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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:MAPK1-ATP1A1 (FusionGDB2 ID:51237)

Fusion Gene Summary for MAPK1-ATP1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPK1-ATP1A1
Fusion gene ID: 51237
HgeneTgene
Gene symbol

MAPK1

ATP1A1

Gene ID

5594

480

Gene namemitogen-activated protein kinase 1ATPase Na+/K+ transporting subunit alpha 4
SynonymsERK|ERK-2|ERK2|ERT1|MAPK2|P42MAPK|PRKM1|PRKM2|p38|p40|p41|p41mapk|p42-MAPKATP1A1|ATP1AL2
Cytomap

22q11.22

1q23.2

Type of geneprotein-codingprotein-coding
Descriptionmitogen-activated protein kinase 1MAP kinase 1MAP kinase 2MAP kinase isoform p42MAPK 2extracellular signal-regulated kinase 2mitogen-activated protein kinase 2protein tyrosine kinase ERK2sodium/potassium-transporting ATPase subunit alpha-4ATPase, Na+/K+ transporting, alpha 4 polypeptideATPase, Na+/K+ transporting, alpha polypeptide-like 2Na(+)/K(+) ATPase alpha-4 subunitNa+/K+ ATPase 4Na+/K+ ATPase, alpha-D polypeptideNa,K-ATPase su
Modification date2020032720200313
UniProtAcc

P28482

Q5TC04

Ensembl transtripts involved in fusion geneENST00000215832, ENST00000398822, 
ENST00000544786, ENST00000491588, 
ENST00000295598, ENST00000537345, 
ENST00000369496, ENST00000491156, 
Fusion gene scores* DoF score20 X 16 X 10=320019 X 23 X 5=2185
# samples 2424
** MAII scorelog2(24/3200*10)=-3.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(24/2185*10)=-3.18652696877944
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAPK1 [Title/Abstract] AND ATP1A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAPK1(22115665)-ATP1A1(116941300), # 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
HgeneMAPK1

GO:0006468

protein phosphorylation

23184662

HgeneMAPK1

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

16314496

HgeneMAPK1

GO:0018105

peptidyl-serine phosphorylation

15850461

HgeneMAPK1

GO:0034198

cellular response to amino acid starvation

11096076

HgeneMAPK1

GO:0038127

ERBB signaling pathway

15133037

HgeneMAPK1

GO:0051403

stress-activated MAPK cascade

11096076

HgeneMAPK1

GO:0070371

ERK1 and ERK2 cascade

16314496

HgeneMAPK1

GO:0070849

response to epidermal growth factor

18794356

TgeneATP1A1

GO:0030317

flagellated sperm motility

12112599

TgeneATP1A1

GO:0030641

regulation of cellular pH

12112599


check buttonFusion gene breakpoints across MAPK1 (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 ATP1A1 (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/ABG877408MAPK1chr22

22115665

-ATP1A1chr1

116941300

+


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Fusion Gene ORF analysis for MAPK1-ATP1A1

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-3CDSENST00000215832ENST00000295598MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000215832ENST00000537345MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000215832ENST00000369496MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-intronENST00000215832ENST00000491156MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000398822ENST00000295598MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000398822ENST00000537345MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000398822ENST00000369496MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-intronENST00000398822ENST00000491156MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000544786ENST00000295598MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000544786ENST00000537345MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000544786ENST00000369496MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-intronENST00000544786ENST00000491156MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000491588ENST00000295598MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000491588ENST00000537345MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-3CDSENST00000491588ENST00000369496MAPK1chr22

