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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 2941

FusionGeneSummary for ASCC3_ATL1

check button Fusion gene summary
Fusion gene informationFusion gene name: ASCC3_ATL1
Fusion gene ID: 2941
HgeneTgene
Gene symbol

ASCC3

ATL1

Gene ID

10973

64919

Gene nameactivating signal cointegrator 1 complex subunit 3B cell CLL/lymphoma 11B
SynonymsASC1p200|HELIC1|RNAHATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IMD49|RIT1|ZNF856B|hRIT1-alpha
Cytomap

6q16.3

14q32.2

Type of geneprotein-codingprotein-coding
Descriptionactivating signal cointegrator 1 complex subunit 3ASC-1 complex subunit P200RNA helicase familyhelicase, ATP binding 1trip4 complex subunit p200B-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 date2018052320180523
UniProtAcc

Q8N3C0

Q8WXF7

Ensembl transtripts involved in fusion geneENST00000369162, ENST00000522650, 
ENST00000369143, 
ENST00000556478, 
ENST00000441560, ENST00000357032, 
ENST00000354525, ENST00000358385, 
Fusion gene scores* DoF score8 X 7 X 7=3922 X 2 X 2=8
# samples 82
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneASCC3

GO:0006307

DNA dealkylation involved in DNA repair

22055184

HgeneASCC3

GO:0032508

DNA duplex unwinding

22055184


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-A8-A06T-01AASCC3chr6

101053444

-ATL1chr14

51094749

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000369162ENST00000556478ASCC3chr6

101053444

-ATL1chr14

51094749

+
5CDS-intronENST00000369162ENST00000441560ASCC3chr6

101053444

-ATL1chr14

51094749

+
5CDS-intronENST00000369162ENST00000357032ASCC3chr6

101053444

-ATL1chr14

51094749

+
5CDS-intronENST00000369162ENST00000354525ASCC3chr6

101053444

-ATL1chr14

51094749

+
5CDS-intronENST00000369162ENST00000358385ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000522650ENST00000556478ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000522650ENST00000441560ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000522650ENST00000357032ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000522650ENST00000354525ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000522650ENST00000358385ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000369143ENST00000556478ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000369143ENST00000441560ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000369143ENST00000357032ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000369143ENST00000354525ASCC3chr6

101053444

-ATL1chr14

51094749

+
intron-intronENST00000369143ENST00000358385ASCC3chr6

101053444

-ATL1chr14

51094749

+

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FusionProtFeatures for ASCC3_ATL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASCC3

Q8N3C0

ATL1

Q8WXF7

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ASCC3_ATL1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
ASCC3EIF3F, 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, UBCATL1NTRK1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ASCC3_ATL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ASCC3_ATL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASCC3C3714756Intellectual Disability1CTD_human
TgeneATL1C2931355Spastic paraplegia 3, autosomal dominant14CTD_human;ORPHANET;UNIPROT
TgeneATL1C3150972NEUROPATHY, HEREDITARY SENSORY, TYPE ID1UNIPROT