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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: 14445

FusionGeneSummary for GATAD2B_ASH1L

check button Fusion gene summary
Fusion gene informationFusion gene name: GATAD2B_ASH1L
Fusion gene ID: 14445
HgeneTgene
Gene symbol

GATAD2B

ASH1L

Gene ID

57459

55870

Gene nameGATA zinc finger domain containing 2BASH1 like histone lysine methyltransferase
SynonymsMRD18|P66beta|p68ASH1|ASH1L1|KMT2H|MRD52
Cytomap

1q21.3

1q22

Type of geneprotein-codingprotein-coding
Descriptiontranscriptional repressor p66-betaGATA zinc finger domain-containing protein 2Btranscription repressor p66 beta component of the MeCP1 complexhistone-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 date2018052320180519
UniProtAcc

Q8WXI9

Q9NR48

Ensembl transtripts involved in fusion geneENST00000368655, ENST00000368346, 
ENST00000392403, ENST00000548830, 
Fusion gene scores* DoF score23 X 6 X 12=16569 X 8 X 5=360
# samples 259
** MAII scorelog2(25/1656*10)=-2.72770267283724
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: GATAD2B [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
TCGARVLUADTCGA-97-A4M3-01AGATAD2Bchr1

153895209

-ASH1Lchr1

155349907

-
* 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-3CDSENST00000368655ENST00000368346GATAD2Bchr1

153895209

-ASH1Lchr1

155349907

-
5UTR-3CDSENST00000368655ENST00000392403GATAD2Bchr1

153895209

-ASH1Lchr1

155349907

-
5UTR-intronENST00000368655ENST00000548830GATAD2Bchr1

153895209

-ASH1Lchr1

155349907

-

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FusionProtFeatures for GATAD2B_ASH1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GATAD2B

Q8WXI9

ASH1L

Q9NR48

Transcriptional repressor. Enhances MBD2-mediatedrepression. Efficient repression requires the presence of GATAD2A.Targets MBD3 to discrete loci in the nucleus. May play a role insynapse development. {ECO:0000269|PubMed:12183469,ECO:0000269|PubMed:16415179}. 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 GATAD2B_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 GATAD2B_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
GATAD2BMBD2, MBD3, RBBP7, RBBP4, MTA2, HDAC1, HDAC2, FOXP1, FOXP2, HIST2H2AC, HIST2H2BE, HIST1H3A, HIST1H4A, PARK7, CHD4, SOX2, MTA1, NDUFA2, NDUFA7, NOTCH1, MTA3, SMAD2, ZBTB1, PRKAB2, GOLGA2, TRIM27, TRAF1, CALCOCO2, TEX11, RPGRIP1, CEP70, USHBP1, BRCA1, SUZ12, EED, RNF2, SUMO2, SIRT6, ZNF219, PHF20L1, CHD3, CHD5, KPNA5, CDK2AP1, ZBTB33, MBD3L1, ZBTB46, NTRK1, GATAD2A, RBPMS, HIST1H3E, KPNA1, TCF20, HMG20A, ZMYND8, NFATC1, FOXC1, FOXG1, FOXJ2, FOXQ1, FOXS1, NFATC2, CPNE5, ZBED1, TXNIP, MAGEE1, FAM219A, L3MBTL2, QPRT, TCF19, IKZF1, IKZF3, CROT, CDC16, PSME3, NCAPH2, MTNR1A, TRIM25, UHRF2, ZNF827ASH1LHIST1H3A, 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 GATAD2B_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 GATAD2B_ASH1L


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