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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: 22144

FusionGeneSummary for MLLT10_CACNA2D3

check button Fusion gene summary
Fusion gene informationFusion gene name: MLLT10_CACNA2D3
Fusion gene ID: 22144
HgeneTgene
Gene symbol

MLLT10

CACNA2D3

Gene ID

8028

55799

Gene nameMLLT10, histone lysine methyltransferase DOT1L cofactorcalcium voltage-gated channel auxiliary subunit alpha2delta 3
SynonymsAF10HSA272268
Cytomap

10p12.31

3p21.1-p14.3

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 protvoltage-dependent calcium channel subunit alpha-2/delta-3calcium channel alpha2-delta3 subunitcalcium channel, voltage-dependent, alpha 2/delta 3 subunitcalcium channel, voltage-dependent, alpha 2/delta subunit 3voltage-gated calcium channel subunit a
Modification date2018052220180522
UniProtAcc

P55197

Q8IZS8

Ensembl transtripts involved in fusion geneENST00000446906, ENST00000377072, 
ENST00000307729, ENST00000377059, 
ENST00000495130, ENST00000377100, 
ENST00000377091, 
ENST00000415676, 
ENST00000288197, ENST00000474759, 
ENST00000490478, ENST00000478261, 
Fusion gene scores* DoF score13 X 10 X 8=104011 X 9 X 7=693
# samples 2011
** MAII scorelog2(20/1040*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/693*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MLLT10 [Title/Abstract] AND CACNA2D3 [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
ChiTaRS3.1BU674264MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
* 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-intronENST00000446906ENST00000415676MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000446906ENST00000288197MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000446906ENST00000474759MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000446906ENST00000490478MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000446906ENST00000478261MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377072ENST00000415676MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377072ENST00000288197MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377072ENST00000474759MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377072ENST00000490478MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377072ENST00000478261MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000307729ENST00000415676MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000307729ENST00000288197MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000307729ENST00000474759MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000307729ENST00000490478MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000307729ENST00000478261MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377059ENST00000415676MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377059ENST00000288197MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377059ENST00000474759MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377059ENST00000490478MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000377059ENST00000478261MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000495130ENST00000415676MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000495130ENST00000288197MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000495130ENST00000474759MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000495130ENST00000490478MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
intron-intronENST00000495130ENST00000478261MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
5CDS-intronENST00000377100ENST00000415676MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
5CDS-intronENST00000377100ENST00000288197MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
5CDS-intronENST00000377100ENST00000474759MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
5CDS-intronENST00000377100ENST00000490478MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
5CDS-intronENST00000377100ENST00000478261MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
3UTR-intronENST00000377091ENST00000415676MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
3UTR-intronENST00000377091ENST00000288197MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
3UTR-intronENST00000377091ENST00000474759MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
3UTR-intronENST00000377091ENST00000490478MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+
3UTR-intronENST00000377091ENST00000478261MLLT10chr10

21845858

-CACNA2D3chr3

54660646

+

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FusionProtFeatures for MLLT10_CACNA2D3


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

P55197

CACNA2D3

Q8IZS8

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}. The alpha-2/delta subunit of voltage-dependent calciumchannels regulates calcium current density andactivation/inactivation kinetics of the calcium channel. Acts as aregulatory subunit for P/Q-type calcium channel (CACNA1A), N-type(CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G)(By similarity). {ECO:0000250}.

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_CACNA2D3


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_CACNA2D3


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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RelatedDrugs for MLLT10_CACNA2D3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCACNA2D3Q8IZS8DB00381AmlodipineVoltage-dependent calcium channel subunit alpha-2/delta-3small moleculeapproved
TgeneCACNA2D3Q8IZS8DB06712NilvadipineVoltage-dependent calcium channel subunit alpha-2/delta-3small moleculeapproved|investigational

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RelatedDiseases for MLLT10_CACNA2D3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMLLT10C0007134Renal Cell Carcinoma1CTD_human
HgeneMLLT10C0025202melanoma1CTD_human
HgeneMLLT10C0025286Meningioma1CTD_human