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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: 2973

FusionGeneSummary for ASH1L_SELL

check button Fusion gene summary
Fusion gene informationFusion gene name: ASH1L_SELL
Fusion gene ID: 2973
HgeneTgene
Gene symbol

ASH1L

SELL

Gene ID

55870

6402

Gene nameASH1 like histone lysine methyltransferaseselectin L
SynonymsASH1|ASH1L1|KMT2H|MRD52CD62L|LAM1|LECAM1|LEU8|LNHR|LSEL|LYAM1|PLNHR|TQ1
Cytomap

1q22

1q24.2

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 ASH1LL-selectinCD62 antigen-like family member Lgp90-MELleukocyte surface antigen Leu-8leukocyte-endothelial cell adhesion molecule 1lymph node homing receptorlymphocyte adhesion molecule 1pln homing receptor
Modification date2018051920180520
UniProtAcc

Q9NR48

P14151

Ensembl transtripts involved in fusion geneENST00000368346, ENST00000392403, 
ENST00000548830, 
ENST00000236147, 
ENST00000463108, 
Fusion gene scores* DoF score27 X 14 X 13=49141 X 1 X 1=1
# samples 301
** MAII scorelog2(30/4914*10)=-4.03386345186628
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: ASH1L [Title/Abstract] AND SELL [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


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
TCGARVSARCTCGA-DX-A1KY-01AASH1Lchr1

155531944

-SELLchr1

169665694

-
* 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-3CDSENST00000368346ENST00000236147ASH1Lchr1

155531944

-SELLchr1

169665694

-
5UTR-intronENST00000368346ENST00000463108ASH1Lchr1

155531944

-SELLchr1

169665694

-
5UTR-3CDSENST00000392403ENST00000236147ASH1Lchr1

155531944

-SELLchr1

169665694

-
5UTR-intronENST00000392403ENST00000463108ASH1Lchr1

155531944

-SELLchr1

169665694

-
5UTR-3CDSENST00000548830ENST00000236147ASH1Lchr1

155531944

-SELLchr1

169665694

-
5UTR-intronENST00000548830ENST00000463108ASH1Lchr1

155531944

-SELLchr1

169665694

-

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FusionProtFeatures for ASH1L_SELL


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

Q9NR48

SELL

P14151

Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. Calcium-dependent lectin that mediates cell adhesion bybinding to glycoproteins on neighboring cells (PubMed:12403782,PubMed:28489325, PubMed:28011641). Mediates the adherence oflymphocytes to endothelial cells of high endothelial venules inperipheral lymph nodes. Promotes initial tethering and rolling ofleukocytes in endothelia (PubMed:12403782, PubMed:28011641).{ECO:0000269|PubMed:12403782, ECO:0000269|PubMed:28011641,ECO:0000305|PubMed:28489325}.

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_SELL


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_SELL


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, CDX1SELLEMCN, PODXL2, PODXL, CFH, GRB2, MUC7, VCAN, MSN, EZR, SELE, PRKCA, PRKG1, PRKCQ


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_SELL


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_SELL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASH1LC0023903Liver neoplasms1CTD_human
TgeneSELLC0027051Myocardial Infarction1CTD_human