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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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RelatedDiseases

Fusion gene ID: 602

FusionGeneSummary for ACTN4_RYR1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTN4_RYR1
Fusion gene ID: 602
HgeneTgene
Gene symbol

ACTN4

RYR1

Gene ID

81

6261

Gene nameactinin alpha 4ryanodine receptor 1
SynonymsACTININ-4|FSGS|FSGS1CCO|MHS|MHS1|PPP1R137|RYDR|RYR|RYR-1|SKRR
Cytomap

19q13.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionalpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4ryanodine receptor 1central core disease of muscleprotein phosphatase 1, regulatory subunit 137ryanodine receptor 1 (skeletal)sarcoplasmic reticulum calcium release channelskeletal muscle calcium release channelskeletal muscle ryanodine receptortyp
Modification date2018052220180523
UniProtAcc

O43707

P21817

Ensembl transtripts involved in fusion geneENST00000252699, ENST00000424234, 
ENST00000390009, ENST00000497637, 
ENST00000355481, ENST00000360985, 
ENST00000359596, 
Fusion gene scores* DoF score28 X 17 X 13=61888 X 6 X 5=240
# samples 308
** MAII scorelog2(30/6188*10)=-4.36643879095316
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTN4 [Title/Abstract] AND RYR1 [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
HgeneACTN4

GO:0035357

peroxisome proliferator activated receptor signaling pathway

22351778

HgeneACTN4

GO:0048384

retinoic acid receptor signaling pathway

22351778

HgeneACTN4

GO:0051272

positive regulation of cellular component movement

9508771

TgeneRYR1

GO:0001666

response to hypoxia

19120137


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
TCGARVLIHCTCGA-ED-A7PX-01AACTN4chr19

39138547

+RYR1chr19

39051753

+
* 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
In-frameENST00000252699ENST00000355481ACTN4chr19

39138547

+RYR1chr19

39051753

+
In-frameENST00000252699ENST00000360985ACTN4chr19

39138547

+RYR1chr19

39051753

+
In-frameENST00000252699ENST00000359596ACTN4chr19

39138547

+RYR1chr19

39051753

+
In-frameENST00000424234ENST00000355481ACTN4chr19

39138547

+RYR1chr19

39051753

+
In-frameENST00000424234ENST00000360985ACTN4chr19

39138547

+RYR1chr19

39051753

+
In-frameENST00000424234ENST00000359596ACTN4chr19

39138547

+RYR1chr19

39051753

+
In-frameENST00000390009ENST00000355481ACTN4chr19

39138547

+RYR1chr19

39051753

+
In-frameENST00000390009ENST00000360985ACTN4chr19

39138547

+RYR1chr19

39051753

+
In-frameENST00000390009ENST00000359596ACTN4chr19

39138547

+RYR1chr19

39051753

+
intron-3CDSENST00000497637ENST00000355481ACTN4chr19

39138547

+RYR1chr19

39051753

+
intron-3CDSENST00000497637ENST00000360985ACTN4chr19

39138547

+RYR1chr19

39051753

+
intron-3CDSENST00000497637ENST00000359596ACTN4chr19

39138547

+RYR1chr19

39051753

+

Top

FusionProtFeatures for ACTN4_RYR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACTN4

O43707

RYR1

P21817

F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein (Probable). Probably involved in vesicular trafficking viaits association with the CART complex. The CART complex isnecessary for efficient transferrin receptor recycling but not forEGFR degradation (PubMed:15772161). Involved in tight junctionassembly in epithelial cells probably through interaction withMICALL2. Links MICALL2 to the actin cytoskeleton and recruits itto the tight junctions (By similarity). May also function as atranscriptional coactivator, stimulating transcription mediated bythe nuclear hormone receptors PPARG and RARA (PubMed:22351778).{ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161,ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}. Calcium channel that mediates the release of Ca(2+) fromthe sarcoplasmic reticulum into the cytoplasm and thereby plays akey role in triggering muscle contraction following depolarizationof T-tubules (PubMed:11741831, PubMed:16163667). Repeated veryhigh-level exercise increases the open probability of the channeland leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335).Can also mediate the release of Ca(2+) from intracellular storesin neurons, and may thereby promote prolonged Ca(2+) signaling inthe brain. Required for normal embryonic development of musclefibers and skeletal muscle. Required for normal heartmorphogenesis, skin development and ossification duringembryogenesis (By similarity). {ECO:0000250|UniProtKB:E9PZQ0,ECO:0000269|PubMed:18268335, ECO:0000305|PubMed:11741831,ECO:0000305|PubMed:16163667}.

