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: 19319

FusionGeneSummary for L3MBTL1_L3MBTL1

check button Fusion gene summary
Fusion gene informationFusion gene name: L3MBTL1_L3MBTL1
Fusion gene ID: 19319
HgeneTgene
Gene symbol

L3MBTL1

L3MBTL1

Gene ID

26013

26013

Gene nameL3MBTL1, histone methyl-lysine binding proteinL3MBTL1, histone methyl-lysine binding protein
SynonymsH-L(3)MBT|L3MBTL|ZC2HC3|dJ138B7.3H-L(3)MBT|L3MBTL|ZC2HC3|dJ138B7.3
Cytomap

20q13.12

20q13.12

Type of geneprotein-codingprotein-coding
Descriptionlethal(3)malignant brain tumor-like protein 1l(3)mbt protein homologl(3)mbt-like 1lethal (3) malignant brain tumor l(3)lethal(3)malignant brain tumor-like protein 1l(3)mbt protein homologl(3)mbt-like 1lethal (3) malignant brain tumor l(3)
Modification date2018051920180519
UniProtAcc

Q9Y468

Q9Y468

Ensembl transtripts involved in fusion geneENST00000427442, ENST00000418998, 
ENST00000444063, ENST00000373135, 
ENST00000373134, ENST00000457824, 
ENST00000427442, ENST00000418998, 
ENST00000444063, ENST00000373135, 
ENST00000373134, ENST00000457824, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 2=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: L3MBTL1 [Title/Abstract] AND L3MBTL1 [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
HgeneL3MBTL1

GO:0006325

chromatin organization

17540172

HgeneL3MBTL1

GO:0045652

regulation of megakaryocyte differentiation

18474616

HgeneL3MBTL1

GO:0045892

negative regulation of transcription, DNA-templated

17540172|18408754|18474616

TgeneL3MBTL1

GO:0006325

chromatin organization

17540172

TgeneL3MBTL1

GO:0045652

regulation of megakaryocyte differentiation

18474616

TgeneL3MBTL1

GO:0045892

negative regulation of transcription, DNA-templated

17540172|18408754|18474616


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
ChiTaRS3.1BX489833L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
* 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
intron-intronENST00000427442ENST00000427442L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000427442ENST00000418998L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000427442ENST00000444063L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000427442ENST00000373135L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000427442ENST00000373134L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000427442ENST00000457824L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000418998ENST00000427442L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000418998ENST00000418998L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000418998ENST00000444063L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000418998ENST00000373135L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000418998ENST00000373134L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000418998ENST00000457824L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000444063ENST00000427442L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000444063ENST00000418998L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000444063ENST00000444063L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000444063ENST00000373135L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000444063ENST00000373134L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000444063ENST00000457824L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373135ENST00000427442L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373135ENST00000418998L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373135ENST00000444063L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373135ENST00000373135L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373135ENST00000373134L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373135ENST00000457824L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373134ENST00000427442L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373134ENST00000418998L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373134ENST00000444063L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373134ENST00000373135L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373134ENST00000373134L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000373134ENST00000457824L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000457824ENST00000427442L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000457824ENST00000418998L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000457824ENST00000444063L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000457824ENST00000373135L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000457824ENST00000373134L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+
intron-intronENST00000457824ENST00000457824L3MBTL1chr20

42146646

-L3MBTL1chr20

42146445

+

Top

FusionProtFeatures for L3MBTL1_L3MBTL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
L3MBTL1

Q9Y468

L3MBTL1

Q9Y468


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 L3MBTL1_L3MBTL1


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 L3MBTL1_L3MBTL1


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


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 L3MBTL1_L3MBTL1


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 L3MBTL1_L3MBTL1


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