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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: 22084

FusionGeneSummary for MKL2_CACNA1H

check button Fusion gene summary
Fusion gene informationFusion gene name: MKL2_CACNA1H
Fusion gene ID: 22084
HgeneTgene
Gene symbol

MKL2

CACNA1H

Gene ID

57496

8912

Gene nameMKL1/myocardin like 2calcium voltage-gated channel subunit alpha1 H
SynonymsMRTF-B|MRTFB|NPD001CACNA1HB|Cav3.2|ECA6|EIG6|HALD4
Cytomap

16p13.12

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionMKL/myocardin-like protein 2CTA-276F8.1MKL and myocardin family member 2MKL/myocardin like 2megakaryoblastic leukemia 2myocardin-related transcription factor Bvoltage-dependent T-type calcium channel subunit alpha-1Hcalcium channel, voltage-dependent, T type, alpha 1H subunitcalcium channel, voltage-dependent, T type, alpha 1Hb subunitlow-voltage-activated calcium channel alpha1 3.2 subunitlow-voltage-activ
Modification date2018052320180523
UniProtAcc

Q9ULH7

O95180

Ensembl transtripts involved in fusion geneENST00000571589, ENST00000574045, 
ENST00000318282, ENST00000572567, 
ENST00000341243, ENST00000575537, 
ENST00000573051, 
ENST00000348261, 
ENST00000358590, ENST00000565831, 
Fusion gene scores* DoF score12 X 6 X 7=5043 X 3 X 2=18
# samples 114
** MAII scorelog2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MKL2 [Title/Abstract] AND CACNA1H [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
HgeneMKL2

GO:0045844

positive regulation of striated muscle tissue development

14565952

HgeneMKL2

GO:0045944

positive regulation of transcription by RNA polymerase II

14565952

TgeneCACNA1H

GO:0042391

regulation of membrane potential

21084288

TgeneCACNA1H

GO:0070509

calcium ion import

21084288

TgeneCACNA1H

GO:0098662

inorganic cation transmembrane transport

27149520


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
TCGARVBRCATCGA-E9-A22A-01AMKL2chr16

14234617

+CACNA1Hchr16

1250256

+
* 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-shiftENST00000571589ENST00000348261MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
Frame-shiftENST00000571589ENST00000358590MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
Frame-shiftENST00000571589ENST00000565831MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
Frame-shiftENST00000574045ENST00000348261MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
Frame-shiftENST00000574045ENST00000358590MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
Frame-shiftENST00000574045ENST00000565831MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
Frame-shiftENST00000318282ENST00000348261MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
Frame-shiftENST00000318282ENST00000358590MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
Frame-shiftENST00000318282ENST00000565831MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
intron-3CDSENST00000572567ENST00000348261MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
intron-3CDSENST00000572567ENST00000358590MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
intron-3CDSENST00000572567ENST00000565831MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
intron-3CDSENST00000341243ENST00000348261MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
intron-3CDSENST00000341243ENST00000358590MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
intron-3CDSENST00000341243ENST00000565831MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
3UTR-3CDSENST00000575537ENST00000348261MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
3UTR-3CDSENST00000575537ENST00000358590MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
3UTR-3CDSENST00000575537ENST00000565831MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
intron-3CDSENST00000573051ENST00000348261MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
intron-3CDSENST00000573051ENST00000358590MKL2chr16

14234617

+CACNA1Hchr16

1250256

+
intron-3CDSENST00000573051ENST00000565831MKL2chr16

14234617

+CACNA1Hchr16

1250256

+

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FusionProtFeatures for MKL2_CACNA1H


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MKL2

Q9ULH7

CACNA1H

O95180

Acts as a transcriptional coactivator of serum responsefactor (SRF). Required for skeletal myogenic differentiation.{ECO:0000269|PubMed:14565952}.

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 MKL2_CACNA1H


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 MKL2_CACNA1H


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
MKL2SRF, MKL2, MKL1, KDM3A, SVIL, SMAD7, SMAD1, HUWE1, NCOA3, FHL3, XPO1, CDH1, BCL7ACACNA1HKDM5B, KLHL1, MAPK15, GAN, USP5


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 MKL2_CACNA1H


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCACNA1HO95180DB01115NifedipineVoltage-dependent T-type calcium channel subunit alpha-1Hsmall moleculeapproved
TgeneCACNA1HO95180DB04841FlunarizineVoltage-dependent T-type calcium channel subunit alpha-1Hsmall moleculeapproved
TgeneCACNA1HO95180DB00270IsradipineVoltage-dependent T-type calcium channel subunit alpha-1Hsmall moleculeapproved|investigational
TgeneCACNA1HO95180DB00568CinnarizineVoltage-dependent T-type calcium channel subunit alpha-1Hsmall moleculeapproved|investigational
TgeneCACNA1HO95180DB00909ZonisamideVoltage-dependent T-type calcium channel subunit alpha-1Hsmall moleculeapproved|investigational
TgeneCACNA1HO95180DB01023FelodipineVoltage-dependent T-type calcium channel subunit alpha-1Hsmall moleculeapproved|investigational
TgeneCACNA1HO95180DB01054NitrendipineVoltage-dependent T-type calcium channel subunit alpha-1Hsmall moleculeapproved|investigational
TgeneCACNA1HO95180DB01118AmiodaroneVoltage-dependent T-type calcium channel subunit alpha-1Hsmall moleculeapproved|investigational
TgeneCACNA1HO95180DB01244BepridilVoltage-dependent T-type calcium channel subunit alpha-1Hsmall moleculeapproved|withdrawn

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RelatedDiseases for MKL2_CACNA1H


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMKL2C0008074Child Development Disorders, Pervasive1CTD_human
TgeneCACNA1HC2749872EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 62UNIPROT
TgeneCACNA1HC0004352Autistic Disorder1CTD_human
TgeneCACNA1HC0020429Hyperalgesia1CTD_human