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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: 18623

FusionGeneSummary for KIAA0907_ASH1L

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0907_ASH1L
Fusion gene ID: 18623
HgeneTgene
Gene symbol

KIAA0907

ASH1L

Gene ID

55870

Gene nameASH1 like histone lysine methyltransferase
SynonymsASH1|ASH1L1|KMT2H|MRD52
Cytomap

1q22

Type of geneprotein-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 ASH1L
Modification date20180519
UniProtAcc

Q9NR48

Ensembl transtripts involved in fusion geneENST00000368321, ENST00000368320, 
ENST00000368319, ENST00000482337, 
ENST00000368346, ENST00000392403, 
ENST00000548830, 
Fusion gene scores* DoF score10 X 10 X 9=9009 X 8 X 5=360
# samples 129
** MAII scorelog2(12/900*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA0907 [Title/Abstract] AND ASH1L [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
TgeneASH1L

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
TCGALDPRADTCGA-VP-A87J-01AKIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
* 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-shiftENST00000368321ENST00000368346KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
Frame-shiftENST00000368321ENST00000392403KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
5CDS-intronENST00000368321ENST00000548830KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
Frame-shiftENST00000368320ENST00000368346KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
Frame-shiftENST00000368320ENST00000392403KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
5CDS-intronENST00000368320ENST00000548830KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
Frame-shiftENST00000368319ENST00000368346KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
Frame-shiftENST00000368319ENST00000392403KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
5CDS-intronENST00000368319ENST00000548830KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
5UTR-3CDSENST00000482337ENST00000368346KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
5UTR-3CDSENST00000482337ENST00000392403KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-
5UTR-intronENST00000482337ENST00000548830KIAA0907chr1

155903424

-ASH1Lchr1

155429689

-

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FusionProtFeatures for KIAA0907_ASH1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA0907

ASH1L

Q9NR48

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}.

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 KIAA0907_ASH1L


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 KIAA0907_ASH1L


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
KIAA0907U2AF2, PRPF19, CDC5L, EXOC3, RBM39, PUF60, SHMT2, MOV10, NXF1, ZDHHC17, STARD7, NECAP1, UBE2M, EWSR1, SERPINB5, CALML5, IGHG2, IGKC, SERPINB2, TYMP, S100A7, TRIM29, CALML3, TRIM25ASH1LHIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1


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 KIAA0907_ASH1L


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 KIAA0907_ASH1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneASH1LC0023903Liver neoplasms1CTD_human