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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NDRG1-ATP2A2 (FusionGDB2 ID:57609)

Fusion Gene Summary for NDRG1-ATP2A2

check button Fusion gene summary
Fusion gene informationFusion gene name: NDRG1-ATP2A2
Fusion gene ID: 57609
HgeneTgene
Gene symbol

NDRG1

ATP2A2

Gene ID

10397

488

Gene nameN-myc downstream regulated 1ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
SynonymsCAP43|CMT4D|DRG-1|DRG1|GC4|HMSNL|NDR1|NMSL|PROXY1|RIT42|RTP|TARG1|TDD5ATP2B|DAR|DD|SERCA2
Cytomap

8q24.22

12q24.11

Type of geneprotein-codingprotein-coding
Descriptionprotein NDRG1N-myc downstream-regulated gene 1 proteindifferentiation-related gene 1 proteinnickel-specific induction protein Cap43protein regulated by oxygen-1reducing agents and tunicamycin-responsive proteinsarcoplasmic/endoplasmic reticulum calcium ATPase 2ATPase Ca++ transporting cardiac muscle slow twitch 2ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2SR Ca(2+)-ATPase 2calcium pump 2calcium-transporting ATPase sarcoplasmic reticulum type, slow
Modification date2020032820200313
UniProtAcc

Q92597

P16615

Ensembl transtripts involved in fusion geneENST00000323851, ENST00000354944, 
ENST00000521414, ENST00000537882, 
ENST00000414097, ENST00000518176, 
ENST00000522476, ENST00000518066, 
ENST00000308664, ENST00000395494, 
ENST00000539276, ENST00000550248, 
ENST00000552636, 
Fusion gene scores* DoF score27 X 21 X 12=680419 X 23 X 6=2622
# samples 4023
** MAII scorelog2(40/6804*10)=-4.08831123588866
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(23/2622*10)=-3.51096191927738
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NDRG1 [Title/Abstract] AND ATP2A2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNDRG1(134251059)-ATP2A2(110778670), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneATP2A2

GO:0032469

endoplasmic reticulum calcium ion homeostasis

16402920

TgeneATP2A2

GO:0032470

positive regulation of endoplasmic reticulum calcium ion concentration

16402920

TgeneATP2A2

GO:0070588

calcium ion transmembrane transport

16402920

TgeneATP2A2

GO:1903515

calcium ion transport from cytosol to endoplasmic reticulum

16402920


check buttonFusion gene breakpoints across NDRG1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ATP2A2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABF917195NDRG1chr8

134251059

-ATP2A2chr12

110778670

-


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Fusion Gene ORF analysis for NDRG1-ATP2A2

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-3CDSENST00000323851ENST00000308664NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000323851ENST00000395494NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000323851ENST00000539276NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000323851ENST00000550248NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000323851ENST00000552636NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000354944ENST00000308664NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000354944ENST00000395494NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000354944ENST00000539276NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000354944ENST00000550248NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000354944ENST00000552636NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000521414ENST00000308664NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000521414ENST00000395494NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000521414ENST00000539276NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000521414ENST00000550248NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000521414ENST00000552636NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000537882ENST00000308664NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000537882ENST00000395494NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000537882ENST00000539276NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000537882ENST00000550248NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000537882ENST00000552636NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000414097ENST00000308664NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000414097ENST00000395494NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000414097ENST00000539276NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000414097ENST00000550248NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000414097ENST00000552636NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000518176ENST00000308664NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000518176ENST00000395494NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000518176ENST00000539276NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000518176ENST00000550248NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000518176ENST00000552636NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000522476ENST00000308664NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000522476ENST00000395494NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000522476ENST00000539276NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000522476ENST00000550248NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000522476ENST00000552636NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000518066ENST00000308664NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000518066ENST00000395494NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-3CDSENST00000518066ENST00000539276NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000518066ENST00000550248NDRG1chr8

134251059

-ATP2A2chr12

110778670

-
intron-intronENST00000518066ENST00000552636NDRG1chr8

134251059

-ATP2A2chr12

110778670

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for NDRG1-ATP2A2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for NDRG1-ATP2A2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NDRG1

Q92597

ATP2A2

P16615

FUNCTION: Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy. {ECO:0000269|PubMed:15247272, ECO:0000269|PubMed:15377670, ECO:0000269|PubMed:17786215, ECO:0000269|PubMed:9766676}.FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (PubMed:16402920). Involved in autophagy in response to starvation. Upon interaction with VMP1 and activation, controls ER-isolation membrane contacts for autophagosome formation (PubMed:28890335). Also modulates ER contacts with lipid droplets, mitochondria and endosomes (PubMed:28890335). {ECO:0000269|PubMed:16402920, ECO:0000269|PubMed:28890335}.; FUNCTION: [Isoform 2]: Involved in the regulation of the contraction/relaxation cycle. Acts as a regulator of TNFSF11-mediated Ca(2+) signaling pathways via its interaction with TMEM64 which is critical for the TNFSF11-induced CREB1 activation and mitochondrial ROS generation necessary for proper osteoclast generation. Association between TMEM64 and SERCA2 in the ER leads to cytosolic Ca(2+) spiking for activation of NFATC1 and production of mitochondrial ROS, thereby triggering Ca(2+) signaling cascades that promote osteoclast differentiation and activation. {ECO:0000250|UniProtKB:O55143}.