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
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+12119_2654912Compositional biasPoly-Gly
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+11419_2654693Compositional biasPoly-Gly
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054462_453240895034Compositional biasNote=Pro-rich
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064462_453240945039Compositional biasNote=Pro-rich
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054462_453240895034Compositional biasNote=Pro-rich
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054881_490040895034IntramembranePore-forming
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064881_490040945039IntramembranePore-forming
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054881_490040895034IntramembranePore-forming
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054895_490140895034MotifSelectivity filter
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064895_490140945039MotifSelectivity filter
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054895_490140895034MotifSelectivity filter
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054210_421440895034Nucleotide bindingATP
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054955_496040895034Nucleotide bindingATP
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054980_498640895034Nucleotide bindingATP
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064210_421440945039Nucleotide bindingATP
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064955_496040945039Nucleotide bindingATP
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064980_498640945039Nucleotide bindingATP
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054210_421440895034Nucleotide bindingATP
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054955_496040895034Nucleotide bindingATP
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054980_498640895034Nucleotide bindingATP
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054581_464140895034Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054663_478040895034Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054804_480440895034Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054822_483640895034Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054858_488040895034Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054901_492040895034Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054942_503840895034Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064581_464140945039Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064663_478040945039Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064804_480440945039Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064822_483640945039Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064858_488040945039Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064901_492040945039Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064942_503840945039Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054581_464140895034Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054663_478040895034Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054804_480440895034Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054822_483640895034Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054858_488040895034Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054901_492040895034Topological domainLumenal
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054942_503840895034Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054560_458040895034TransmembraneHelical%3B Name%3D1
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054642_466240895034TransmembraneHelical%3B Name%3D2
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054781_480340895034TransmembraneHelical%3B Name%3D3
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054805_482140895034TransmembraneHelical%3B Name%3D4
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054837_485740895034TransmembraneHelical%3B Name%3D5
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054921_494140895034TransmembraneHelical%3B Name%3D6
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064560_458040945039TransmembraneHelical%3B Name%3D1
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064642_466240945039TransmembraneHelical%3B Name%3D2
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064781_480340945039TransmembraneHelical%3B Name%3D3
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064805_482140945039TransmembraneHelical%3B Name%3D4
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064837_485740945039TransmembraneHelical%3B Name%3D5
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064921_494140945039TransmembraneHelical%3B Name%3D6
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054560_458040895034TransmembraneHelical%3B Name%3D1
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054642_466240895034TransmembraneHelical%3B Name%3D2
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054781_480340895034TransmembraneHelical%3B Name%3D3
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054805_482140895034TransmembraneHelical%3B Name%3D4
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054837_485740895034TransmembraneHelical%3B Name%3D5
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054921_494140895034TransmembraneHelical%3B Name%3D6

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121778_78954912Calcium binding1
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121819_83054912Calcium binding2
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114778_78954693Calcium binding1
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114819_83054693Calcium binding2
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121163_26954912DomainCalponin-homology (CH) 2
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+12150_15454912DomainCalponin-homology (CH) 1
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121765_80054912DomainEF-hand 1
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121806_84154912DomainEF-hand 2
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114163_26954693DomainCalponin-homology (CH) 2
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+11450_15454693DomainCalponin-homology (CH) 1
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114765_80054693DomainEF-hand 1
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114806_84154693DomainEF-hand 2
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+12184_8854912MotifLXXLL motif
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+11484_8854693MotifLXXLL motif
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121177_19254912RegionPolyphosphoinositide (PIP2)-binding
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+1211_26954912RegionNote=Actin-binding
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114177_19254693RegionPolyphosphoinositide (PIP2)-binding
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+1141_26954693RegionNote=Actin-binding
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121293_40354912RepeatSpectrin 1
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121413_51854912RepeatSpectrin 2
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121528_63954912RepeatSpectrin 3
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121649_75254912RepeatSpectrin 4
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114293_40354693RepeatSpectrin 1
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114413_51854693RepeatSpectrin 2
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114528_63954693RepeatSpectrin 3
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114649_75254693RepeatSpectrin 4
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871051873_192440895034Compositional biasNote=Glu-rich (acidic)
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881061873_192440945039Compositional biasNote=Glu-rich (acidic)
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871051873_192440895034Compositional biasNote=Glu-rich (acidic)
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871051013_120840895034DomainB30.2/SPRY 2
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871051356_157040895034DomainB30.2/SPRY 3
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+87105159_20440895034DomainMIR 2
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+87105210_26440895034DomainMIR 3
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+87105270_32740895034DomainMIR 4
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+87105335_39240895034DomainMIR 5
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871054074_410240895034DomainEF-hand
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+87105581_79740895034DomainB30.2/SPRY 1
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+8710597_15240895034DomainMIR 1
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881061013_120840945039DomainB30.2/SPRY 2
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881061356_157040945039DomainB30.2/SPRY 3
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+88106159_20440945039DomainMIR 2
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+88106210_26440945039DomainMIR 3
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+88106270_32740945039DomainMIR 4
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+88106335_39240945039DomainMIR 5
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881064074_410240945039DomainEF-hand
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+88106581_79740945039DomainB30.2/SPRY 1
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+8810697_15240945039DomainMIR 1
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871051013_120840895034DomainB30.2/SPRY 2
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871051356_157040895034DomainB30.2/SPRY 3
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+87105159_20440895034DomainMIR 2
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+87105210_26440895034DomainMIR 3
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+87105270_32740895034DomainMIR 4
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+87105335_39240895034DomainMIR 5
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871054074_410240895034DomainEF-hand
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+87105581_79740895034DomainB30.2/SPRY 1
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+8710597_15240895034DomainMIR 1
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+87105841_295940895034RegionNote=6 X approximate repeats
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+88106841_295940945039RegionNote=6 X approximate repeats
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+87105841_295940895034RegionNote=6 X approximate repeats
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871051344_135940895034RepeatNote=3%3B truncated
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871051372_138740895034RepeatNote=4%3B truncated
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871052726_284540895034RepeatNote=5
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871052846_295940895034RepeatNote=6
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+87105841_95440895034RepeatNote=1
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+87105955_106840895034RepeatNote=2
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881061344_135940945039RepeatNote=3%3B truncated
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881061372_138740945039RepeatNote=4%3B truncated
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881062726_284540945039RepeatNote=5
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881062846_295940945039RepeatNote=6
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+88106841_95440945039RepeatNote=1
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+88106955_106840945039RepeatNote=2
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871051344_135940895034RepeatNote=3%3B truncated
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871051372_138740895034RepeatNote=4%3B truncated
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871052726_284540895034RepeatNote=5
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871052846_295940895034RepeatNote=6
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+87105841_95440895034RepeatNote=1
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+87105955_106840895034RepeatNote=2
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871051_455940895034Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881061_455940945039Topological domainCytoplasmic
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871051_455940895034Topological domainCytoplasmic


