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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: 2954

FusionGeneSummary for ASH1L_AIM2

check button Fusion gene summary
Fusion gene informationFusion gene name: ASH1L_AIM2
Fusion gene ID: 2954
HgeneTgene
Gene symbol

ASH1L

AIM2

Gene ID

55870

9447

Gene nameASH1 like histone lysine methyltransferaseabsent in melanoma 2
SynonymsASH1|ASH1L1|KMT2H|MRD52PYHIN4
Cytomap

1q22

1q23.1-q23.2

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase ASH1LASH1-like proteinabsent small and homeotic disks protein 1 homologash1 (absent, small, or homeotic)-likelysine N-methyltransferase 2Hprobable histone-lysine N-methyltransferase ASH1Linterferon-inducible protein AIM2
Modification date2018051920180519
UniProtAcc

Q9NR48

O14862

Ensembl transtripts involved in fusion geneENST00000368346, ENST00000392403, 
ENST00000548830, 
ENST00000368130, 
ENST00000411768, 
Fusion gene scores* DoF score27 X 14 X 13=49142 X 3 X 1=6
# samples 302
** MAII scorelog2(30/4914*10)=-4.03386345186628
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/6*10)=1.73696559416621
Context

PubMed: ASH1L [Title/Abstract] AND AIM2 [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
HgeneASH1L

GO:0097676

histone H3-K36 dimethylation

26002201

TgeneAIM2

GO:0002218

activation of innate immune response

19158675|19158676|19158679

TgeneAIM2

GO:0032088

negative regulation of NF-kappaB transcription factor activity

16432157

TgeneAIM2

GO:0032461

positive regulation of protein oligomerization

19158676

TgeneAIM2

GO:0032731

positive regulation of interleukin-1 beta production

19158675|19158676|19158679

TgeneAIM2

GO:0033209

tumor necrosis factor-mediated signaling pathway

16432157

TgeneAIM2

GO:0035690

cellular response to drug

19158679

TgeneAIM2

GO:0050718

positive regulation of interleukin-1 beta secretion

19158679

TgeneAIM2

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19158675

TgeneAIM2

GO:0070269

pyroptosis

19158675|19158676

TgeneAIM2

GO:2001056

positive regulation of cysteine-type endopeptidase activity

19158676|19158679


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
TCGARVBRCATCGA-A8-A07I-01AASH1Lchr1

155531944

-AIM2chr1

159043309

-
TCGALDBRCATCGA-A8-A07I-01AASH1Lchr1

155531944

-AIM2chr1

159038491

-
* 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
5UTR-5UTRENST00000368346ENST00000368130ASH1Lchr1

155531944

-AIM2chr1

159043309

-
5UTR-5UTRENST00000368346ENST00000411768ASH1Lchr1

155531944

-AIM2chr1

159043309

-
5UTR-5UTRENST00000392403ENST00000368130ASH1Lchr1

155531944

-AIM2chr1

159043309

-
5UTR-5UTRENST00000392403ENST00000411768ASH1Lchr1

155531944

-AIM2chr1

159043309

-
5UTR-5UTRENST00000548830ENST00000368130ASH1Lchr1

155531944

-AIM2chr1

159043309

-
5UTR-5UTRENST00000548830ENST00000411768ASH1Lchr1

155531944

-AIM2chr1

159043309

-
5UTR-3CDSENST00000368346ENST00000368130ASH1Lchr1

155531944

-AIM2chr1

159038491

-
5UTR-5UTRENST00000368346ENST00000411768ASH1Lchr1

155531944

-AIM2chr1

159038491

-
5UTR-3CDSENST00000392403ENST00000368130ASH1Lchr1

155531944

-AIM2chr1

159038491

-
5UTR-5UTRENST00000392403ENST00000411768ASH1Lchr1

155531944

-AIM2chr1

159038491

-
5UTR-3CDSENST00000548830ENST00000368130ASH1Lchr1

155531944

-AIM2chr1

159038491

-
5UTR-5UTRENST00000548830ENST00000411768ASH1Lchr1

155531944

-AIM2chr1

159038491

-

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FusionProtFeatures for ASH1L_AIM2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASH1L

Q9NR48

AIM2

O14862

Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. Involved in innate immune response by recognizingcytosolic double-stranded DNA and inducing caspase-1-activatinginflammasome formation in macrophages. Upon binding to DNA isthought to undergo oligomerization and to associate with PYCARDinitiating the recruitment of caspase-1 precusrsor and processingof interleukin-1 beta and interleukin-18. Detects cytosolic dsDNAof viral and bacterial origin in a non-sequence-specific manner.Can also trigger PYCARD-dependent, caspase-1-independent celldeath that involves caspase-8 (By similarity). Tumor suppressorwhich may act by repressing NF-kappa-B transcriptional activity.{ECO:0000250, ECO:0000269|PubMed:16432157,ECO:0000269|PubMed:17726700, ECO:0000269|PubMed:19158675,ECO:0000269|PubMed:19158676, ECO:0000269|PubMed:19158679,ECO:0000269|PubMed:20566831}.

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 ASH1L_AIM2


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 ASH1L_AIM2


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
ASH1LHIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1AIM2APPBP2, PYCARD


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 ASH1L_AIM2


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 ASH1L_AIM2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASH1LC0023903Liver neoplasms1CTD_human