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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: 2938

FusionGeneSummary for ASCC2_LAMTOR3

check button Fusion gene summary
Fusion gene informationFusion gene name: ASCC2_LAMTOR3
Fusion gene ID: 2938
HgeneTgene
Gene symbol

ASCC2

LAMTOR3

Gene ID

84164

8649

Gene nameactivating signal cointegrator 1 complex subunit 2late endosomal/lysosomal adaptor, MAPK and MTOR activator 3
SynonymsASC1p100|p100MAP2K1IP1|MAPBP|MAPKSP1|MP1|PRO0633|Ragulator3
Cytomap

22q12.2

4q23

Type of geneprotein-codingprotein-coding
Descriptionactivating signal cointegrator 1 complex subunit 2ASC-1 complex subunit P100trip4 complex subunit p100ragulator complex protein LAMTOR3MAPK scaffold protein 1MEK binding partner 1late endosomal/lysosomal adaptor and MAPK and MTOR activator 3mitogen-activated protein kinase kinase 1 interacting protein 1mitogen-activated protein kinase scaffold protei
Modification date2018051920180520
UniProtAcc

Q9H1I8

Q9UHA4

Ensembl transtripts involved in fusion geneENST00000307790, ENST00000397771, 
ENST00000542393, ENST00000478812, 
ENST00000499666, ENST00000226522, 
ENST00000515100, 
Fusion gene scores* DoF score6 X 6 X 3=1082 X 2 X 2=8
# samples 82
** MAII scorelog2(8/108*10)=-0.432959407276106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ASCC2 [Title/Abstract] AND LAMTOR3 [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
HgeneASCC2

GO:0006355

regulation of transcription, DNA-templated

12077347


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
ChiTaRS3.1AK093581ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
* 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
intron-5UTRENST00000307790ENST00000499666ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-intronENST00000307790ENST00000226522ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-intronENST00000307790ENST00000515100ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-5UTRENST00000397771ENST00000499666ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-intronENST00000397771ENST00000226522ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-intronENST00000397771ENST00000515100ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-5UTRENST00000542393ENST00000499666ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-intronENST00000542393ENST00000226522ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-intronENST00000542393ENST00000515100ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-5UTRENST00000478812ENST00000499666ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-intronENST00000478812ENST00000226522ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-
intron-intronENST00000478812ENST00000515100ASCC2chr22

30195484

-LAMTOR3chr4

100815585

-

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FusionProtFeatures for ASCC2_LAMTOR3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASCC2

Q9H1I8

LAMTOR3

Q9UHA4

Enhances NF-kappa-B, SRF and AP1 transactivation. As part of the Ragulator complex it is involved in aminoacid sensing and activation of mTORC1, a signaling complexpromoting cell growth in response to growth factors, energylevels, and amino acids. Activated by amino acids through amechanism involving the lysosomal V-ATPase, the Ragulatorfunctions as a guanine nucleotide exchange factor activating thesmall GTPases Rag. Activated Ragulator and Rag GTPases function asa scaffold recruiting mTORC1 to lysosomes where it is in turnactivated. Adapter protein that enhances the efficiency of the MAPkinase cascade facilitating the activation of MAPK2.{ECO:0000269|PubMed:20381137, ECO:0000269|PubMed:22980980}.

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 ASCC2_LAMTOR3


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 ASCC2_LAMTOR3


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


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 ASCC2_LAMTOR3


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 ASCC2_LAMTOR3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource