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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: 2965

FusionGeneSummary for ASH1L_INSRR

check button Fusion gene summary
Fusion gene informationFusion gene name: ASH1L_INSRR
Fusion gene ID: 2965
HgeneTgene
Gene symbol

ASH1L

INSRR

Gene ID

55870

3645

Gene nameASH1 like histone lysine methyltransferaseinsulin receptor related receptor
SynonymsASH1|ASH1L1|KMT2H|MRD52IRR
Cytomap

1q22

1q23.1

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 ASH1Linsulin receptor-related proteinIR-related receptor
Modification date2018051920180523
UniProtAcc

Q9NR48

P14616

Ensembl transtripts involved in fusion geneENST00000368346, ENST00000392403, 
ENST00000548830, 
ENST00000368195, 
Fusion gene scores* DoF score27 X 14 X 13=49143 X 2 X 2=12
# samples 303
** MAII scorelog2(30/4914*10)=-4.03386345186628
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ASH1L [Title/Abstract] AND INSRR [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

TgeneINSRR

GO:0031532

actin cytoskeleton reorganization

21641549

TgeneINSRR

GO:0071469

cellular response to alkaline pH

21641549


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
TCGARVLUADTCGA-91-A4BC-01AASH1Lchr1

155490891

-INSRRchr1

156824095

-
* 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
Frame-shitENST00000368346ENST00000368195ASH1Lchr1

155490891

-INSRRchr1

156824095

-
Frame-shitENST00000392403ENST00000368195ASH1Lchr1

155490891

-INSRRchr1

156824095

-
Frame-shitENST00000548830ENST00000368195ASH1Lchr1

155490891

-INSRRchr1

156824095

-

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FusionProtFeatures for ASH1L_INSRR


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

Q9NR48

INSRR

P14616

Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. Receptor with tyrosine-protein kinase activity.Functions as a pH sensing receptor which is activated by increasedextracellular pH. Activates an intracellular signaling pathwaythat involves IRS1 and AKT1/PKB. {ECO:0000269|PubMed:21641549}.

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_INSRR


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_INSRR


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, CDX1INSRRINSR, HSP90AA1, CTDSP2, STYX


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_INSRR


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_INSRR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASH1LC0023903Liver neoplasms1CTD_human
TgeneINSRRC0010606Adenoid Cystic Carcinoma1CTD_human