FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 2974

FusionGeneSummary for ASH1L_SLC28A3

check button Fusion gene summary
Fusion gene informationFusion gene name: ASH1L_SLC28A3
Fusion gene ID: 2974
HgeneTgene
Gene symbol

ASH1L

SLC28A3

Gene ID

55870

64078

Gene nameASH1 like histone lysine methyltransferasesolute carrier family 28 member 3
SynonymsASH1|ASH1L1|KMT2H|MRD52CNT3
Cytomap

1q22

9q21.32-q21.33

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 ASH1Lsolute carrier family 28 member 3concentrative Na(+)-nucleoside cotransporter 3concentrative Na+-nucleoside cotransportersolute carrier family 28 (concentrative nucleoside transporter), member 3solute carrier family 28 (sodium-coupled nucleoside trans
Modification date2018051920180523
UniProtAcc

Q9NR48

Q9HAS3

Ensembl transtripts involved in fusion geneENST00000368346, ENST00000392403, 
ENST00000548830, 
ENST00000376238, 
ENST00000537648, ENST00000495823, 
Fusion gene scores* DoF score27 X 14 X 13=49146 X 4 X 4=96
# samples 306
** MAII scorelog2(30/4914*10)=-4.03386345186628
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASH1L [Title/Abstract] AND SLC28A3 [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
TCGARVSTADTCGA-BR-4357-01AASH1Lchr1

155531944

-SLC28A3chr9

86909190

-
* 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-3CDSENST00000368346ENST00000376238ASH1Lchr1

155531944

-SLC28A3chr9

86909190

-
5UTR-3CDSENST00000368346ENST00000537648ASH1Lchr1

155531944

-SLC28A3chr9

86909190

-
5UTR-intronENST00000368346ENST00000495823ASH1Lchr1

155531944

-SLC28A3chr9

86909190

-
5UTR-3CDSENST00000392403ENST00000376238ASH1Lchr1

155531944

-SLC28A3chr9

86909190

-
5UTR-3CDSENST00000392403ENST00000537648ASH1Lchr1

155531944

-SLC28A3chr9

86909190

-
5UTR-intronENST00000392403ENST00000495823ASH1Lchr1

155531944

-SLC28A3chr9

86909190

-
5UTR-3CDSENST00000548830ENST00000376238ASH1Lchr1

155531944

-SLC28A3chr9

86909190

-
5UTR-3CDSENST00000548830ENST00000537648ASH1Lchr1

155531944

-SLC28A3chr9

86909190

-
5UTR-intronENST00000548830ENST00000495823ASH1Lchr1

155531944

-SLC28A3chr9

86909190

-

Top

FusionProtFeatures for ASH1L_SLC28A3


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

Q9NR48

SLC28A3

Q9HAS3

Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. Sodium-dependent, pyrimidine- and purine-selective.Involved in the homeostasis of endogenous nucleosides. Exhibitsthe transport characteristics of the nucleoside transport systemcib or N3 subtype (N3/cib) (with marked transport of boththymidine and inosine). Employs a 2:1 sodium/nucleoside ratio.Also able to transport gemcitabine, 3'-azido-3'-deoxythymidine(AZT), ribavirin and 3-deazauridine. {ECO:0000269|PubMed:11032837,ECO:0000269|PubMed:16446384, ECO:0000269|PubMed:17140564}.

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


Top

FusionGeneSequence for ASH1L_SLC28A3


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).

Top

FusionGenePPI for ASH1L_SLC28A3


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, CDX1SLC28A3


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


Top

RelatedDrugs for ASH1L_SLC28A3


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

Top

RelatedDiseases for ASH1L_SLC28A3


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