22115665

-ATP1A1chr1

116941300

+
intron-intronENST00000491588ENST00000491156MAPK1chr22

22115665

-ATP1A1chr1

116941300

+

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 MAPK1-ATP1A1


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 MAPK1-ATP1A1


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
MAPK1

P28482

ATP1A1

Q5TC04

FUNCTION: Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade plays also a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Many of these substrates are localized in the nucleus, and seem to participate in the regulation of transcription upon stimulation. However, other substrates are found in the cytosol as well as in other cellular organelles, and those are responsible for processes such as translation, mitosis and apoptosis. Moreover, the MAPK/ERK cascade is also involved in the regulation of the endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC); as well as in the fragmentation of the Golgi apparatus during mitosis. The substrates include transcription factors (such as ATF2, BCL6, ELK1, ERF, FOS, HSF4 or SPZ1), cytoskeletal elements (such as CANX, CTTN, GJA1, MAP2, MAPT, PXN, SORBS3 or STMN1), regulators of apoptosis (such as BAD, BTG2, CASP9, DAPK1, IER3, MCL1 or PPARG), regulators of translation (such as EIF4EBP1) and a variety of other signaling-related molecules (like ARHGEF2, DCC, FRS2 or GRB10). Protein kinases (such as RAF1, RPS6KA1/RSK1, RPS6KA3/RSK2, RPS6KA2/RSK3, RPS6KA6/RSK4, SYK, MKNK1/MNK1, MKNK2/MNK2, RPS6KA5/MSK1, RPS6KA4/MSK2, MAPKAPK3 or MAPKAPK5) and phosphatases (such as DUSP1, DUSP4, DUSP6 or DUSP16) are other substrates which enable the propagation the MAPK/ERK signal to additional cytosolic and nuclear targets, thereby extending the specificity of the cascade. Mediates phosphorylation of TPR in respons to EGF stimulation. May play a role in the spindle assembly checkpoint. Phosphorylates PML and promotes its interaction with PIN1, leading to PML degradation. Phosphorylates CDK2AP2 (By similarity). {ECO:0000250|UniProtKB:P63086, ECO:0000269|PubMed:10617468, ECO:0000269|PubMed:10637505, ECO:0000269|PubMed:11154262, ECO:0000269|PubMed:12110590, ECO:0000269|PubMed:12356731, ECO:0000269|PubMed:12792650, ECO:0000269|PubMed:12794087, ECO:0000269|PubMed:12974390, ECO:0000269|PubMed:15184391, ECO:0000269|PubMed:15241487, ECO:0000269|PubMed:15616583, ECO:0000269|PubMed:15664191, ECO:0000269|PubMed:15788397, ECO:0000269|PubMed:15952796, ECO:0000269|PubMed:16581800, ECO:0000269|PubMed:18794356, ECO:0000269|PubMed:19265199, ECO:0000269|PubMed:19879846, ECO:0000269|PubMed:22033920, ECO:0000269|PubMed:7588608, ECO:0000269|PubMed:8622688, ECO:0000269|PubMed:9480836, ECO:0000269|PubMed:9596579, ECO:0000269|PubMed:9649500, ECO:0000269|PubMed:9687510, ECO:0000303|PubMed:15526160, ECO:0000303|PubMed:16393692, ECO:0000303|PubMed:19565474, ECO:0000303|PubMed:21779493}.; FUNCTION: Acts as a transcriptional repressor. Binds to a [GC]AAA[GC] consensus sequence. Repress the expression of interferon gamma-induced genes. Seems to bind to the promoter of CCL5, DMP1, IFIH1, IFITM1, IRF7, IRF9, LAMP3, OAS1, OAS2, OAS3 and STAT1. Transcriptional activity is independent of kinase activity. {ECO:0000269|PubMed:19879846}.

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 MAPK1-ATP1A1


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 MAPK1-ATP1A1


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 MAPK1-ATP1A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMAPK1P28482DB11120TurpentineSmall moleculeApproved|Experimental
HgeneMAPK1P28482DB11120TurpentineSmall moleculeApproved|Experimental
HgeneMAPK1P28482DB11120TurpentineSmall moleculeApproved|Experimental
HgeneMAPK1P28482DB11120TurpentineSmall moleculeApproved|Experimental
HgeneMAPK1P28482DB01064IsoprenalineInducerSmall moleculeApproved|Investigational
HgeneMAPK1P28482DB01064IsoprenalineInducerSmall moleculeApproved|Investigational
HgeneMAPK1P28482DB01064IsoprenalineInducerSmall moleculeApproved|Investigational
HgeneMAPK1P28482DB01064IsoprenalineInducerSmall moleculeApproved|Investigational
HgeneMAPK1P28482DB01169Arsenic trioxideInducerSmall moleculeApproved|Investigational
HgeneMAPK1P28482DB01169Arsenic trioxideInducerSmall moleculeApproved|Investigational
HgeneMAPK1P28482DB01169Arsenic trioxideInducerSmall moleculeApproved|Investigational
HgeneMAPK1P28482DB01169Arsenic trioxideInducerSmall moleculeApproved|Investigational