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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Fusion Gene Sequence for NDRG1-ATP2A2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for NDRG1-ATP2A2


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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Related Drugs for NDRG1-ATP2A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for NDRG1-ATP2A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNDRG1C0027627Neoplasm Metastasis2CTD_human
HgeneNDRG1C1832334CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneNDRG1C0004114Astrocytoma1CTD_human
HgeneNDRG1C0006142Malignant neoplasm of breast1CTD_human
HgeneNDRG1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneNDRG1C0007134Renal Cell Carcinoma1CTD_human
HgeneNDRG1C0017636Glioblastoma1CTD_human
HgeneNDRG1C0022665Kidney Neoplasm1CTD_human
HgeneNDRG1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneNDRG1C0023903Liver neoplasms1CTD_human
HgeneNDRG1C0025202melanoma1CTD_human
HgeneNDRG1C0026640Mouth Neoplasms1CTD_human
HgeneNDRG1C0029295Oropharyngeal Neoplasms1CTD_human
HgeneNDRG1C0033578Prostatic Neoplasms1CTD_human
HgeneNDRG1C0149925Small cell carcinoma of lung1CTD_human
HgeneNDRG1C0153381Malignant neoplasm of mouth1CTD_human
HgeneNDRG1C0205768Subependymal Giant Cell Astrocytoma1CTD_human
HgeneNDRG1C0206658Smooth Muscle Tumor1CTD_human
HgeneNDRG1C0206734Hemangioblastoma1CTD_human
HgeneNDRG1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneNDRG1C0280783Juvenile Pilocytic Astrocytoma1CTD_human
HgeneNDRG1C0280785Diffuse Astrocytoma1CTD_human
HgeneNDRG1C0334579Anaplastic astrocytoma1CTD_human
HgeneNDRG1C0334580Protoplasmic astrocytoma1CTD_human
HgeneNDRG1C0334581Gemistocytic astrocytoma1CTD_human
HgeneNDRG1C0334582Fibrillary Astrocytoma1CTD_human
HgeneNDRG1C0334583Pilocytic Astrocytoma1CTD_human
HgeneNDRG1C0334588Giant Cell Glioblastoma1CTD_human
HgeneNDRG1C0338070Childhood Cerebral Astrocytoma1CTD_human
HgeneNDRG1C0345904Malignant neoplasm of liver1CTD_human
HgeneNDRG1C0376358Malignant neoplasm of prostate1CTD_human
HgeneNDRG1C0547065Mixed oligoastrocytoma1CTD_human
HgeneNDRG1C0678222Breast Carcinoma1CTD_human
HgeneNDRG1C0740457Malignant neoplasm of kidney1CTD_human
HgeneNDRG1C0750935Cerebral Astrocytoma1CTD_human
HgeneNDRG1C0750936Intracranial Astrocytoma1CTD_human
HgeneNDRG1C0751692Multiple Hemangioblastomas1CTD_human
HgeneNDRG1C0887833Carcinoma, Pancreatic Ductal1CTD_human
HgeneNDRG1C1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneNDRG1C1257931Mammary Neoplasms, Human1CTD_human
HgeneNDRG1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneNDRG1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneNDRG1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneNDRG1C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneNDRG1C1458155Mammary Neoplasms1CTD_human
HgeneNDRG1C1621958Glioblastoma Multiforme1CTD_human
HgeneNDRG1C1704230Grade I Astrocytoma1CTD_human
HgeneNDRG1C2349952Oropharyngeal Carcinoma1CTD_human
HgeneNDRG1C4704874Mammary Carcinoma, Human1CTD_human
TgeneATP2A2C0022595Keratosis Follicularis12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneATP2A2C0265971Acrokeratosis Verruciformis of Hopf3CTD_human;ORPHANET;UNIPROT
TgeneATP2A2C0011570Mental Depression2PSYGENET
TgeneATP2A2C0011581Depressive disorder2PSYGENET
TgeneATP2A2C0473575Acantholytic Dyskeratotic Epidermal Nevus2CTD_human
TgeneATP2A2C0525045Mood Disorders2PSYGENET
TgeneATP2A2C0002152Alloxan Diabetes1CTD_human
TgeneATP2A2C0011853Diabetes Mellitus, Experimental1CTD_human
TgeneATP2A2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneATP2A2C0018799Heart Diseases1CTD_human
TgeneATP2A2C0018800Cardiomegaly1CTD_human
TgeneATP2A2C0018801Heart failure1CTD_human
TgeneATP2A2C0018802Congestive heart failure1CTD_human;GENOMICS_ENGLAND
TgeneATP2A2C0023212Left-Sided Heart Failure1CTD_human
TgeneATP2A2C0027055Myocardial Reperfusion Injury1CTD_human
TgeneATP2A2C0036341Schizophrenia1PSYGENET
TgeneATP2A2C0038220Status Epilepticus1CTD_human
TgeneATP2A2C0038433Streptozotocin Diabetes1CTD_human
TgeneATP2A2C0206145Stunned Myocardium1CTD_human
TgeneATP2A2C0206146Myocardial Stunning1CTD_human
TgeneATP2A2C0235527Heart Failure, Right-Sided1CTD_human
TgeneATP2A2C0242698Ventricular Dysfunction, Left1CTD_human
TgeneATP2A2C0270823Petit mal status1CTD_human
TgeneATP2A2C0311335Grand Mal Status Epilepticus1CTD_human
TgeneATP2A2C0376416Hibernation, Myocardial1CTD_human
TgeneATP2A2C0393734Complex Partial Status Epilepticus1CTD_human
TgeneATP2A2C0751522Status Epilepticus, Subclinical1CTD_human
TgeneATP2A2C0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneATP2A2C0751524Simple Partial Status Epilepticus1CTD_human
TgeneATP2A2C0853897Diabetic Cardiomyopathies1CTD_human
TgeneATP2A2C1383860Cardiac Hypertrophy1CTD_human
TgeneATP2A2C1959583Myocardial Failure1CTD_human
TgeneATP2A2C1961112Heart Decompensation1CTD_human