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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: 22146

FusionGeneSummary for MLLT10_KCNJ6

check button Fusion gene summary
Fusion gene informationFusion gene name: MLLT10_KCNJ6
Fusion gene ID: 22146
HgeneTgene
Gene symbol

MLLT10

KCNJ6

Gene ID

8028

3763

Gene nameMLLT10, histone lysine methyltransferase DOT1L cofactorpotassium voltage-gated channel subfamily J member 6
SynonymsAF10BIR1|GIRK-2|GIRK2|KATP-2|KATP2|KCNJ7|KIR3.2|KPLBS|hiGIRK2
Cytomap

10p12.31

21q22.13

Type of geneprotein-codingprotein-coding
Descriptionprotein AF-10ALL1-fused gene from chromosome 10 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10type I AF10 proteintype III AF10 protG protein-activated inward rectifier potassium channel 2inward rectifier K(+) channel Kir3.2inward rectifier potassium channel KIR3.2potassium channel, inwardly rectifying subfamily J, member 6
Modification date2018052220180523
UniProtAcc

P55197

P48051

Ensembl transtripts involved in fusion geneENST00000446906, ENST00000377072, 
ENST00000307729, ENST00000377059, 
ENST00000495130, ENST00000377100, 
ENST00000377091, 
ENST00000609713, 
ENST00000288309, 
Fusion gene scores* DoF score13 X 10 X 8=10407 X 4 X 5=140
# samples 207
** MAII scorelog2(20/1040*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MLLT10 [Title/Abstract] AND KCNJ6 [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
HgeneMLLT10

GO:0045944

positive regulation of transcription by RNA polymerase II

17868029


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-O1-A52J-01AMLLT10chr10

21827841

+KCNJ6chr21

39087434

-
* 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-shitENST00000446906ENST00000609713MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000446906ENST00000288309MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000377072ENST00000609713MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000377072ENST00000288309MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000307729ENST00000609713MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000307729ENST00000288309MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000377059ENST00000609713MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000377059ENST00000288309MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
3UTR-3CDSENST00000495130ENST00000609713MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
3UTR-3CDSENST00000495130ENST00000288309MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000377100ENST00000609713MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000377100ENST00000288309MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000377091ENST00000609713MLLT10chr10

21827841

+KCNJ6chr21

39087434

-
Frame-shitENST00000377091ENST00000288309MLLT10chr10

21827841

+KCNJ6chr21

39087434

-

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FusionProtFeatures for MLLT10_KCNJ6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MLLT10

P55197

KCNJ6

P48051

Probably involved in transcriptional regulation. Invitro or as fusion protein with KMT2A/MLL1 has transactivationactivity. Binds to cruciform DNA. In cells, binding to unmodifiedhistone H3 regulates DOT1L functions including histone H3 'Lys-79'dimethylation (H3K79me2) and gene activation (PubMed:26439302).{ECO:0000269|PubMed:17868029, ECO:0000269|PubMed:26439302}. This potassium channel may be involved in the regulationof insulin secretion by glucose and/or neurotransmitters actingthrough G-protein-coupled receptors. Inward rectifier potassiumchannels are characterized by a greater tendency to allowpotassium to flow into the cell rather than out of it. Theirvoltage dependence is regulated by the concentration ofextracellular potassium; as external potassium is raised, thevoltage range of the channel opening shifts to more positivevoltages. The inward rectification is mainly due to the blockageof outward current by internal magnesium.

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 MLLT10_KCNJ6


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 MLLT10_KCNJ6


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
MLLT10YEATS4, SMARCB1, SS18, MLLT10, DOT1L, MLLT1, MLLT3, AFF1, DISC1, NDEL1, ELAVL1, CENPJ, TMPO, ZNF526, MLLT6, TCP10L, KIF6, PMF1KCNJ6DLG1, KCNJ9, DRD2, BIRC5, GABBR1, MB21D2, C4orf27, FAM118B, RARG, C1orf43, UFSP2, LRRC1, HSDL1


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 MLLT10_KCNJ6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneKCNJ6P48051DB00898EthanolG protein-activated inward rectifier potassium channel 2small moleculeapproved
TgeneKCNJ6P48051DB11633IsavuconazoleG protein-activated inward rectifier potassium channel 2small moleculeapproved|investigational
TgeneKCNJ6P48051DB01159HalothaneG protein-activated inward rectifier potassium channel 2small moleculeapproved|vet_approved

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RelatedDiseases for MLLT10_KCNJ6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMLLT10C0007134Renal Cell Carcinoma1CTD_human
HgeneMLLT10C0025202melanoma1CTD_human
HgeneMLLT10C0025286Meningioma1CTD_human
TgeneKCNJ6C0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneKCNJ6C0011570Mental Depression2PSYGENET
TgeneKCNJ6C0011581Depressive disorder2PSYGENET
TgeneKCNJ6C0027746Nerve Degeneration1CTD_human
TgeneKCNJ6C3279800KEPPEN-LUBINSKY SYNDROME1ORPHANET;UNIPROT