6B, G3BP1, G3BP2, SIRT7, CAND1, NOTCH1, SKIL, SOX2, HECW2, LGR4, ENO1, MOV10, NXF1, CCDC8, ALKBH3, RPS2, ASCC1, THBS3, ASCC2, NTRK1, IFI16, CC2D2A, CEP170, CEP128, CDK1, IQGAP1, HCCS, ZNF263, UBC | ATL1 | NTRK1 |
- 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 ASCC3_ATL1 |
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 ASCC3_ATL1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ASCC3 | C3714756 | Intellectual Disability | 1 | CTD_human |
Tgene | ATL1 | C2931355 | Spastic paraplegia 3, autosomal dominant | 14 | CTD_human;ORPHANET;UNIPROT |
Tgene | ATL1 | C3150972 | NEUROPATHY, HEREDITARY SENSORY, TYPE ID | 1 | UNIPROT |