	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 22074

FusionGeneSummary for MKL1_PBX1

Fusion gene summary

Fusion gene information	Fusion gene name: MKL1_PBX1
	Fusion gene ID: 22074
		Hgene	Tgene
	Gene symbol	MKL1	PBX1
	Gene ID	57591	5087
	Gene name	megakaryoblastic leukemia (translocation) 1	PBX homeobox 1
	Synonyms	BSAC\|MAL\|MKL\|MRTF-A	CAKUHED
	Cytomap	22q13.1-q13.2	1q23.3
	Type of gene	protein-coding	protein-coding
	Description	MKL/myocardin-like protein 1basic, SAP and coiled-coil domainmegakaryoblastic leukemia 1 proteinmegakaryocytic acute leukemia proteinmyocardin-related transcription factor A	pre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1
	Modification date	20180524	20180519
	UniProtAcc	Q969V6	P40424
	Ensembl transtripts involved in fusion gene	ENST00000355630, ENST00000396617, ENST00000402042, ENST00000466278, ENST00000407029, ENST00000402630,	ENST00000420696, ENST00000401534, ENST00000559240, ENST00000367897, ENST00000540236, ENST00000560641, ENST00000474046, ENST00000485769, ENST00000540246,
Fusion gene scores	* DoF score	19 X 11 X 13=2717	7 X 8 X 5=280
	# samples	26	11
	** MAII score	log2(26/2717*10)=-3.38543103719352 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/280*10)=-1.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MKL1 [Title/Abstract] AND PBX1 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	MKL1	GO:0010735	positive regulation of transcription via serum response element binding	24440334
Hgene	MKL1	GO:0045944	positive regulation of transcription by RNA polymerase II	14970199

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BF089740	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-3UTR	ENST00000355630	ENST00000420696	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000355630	ENST00000401534	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000355630	ENST00000559240	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000355630	ENST00000367897	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000355630	ENST00000540236	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000355630	ENST00000560641	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000355630	ENST00000474046	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000355630	ENST00000485769	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000355630	ENST00000540246	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-3UTR	ENST00000396617	ENST00000420696	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000396617	ENST00000401534	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000396617	ENST00000559240	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000396617	ENST00000367897	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000396617	ENST00000540236	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000396617	ENST00000560641	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000396617	ENST00000474046	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000396617	ENST00000485769	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000396617	ENST00000540246	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-3UTR	ENST00000402042	ENST00000420696	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402042	ENST00000401534	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402042	ENST00000559240	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402042	ENST00000367897	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402042	ENST00000540236	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402042	ENST00000560641	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402042	ENST00000474046	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402042	ENST00000485769	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402042	ENST00000540246	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-3UTR	ENST00000466278	ENST00000420696	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000466278	ENST00000401534	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000466278	ENST00000559240	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000466278	ENST00000367897	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000466278	ENST00000540236	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000466278	ENST00000560641	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000466278	ENST00000474046	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000466278	ENST00000485769	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000466278	ENST00000540246	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-3UTR	ENST00000407029	ENST00000420696	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000407029	ENST00000401534	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000407029	ENST00000559240	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000407029	ENST00000367897	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000407029	ENST00000540236	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000407029	ENST00000560641	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000407029	ENST00000474046	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000407029	ENST00000485769	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000407029	ENST00000540246	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-3UTR	ENST00000402630	ENST00000420696	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402630	ENST00000401534	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402630	ENST00000559240	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402630	ENST00000367897	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402630	ENST00000540236	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402630	ENST00000560641	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402630	ENST00000474046	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402630	ENST00000485769	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+
intron-intron	ENST00000402630	ENST00000540246	MKL1	chr22	40931066	+	PBX1	chr1	164820449	+

Top

FusionProtFeatures for MKL1_PBX1

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
MKL1 Q969V6	PBX1 P40424
Transcriptional coactivator of serum response factor(SRF) with the potential to modulate SRF target genes. SuppressesTNF-induced cell death by inhibiting activation of caspases; itstranscriptional activity is indispensable for the antiapoptoticfunction. It may up-regulate antiapoptotic molecules, which inturn inhibit caspase activation (By similarity). {ECO:0000250}.	Binds the sequence 5'-ATCAATCAA-3'. Acts as atranscriptional activator of PF4 in complex with MEIS1. Convertedinto a potent transcriptional activator by the (1;19)translocation. May have a role in steroidogenesis and,subsequently, sexual development and differentiation. IsoformPBX1b as part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinarcells is involved in the transcriptional activation of the ELA1enhancer; the complex binds to the enhancer B element andcooperates with the transcription factor 1 complex (PTF1) bound tothe enhancer A element. Probably in complex with MEIS2, isinvolved in transcriptional regulation by KLF4. Acts as atranscriptional activator of NKX2-5 and a transcriptionalrepressor of CDKN2B. Together with NKX2-5, it is required forspleen development through a mechanism that involves CDKN2Brepression (By similarity). {ECO:0000250,ECO:0000269\|PubMed:12609849, ECO:0000269\|PubMed:21746878}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Top

FusionGeneSequence for MKL1_PBX1

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 MKL1_PBX1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

RelatedDrugs for MKL1_PBX1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for MKL1_PBX1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	PBX1	C0006413	Burkitt Lymphoma	2	CTD_human
Tgene	PBX1	C0236969	Substance-Related Disorders	1	CTD_human

Home

Download

Statistics

Examples

Help

Contact

Fusion gene ID: 22074

FusionGeneSummary for MKL1_PBX1

FusionProtFeatures for MKL1_PBX1

FusionGeneSequence for MKL1_PBX1

FusionGenePPI for MKL1_PBX1

RelatedDrugs for MKL1_PBX1

RelatedDiseases for MKL1_PBX1