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FusionGeneSequence for ACTN4_RYR1


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 ACTN4_RYR1


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
ACTN4MYOZ2, MYOZ1, PDLIM1, USP6NL, SLC9A3R2, COL17A1, TRIM3, MAGI1, GSN, CAMK2A, CAMK2B, INO80, UBTF, STAT1, HDAC7, MEF2A, UCHL5, TJP1, ATXN7, HDAC5, VDR, ESR1, PSMA3, ELAVL1, SIRT7, SLC2A4, ISG15, COIL, SACS, HGS, UBASH3B, SHC1, NOS3, ACTN2, ACTN1, FMNL1, TRAF3IP1, FN1, VCAM1, CDH1, ITGA4, SVIL, CD81, IGSF8, ICAM1, TXN, RPS27, POT1, KPNA2, MAPK7, CDKN2A, VCP, SF3A3, GNB2, HUWE1, ACTN3, BMP7, ALK, CUL7, OBSL1, CCDC8, EGFR, LUZP4, RARA, HSPB1, AHNAK, ALDOA, ALDOC, IDH3A, MYH15, MYH2, MYH7B, NCAPG2, PSMA6, PSMB5, PUS7, TPM2, TSG101, CKB, CYC1, ECSIT, MCFD2, PSMB8, TPM1, TPM3, TPM4, NTRK1, CAPZA2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, MAPRE1, SIN3B, MYEF2, LIMA1, ANLN, MYO5C, MYO19, MYO18A, CTNNB1, MCM2, NFYA, CDC73, DDIAS, SSH1, NCL, DLD, DNM1L, PDHA1, SOD1, TRIM25, TESRYR1TRDN, HOMER1, FKBP1A, RYR2, S100A1, HOMER2, HOMER3, ANK1, CALM1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+12112_2654912VCL
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+11412_2654693VCL


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+121108_12654912VCL
HgeneACTN4chr19:39138547chr19:39051753ENST00000252699+12140_6154912VCL
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+114108_12654693VCL
HgeneACTN4chr19:39138547chr19:39051753ENST00000390009+11440_6154693VCL
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+871053614_364340895034CALM
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+881063614_364340945039CALM
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+871053614_364340895034CALM
TgeneRYR1chr19:39138547chr19:39051753ENST00000355481+87105669_68040895034FKBP1A
TgeneRYR1chr19:39138547chr19:39051753ENST00000359596+88106669_68040945039FKBP1A
TgeneRYR1chr19:39138547chr19:39051753ENST00000360985+87105669_68040895034FKBP1A


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ACTN4_RYR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRYR1P21817DB00201CaffeineRyanodine receptor 1small moleculeapproved
TgeneRYR1P21817DB01219DantroleneRyanodine receptor 1small moleculeapproved|investigational
TgeneRYR1P21817DB04786SuraminRyanodine receptor 1small moleculeapproved|investigational
TgeneRYR1P21817DB09085TetracaineRyanodine receptor 1small moleculeapproved|vet_approved

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RelatedDiseases for ACTN4_RYR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTN4C0333497Segmental glomerulosclerosis3UNIPROT
HgeneACTN4C0024667Animal Mammary Neoplasms1CTD_human
HgeneACTN4C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneRYR1C0024591Malignant hyperpyrexia due to anesthesia49CTD_human;HPO;ORPHANET;UNIPROT
TgeneRYR1C0751951Central Core Myopathy (disorder)37CTD_human;ORPHANET;UNIPROT
TgeneRYR1C1850674MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)3CTD_human;ORPHANET;UNIPROT
TgeneRYR1C0007134Renal Cell Carcinoma1CTD_human
TgeneRYR1C0752282Congenital Structural Myopathy1CTD_human