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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: 24217

FusionGeneSummary for NFIA_RYR2

check button Fusion gene summary
Fusion gene informationFusion gene name: NFIA_RYR2
Fusion gene ID: 24217
HgeneTgene
Gene symbol

NFIA

RYR2

Gene ID

4774

6262

Gene namenuclear factor I Aryanodine receptor 2
SynonymsBRMUTD|CTF|NF-I/A|NF1-A|NFI-A|NFI-LARVC2|ARVD2|RYR-2|RyR|VTSIP
Cytomap

1p31.3

1q43

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor 1 A-typeCCAAT-box-binding transcription factorTGGCA-binding proteinryanodine receptor 2cardiac muscle ryanodine receptor-calcium release channelcardiac-type ryanodine receptorislet-type ryanodine receptorkidney-type ryanodine receptorryanodine receptor 2 (cardiac)type 2 ryanodine receptor
Modification date2018052320180523
UniProtAcc

Q12857

Q92736

Ensembl transtripts involved in fusion geneENST00000371191, ENST00000407417, 
ENST00000479364, ENST00000371189, 
ENST00000403491, ENST00000371187, 
ENST00000485903, ENST00000371185, 
ENST00000371184, ENST00000357977, 
ENST00000366574, ENST00000360064, 
ENST00000542537, ENST00000609119, 
Fusion gene scores* DoF score14 X 13 X 7=12745 X 5 X 2=50
# samples 187
** MAII scorelog2(18/1274*10)=-2.82329646592663
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/50*10)=0.485426827170242
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NFIA [Title/Abstract] AND RYR2 [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
HgeneNFIA

GO:0045944

positive regulation of transcription by RNA polymerase II

17010934

TgeneRYR2

GO:0005513

detection of calcium ion

10830164

TgeneRYR2

GO:0006816

calcium ion transport

17921453

TgeneRYR2

GO:0031000

response to caffeine

17921453

TgeneRYR2

GO:0035584

calcium-mediated signaling using intracellular calcium source

17921453

TgeneRYR2

GO:0051209

release of sequestered calcium ion into cytosol

12443530|17921453

TgeneRYR2

GO:0051284

positive regulation of sequestering of calcium ion

12443530|12919952

TgeneRYR2

GO:0051775

response to redox state

19226252

TgeneRYR2

GO:0060402

calcium ion transport into cytosol

17921453

TgeneRYR2

GO:0071313

cellular response to caffeine

12919952

TgeneRYR2

GO:0072599

establishment of protein localization to endoplasmic reticulum

12443530

TgeneRYR2

GO:1901896

positive regulation of calcium-transporting ATPase activity

12443530


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
ChiTaRS3.1BX479190NFIAchr1

61717886

+RYR2chr1

237928095

-
ChiTaRS3.1BX479192NFIAchr1

61717886

+RYR2chr1

237928095

-
* 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-intronENST00000371191ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371191ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371191ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371191ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000407417ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000407417ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000407417ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000407417ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000479364ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000479364ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000479364ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000479364ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371189ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371189ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371189ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371189ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000403491ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000403491ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000403491ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000403491ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371187ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371187ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371187ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371187ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000485903ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000485903ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000485903ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000485903ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371185ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371185ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371185ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371185ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371184ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371184ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371184ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000371184ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000357977ENST00000366574NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000357977ENST00000360064NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000357977ENST00000542537NFIAchr1

61717886

+RYR2chr1

237928095

-
intron-intronENST00000357977ENST00000609119NFIAchr1

61717886

+RYR2chr1

237928095

-

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FusionProtFeatures for NFIA_RYR2


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

Q12857

RYR2

Q92736

Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and inthe origin of replication of adenovirus type 2. These proteins areindividually capable of activating transcription and replication. Calcium channel that mediates the release of Ca(2+) fromthe sarcoplasmic reticulum into the cytoplasm and thereby plays akey role in triggering cardiac muscle contraction. Aberrantchannel activation can lead to cardiac arrhythmia. In cardiacmyocytes, calcium release is triggered by increased Ca(2+) levelsdue to activation of the L-type calcium channel CACNA1C. Thecalcium channel activity is modulated by formation ofheterotetramers with RYR3. Required for cellular calcium ionhomeostasis. Required for embryonic heart development.{ECO:0000269|PubMed:10830164, ECO:0000269|PubMed:20056922,ECO:0000269|PubMed:27733687}.

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 NFIA_RYR2


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 NFIA_RYR2


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 NFIA_RYR2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRYR2Q92736DB09085TetracaineRyanodine receptor 2small moleculeapproved|vet_approved

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RelatedDiseases for NFIA_RYR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRYR2C1631597VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)12CTD_human;ORPHANET;UNIPROT
TgeneRYR2C0042514Tachycardia, Ventricular2CTD_human;HPO
TgeneRYR2C1832931ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 22CTD_human;UNIPROT
TgeneRYR2C0039231Tachycardia1CTD_human
TgeneRYR2C0151744Myocardial Ischemia1CTD_human
TgeneRYR2C0345967Malignant mesothelioma1CTD_human
TgeneRYR2C0853897Diabetic Cardiomyopathies1CTD_human
TgeneRYR2C1510586Autism Spectrum Disorders1CTD_human