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Related Diseases for MAPK1-ATP1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAPK1C0009171Cocaine Abuse2CTD_human
HgeneMAPK1C0020429Hyperalgesia2CTD_human
HgeneMAPK1C0024121Lung Neoplasms2CTD_human
HgeneMAPK1C0236736Cocaine-Related Disorders2CTD_human
HgeneMAPK1C0242379Malignant neoplasm of lung2CTD_human
HgeneMAPK1C0458247Allodynia2CTD_human
HgeneMAPK1C0600427Cocaine Dependence2CTD_human
HgeneMAPK1C0751211Hyperalgesia, Primary2CTD_human
HgeneMAPK1C0751212Hyperalgesia, Secondary2CTD_human
HgeneMAPK1C0751213Tactile Allodynia2CTD_human
HgeneMAPK1C0751214Hyperalgesia, Thermal2CTD_human
HgeneMAPK1C2936719Mechanical Allodynia2CTD_human
HgeneMAPK1C0005398Cholestasis, Extrahepatic1CTD_human
HgeneMAPK1C0005586Bipolar Disorder1PSYGENET
HgeneMAPK1C0007137Squamous cell carcinoma1CTD_human
HgeneMAPK1C0007786Brain Ischemia1CTD_human
HgeneMAPK1C0017639Gliosis1CTD_human
HgeneMAPK1C0018671Head and Neck Neoplasms1CTD_human
HgeneMAPK1C0018675Head Neoplasms1CTD_human
HgeneMAPK1C0019207Hepatoma, Morris1CTD_human
HgeneMAPK1C0019208Hepatoma, Novikoff1CTD_human
HgeneMAPK1C0020564Hypertrophy1CTD_human
HgeneMAPK1C0021361Female infertility1CTD_human
HgeneMAPK1C0022665Kidney Neoplasm1CTD_human
HgeneMAPK1C0023904Liver Neoplasms, Experimental1CTD_human
HgeneMAPK1C0024623Malignant neoplasm of stomach1CTD_human
HgeneMAPK1C0027533Neck Neoplasms1CTD_human
HgeneMAPK1C0027626Neoplasm Invasiveness1CTD_human
HgeneMAPK1C0027627Neoplasm Metastasis1CTD_human
HgeneMAPK1C0027746Nerve Degeneration1CTD_human
HgeneMAPK1C0033141Cardiomyopathies, Primary1CTD_human
HgeneMAPK1C0034189Pyemia1CTD_human
HgeneMAPK1C0036341Schizophrenia1PSYGENET
HgeneMAPK1C0036529Myocardial Diseases, Secondary1CTD_human
HgeneMAPK1C0036690Septicemia1CTD_human
HgeneMAPK1C0036920Sezary Syndrome1CTD_human
HgeneMAPK1C0038279Sterility, Postpartum1CTD_human
HgeneMAPK1C0038356Stomach Neoplasms1CTD_human
HgeneMAPK1C0038587Substance Withdrawal Syndrome1CTD_human
HgeneMAPK1C0040997Trigeminal Neuralgia1CTD_human
HgeneMAPK1C0086189Drug Withdrawal Symptoms1CTD_human
HgeneMAPK1C0086404Experimental Hepatoma1CTD_human
HgeneMAPK1C0087031Juvenile-Onset Still Disease1CTD_human
HgeneMAPK1C0087169Withdrawal Symptoms1CTD_human
HgeneMAPK1C0155862Streptococcal pneumonia1CTD_human
HgeneMAPK1C0178417Anhedonia1PSYGENET
HgeneMAPK1C0243026Sepsis1CTD_human
HgeneMAPK1C0278996Malignant Head and Neck Neoplasm1CTD_human
HgeneMAPK1C0341869Subfertility, Female1CTD_human
HgeneMAPK1C0393786Trigeminal Neuralgia, Idiopathic1CTD_human
HgeneMAPK1C0393787Secondary Trigeminal Neuralgia1CTD_human
HgeneMAPK1C0740457Malignant neoplasm of kidney1CTD_human
HgeneMAPK1C0746787Cancer of Neck1CTD_human
HgeneMAPK1C0751177Cancer of Head1CTD_human
HgeneMAPK1C0878544Cardiomyopathies1CTD_human
HgeneMAPK1C0887900Upper Aerodigestive Tract Neoplasms1CTD_human
HgeneMAPK1C0917730Female sterility1CTD_human
HgeneMAPK1C0917798Cerebral Ischemia1CTD_human
HgeneMAPK1C0919267ovarian neoplasm1CTD_human
HgeneMAPK1C1140680Malignant neoplasm of ovary1CTD_human
HgeneMAPK1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneMAPK1C1719672Severe Sepsis1CTD_human
HgeneMAPK1C1866282CEROID LIPOFUSCINOSIS, NEURONAL, 61CTD_human
HgeneMAPK1C3495559Juvenile arthritis1CTD_human
HgeneMAPK1C3714758Juvenile psoriatic arthritis1CTD_human
HgeneMAPK1C3887640Astrocytosis1CTD_human
HgeneMAPK1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneMAPK1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneATP1A1C0001430Adenoma2CTD_human
TgeneATP1A1C0205646Adenoma, Basal Cell2CTD_human
TgeneATP1A1C0205647Follicular adenoma2CTD_human
TgeneATP1A1C0205648Adenoma, Microcystic2CTD_human
TgeneATP1A1C0205649Adenoma, Monomorphic2CTD_human
TgeneATP1A1C0205650Papillary adenoma2CTD_human
TgeneATP1A1C0205651Adenoma, Trabecular2CTD_human
TgeneATP1A1C4747974CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD2GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneATP1A1C0005586Bipolar Disorder1PSYGENET
TgeneATP1A1C0017162Gastroenteritis, Transmissible, of Swine1CTD_human
TgeneATP1A1C0020428Hyperaldosteronism1CTD_human
TgeneATP1A1C0020538Hypertensive disease1CTD_human
TgeneATP1A1C0027051Myocardial Infarction1CTD_human
TgeneATP1A1C0027055Myocardial Reperfusion Injury1CTD_human
TgeneATP1A1C0036572Seizures1GENOMICS_ENGLAND
TgeneATP1A1C0042594Vestibular Diseases1CTD_human
TgeneATP1A1C0151723Hypomagnesemia1GENOMICS_ENGLAND
TgeneATP1A1C0151744Myocardial Ischemia1CTD_human
TgeneATP1A1C1384514Conn Syndrome1CTD_human
TgeneATP1A1C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneATP1A1C4552839Hypomagnesemia, CTCAE1GENOMICS_ENGLAND