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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: 3234

FusionGeneSummary for ATM_ASPH

check button Fusion gene summary
Fusion gene informationFusion gene name: ATM_ASPH
Fusion gene ID: 3234
HgeneTgene
Gene symbol

ATM

ASPH

Gene ID

472

444

Gene nameATM serine/threonine kinaseaspartate beta-hydroxylase
SynonymsAT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1AAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin
Cytomap

11q22.3

8q12.3

Type of geneprotein-codingprotein-coding
Descriptionserine-protein kinase ATMA-T mutatedAT mutatedTEL1, telomere maintenance 1, homologataxia telangiectasia mutatedaspartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenase
Modification date2018052320180519
UniProtAcc

Q13315

Q12797

Ensembl transtripts involved in fusion geneENST00000278616, ENST00000452508, 
ENST00000525178, 		ENST00000541428, 
ENST00000379454, ENST00000523897, 
ENST00000522919, ENST00000356457, 
ENST00000518068, ENST00000517903, 
ENST00000445642, ENST00000517847, 
ENST00000522835, ENST00000517856, 
ENST00000389204, ENST00000522603, 
ENST00000379449, ENST00000517661, 
Fusion gene scores* DoF score3 X 3 X 2=1812 X 12 X 3=432
# samples 316
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(16/432*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATM [Title/Abstract] AND ASPH [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
HgeneATM

GO:0006468

protein phosphorylation

15916964

HgeneATM

GO:0006974

cellular response to DNA damage stimulus

16213212

HgeneATM

GO:0006975

DNA damage induced protein phosphorylation

9733515

HgeneATM

GO:0010212

response to ionizing radiation

9733515|11375976

HgeneATM

GO:0018105

peptidyl-serine phosphorylation

9733515|26323318

HgeneATM

GO:0046777

protein autophosphorylation

9733515|15790808

HgeneATM

GO:0071044

histone mRNA catabolic process

16086026

HgeneATM

GO:0071480

cellular response to gamma radiation

9925639|16213212

HgeneATM

GO:0071481

cellular response to X-ray

26323318

HgeneATM

GO:0071500

cellular response to nitrosative stress

23878245

TgeneASPH

GO:0045862

positive regulation of proteolysis

18387192

TgeneASPH

GO:0097202

activation of cysteine-type endopeptidase activity

18387192


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
ChiTaRS3.1CB269353ATMchr11

108106442

+ASPHchr8

62415173

-
* 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-3UTRENST00000278616ENST00000541428ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-3UTRENST00000278616ENST00000379454ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000523897ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000522919ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000356457ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000518068ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000517903ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000445642ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000517847ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000522835ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000517856ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000389204ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000522603ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000379449ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000278616ENST00000517661ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-3UTRENST00000452508ENST00000541428ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-3UTRENST00000452508ENST00000379454ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000523897ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000522919ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000356457ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000518068ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000517903ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000445642ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000517847ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000522835ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000517856ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000389204ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000522603ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000379449ATMchr11

108106442

+ASPHchr8

62415173

-
5CDS-intronENST00000452508ENST00000517661ATMchr11

108106442

+ASPHchr8

62415173

-
intron-3UTRENST00000525178ENST00000541428ATMchr11

108106442

+ASPHchr8

62415173

-
intron-3UTRENST00000525178ENST00000379454ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000523897ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000522919ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000356457ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000518068ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000517903ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000445642ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000517847ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000522835ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000517856ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000389204ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000522603ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000379449ATMchr11

108106442

+ASPHchr8

62415173

-
intron-intronENST00000525178ENST00000517661ATMchr11

108106442

+ASPHchr8

62415173

-

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FusionProtFeatures for ATM_ASPH


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

Q13315

ASPH

Q12797

Serine/threonine protein kinase which activatescheckpoint signaling upon double strand breaks (DSBs), apoptosisand genotoxic stresses such as ionizing ultraviolet A light (UVA),thereby acting as a DNA damage sensor. Recognizes the substrateconsensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histonevariant H2AX/H2AFX at double strand breaks (DSBs), therebyregulating DNA damage response mechanism. Also plays a role inpre-B cell allelic exclusion, a process leading to expression of asingle immunoglobulin heavy chain allele to enforce clonality andmonospecific recognition by the B-cell antigen receptor (BCR)expressed on individual B-lymphocytes. After the introduction ofDNA breaks by the RAG complex on one immunoglobulin allele, actsby mediating a repositioning of the second allele topericentromeric heterochromatin, preventing accessibility to theRAG complex and recombination of the second allele. Also involvedin signal transduction and cell cycle control. May function as atumor suppressor. Necessary for activation of ABL1 and SAPK.Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1,CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role invesicle and/or protein transport. Could play a role in T-celldevelopment, gonad and neurological function. Plays a role inreplication-dependent histone mRNA degradation. Binds DNA ends.Phosphorylation of DYRK2 in nucleus in response to genotoxicstress prevents its MDM2-mediated ubiquitination and subsequentproteasome degradation. Phosphorylates ATF2 which stimulates itsfunction in DNA damage response. {ECO:0000269|PubMed:10973490,ECO:0000269|PubMed:12556884, ECO:0000269|PubMed:14871926,ECO:0000269|PubMed:15916964, ECO:0000269|PubMed:16086026,ECO:0000269|PubMed:16858402, ECO:0000269|PubMed:17923702,ECO:0000269|PubMed:19431188, ECO:0000269|PubMed:19965871}.

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 ATM_ASPH


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 ATM_ASPH


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 ATM_ASPH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneATMQ13315DB00201CaffeineSerine-protein kinase ATMsmall moleculeapproved

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RelatedDiseases for ATM_ASPH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATMC0004135Ataxia Telangiectasia18CTD_human;ORPHANET;UNIPROT
HgeneATMC0033578Prostatic Neoplasms3CTD_human
HgeneATMC0030297Pancreatic Neoplasm2CTD_human
HgeneATMC0005695Bladder Neoplasm1CTD_human
HgeneATMC0007137Squamous cell carcinoma1CTD_human
HgeneATMC0007193Cardiomyopathy, Dilated1CTD_human
HgeneATMC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneATMC0016059Fibrosis1CTD_human
HgeneATMC0023434Chronic Lymphocytic Leukemia1CTD_human;ORPHANET
HgeneATMC0025202melanoma1CTD_human
HgeneATMC0027051Myocardial Infarction1CTD_human
HgeneATMC0033054Prenatal Exposure Delayed Effects1CTD_human
HgeneATMC0036341Schizophrenia1PSYGENET
HgeneATMC0038356Stomach Neoplasms1CTD_human
HgeneATMC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
HgeneATMC0079774Peripheral T-Cell Lymphoma1CTD_human
HgeneATMC0086543Cataract1CTD_human
HgeneATMC0242698Ventricular Dysfunction, Left1CTD_human
HgeneATMC2239176Liver carcinoma1CTD_human
TgeneASPHC1832167Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism1ORPHANET;UNIPROT