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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:MLLT4-KCNAB1 (FusionGDB2 ID:53987)

Fusion Gene Summary for MLLT4-KCNAB1

check button Fusion gene summary
Fusion gene informationFusion gene name: MLLT4-KCNAB1
Fusion gene ID: 53987
HgeneTgene
Gene symbol

MLLT4

KCNAB1

Gene ID

4301

7881

Gene nameafadin, adherens junction formation factorpotassium voltage-gated channel subfamily A member regulatory beta subunit 1
SynonymsAF6|MLL-AF6|MLLT4|l-afadinAKR6A3|KCNA1B|KV-BETA-1|Kvb1.3|hKvBeta3|hKvb3
Cytomap

6q27

3q25.31

Type of geneprotein-codingprotein-coding
DescriptionafadinALL1-fused gene from chromosome 6 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4protein AF-6voltage-gated potassium channel subunit beta-1K(+) channel subunit beta-1K+ channel Beta1a chainpotassium channel beta 3 chainpotassium channel beta3 subunitpotassium channel shaker chain beta 1apotassium channel, voltage gated subfamily A regulator
Modification date2020032220200313
UniProtAcc.

Q14722

Ensembl transtripts involved in fusion geneENST00000344191, ENST00000351017, 
ENST00000392108, ENST00000392112, 
ENST00000366806, ENST00000447894, 
ENST00000400822, ENST00000507679, 
ENST00000490337, ENST00000389636, 
ENST00000471742, ENST00000302490, 
ENST00000389634, ENST00000497291, 
Fusion gene scores* DoF score15 X 7 X 10=105013 X 10 X 6=780
# samples 1614
** MAII scorelog2(16/1050*10)=-2.71424551766612
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/780*10)=-2.47804729680464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MLLT4 [Title/Abstract] AND KCNAB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMLLT4(168227917)-KCNAB1(156232153), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneKCNAB1

GO:1901379

regulation of potassium ion transmembrane transport

7890032


check buttonFusion gene breakpoints across MLLT4 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KCNAB1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-HN-A2NLMLLT4chr6

168227917

+KCNAB1chr3

156232152

+
ChimerDB4BRCATCGA-HN-A2NL-01AMLLT4chr6

168227917

+KCNAB1chr3

156232153

+
ChimerDB4BRCATCGA-HN-A2NL-01AMLLT4chr6

168227917

-KCNAB1chr3

156232153

+


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Fusion Gene ORF analysis for MLLT4-KCNAB1

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-shiftENST00000344191ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000344191ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000344191ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000344191ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000344191ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
5CDS-3UTRENST00000344191ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000351017ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000351017ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000351017ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000351017ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000351017ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
5CDS-3UTRENST00000351017ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392108ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392108ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392108ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392108ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392108ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
5CDS-3UTRENST00000392108ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392112ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392112ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392112ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392112ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000392112ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
5CDS-3UTRENST00000392112ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000366806ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000366806ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000366806ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000366806ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000366806ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
5CDS-3UTRENST00000366806ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000447894ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000447894ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000447894ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000447894ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000447894ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
5CDS-3UTRENST00000447894ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000400822ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000400822ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000400822ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000400822ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000400822ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
5CDS-3UTRENST00000400822ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
intron-3CDSENST00000507679ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
intron-3CDSENST00000507679ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
intron-3CDSENST00000507679ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
intron-3CDSENST00000507679ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
intron-3CDSENST00000507679ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
intron-3UTRENST00000507679ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232152

+
Frame-shiftENST00000344191ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000344191ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000344191ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000344191ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000344191ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
5CDS-3UTRENST00000344191ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000351017ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000351017ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000351017ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000351017ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000351017ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
5CDS-3UTRENST00000351017ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392108ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392108ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392108ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392108ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392108ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
5CDS-3UTRENST00000392108ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392112ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392112ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392112ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392112ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000392112ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
5CDS-3UTRENST00000392112ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000366806ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000366806ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000366806ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000366806ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000366806ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
5CDS-3UTRENST00000366806ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000447894ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000447894ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000447894ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000447894ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000447894ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
5CDS-3UTRENST00000447894ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000400822ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000400822ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000400822ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000400822ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
Frame-shiftENST00000400822ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
5CDS-3UTRENST00000400822ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
intron-3CDSENST00000507679ENST00000490337MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
intron-3CDSENST00000507679ENST00000389636MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
intron-3CDSENST00000507679ENST00000471742MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
intron-3CDSENST00000507679ENST00000302490MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
intron-3CDSENST00000507679ENST00000389634MLLT4chr6

168227917

+KCNAB1chr3

156232153

+
intron-3UTRENST00000507679ENST00000497291MLLT4chr6

168227917

+KCNAB1chr3

156232153

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for MLLT4-KCNAB1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for MLLT4-KCNAB1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.KCNAB1

Q14722

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Cytoplasmic potassium channel subunit that modulates the characteristics of the channel-forming alpha-subunits (PubMed:7499366, PubMed:7603988, PubMed:17156368,PubMed:17540341, PubMed:19713757). Modulates action potentials via its effect on the pore-forming alpha subunits (By similarity). Promotes expression of the pore-forming alpha subunits at the cell membrane, and thereby increases channel activity (By similarity). Mediates closure of delayed rectifier potassium channels by physically obstructing the pore via its N-terminal domain and increases the speed of channel closure for other family members (PubMed:9763623). Promotes the closure of KCNA1, KCNA2 and KCNA5 channels (PubMed:7499366, PubMed:7890032, PubMed:7603988, PubMed:7649300, PubMed:8938711, PubMed:12077175, PubMed:12130714, PubMed:15361858, PubMed:17540341, PubMed:19713757). Accelerates KCNA4 channel closure (PubMed:7890032, PubMed:7649300, PubMed:7890764, PubMed:9763623). Accelerates the closure of heteromeric channels formed by KCNA1 and KCNA4 (PubMed:17156368). Accelerates the closure of heteromeric channels formed by KCNA2, KCNA5 and KCNA6 (By similarity). Isoform KvB1.2 has no effect on KCNA1, KCNA2 or KCNB1 (PubMed:7890032, PubMed:7890764). Enhances KCNB1 and KCNB2 channel activity (By similarity). Binds NADPH; this is required for efficient down-regulation of potassium channel activity (PubMed:17540341). Has NADPH-dependent aldoketoreductase activity (By similarity). Oxidation of the bound NADPH strongly decreases N-type inactivation of potassium channel activity (By similarity). {ECO:0000250|UniProtKB:P63143, ECO:0000250|UniProtKB:P63144, ECO:0000269|PubMed:12077175, ECO:0000269|PubMed:12130714, ECO:0000269|PubMed:15361858, ECO:0000269|PubMed:17156368, ECO:0000269|PubMed:17540341, ECO:0000269|PubMed:19713757, ECO:0000269|PubMed:7499366, ECO:0000269|PubMed:7603988, ECO:0000269|PubMed:7649300, ECO:0000269|PubMed:7890032, ECO:0000269|PubMed:7890764, ECO:0000269|PubMed:8938711, ECO:0000269|PubMed:9763623, ECO:0000305}.

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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Fusion Gene Sequence for MLLT4-KCNAB1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for MLLT4-KCNAB1


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


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Related Drugs for MLLT4-KCNAB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for MLLT4-KCNAB1


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