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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for TP53

check button Gene summary
Gene informationGene symbol

TP53

Gene ID

7157

Gene nametumor protein p53
SynonymsBCC7|BMFS5|LFS1|P53|TRP53
Cytomap

17p13.1

Type of geneprotein-coding
Descriptioncellular tumor antigen p53antigen NY-CO-13mutant tumor protein 53p53 tumor suppressorphosphoprotein p53transformation-related protein 53tumor protein 53tumor supressor p53
Modification date20200329
UniProtAcc

A0A087WT22,

A0A087WXZ1,

A0A087WZU8,

A0A087X1Q1,

A0A0A0U7X4,

A0A0M4B4Y9,

A0A0R9RRX7,

A0A0U1RQC9,

A0A1B1PFC7,

A0A1B1PFD4,

A0A1D8V7A7,

A0A218MJB0,

A0A218MJC8,

A0A218MJD5,

A0A218MJD9,

A0A218MJE1,

A0A218MJE5,

A0A218MJF3,

A0A346XLN8,

A0A346XLN9,

A0A346XLP0,

A0A346XLP1,

A0A346XLP2,

A0A346XLP3,

A0A346XLP5,

A0A346XLP6,

A0A346XLP7,

A0A346XLP8,

A0A346XLP9,

A0A346XLQ1,

A0A346XLR1,

A0A346XLR9,

A0A346XLS5,

A0A346XLS6,

A0A346XLS7,

A0A346XLS8,

A0A346XLS9,

A0A346XLT0,

A0A346XLT1,

A0A346XLT2,

A0A346XLT3,

A0A346XLT4,

A0A346XLU1,

A0A346XLW0,

A0A346XLW4,

A0A346XLW8,

A0A346XLX0,

A0A346XLX2,

A0A346XLX3,

A0A346XLX5,

A0A346XLY3,

A0A346XLY6,

A0A346XM05,

A0A346XM06,

A0A346XM22,

A0A346XM28,

A0A346XM34,

A0A346XM38,

A0A346XM39,

A0A346XM40,

A0A346XM43,

A0A346XM49,

A0A346XM50,

A0A346XM51,

A0A346XM56,

A0A386NBZ1,

A0A386NC20,

A0A386NC22,

A0A386NC25,

A0A386NC55,

A0A386NC62,

A0A386NCA6,

A0A386NCB1,

A0A386NCU2,

A0A386NCW8,

A0A386NCX4,

A0A386NDA8,

A0A386NDB3,

A0A386NFX3,

A0A386NFY2,

A0A386NG45,

A0A386YR42,

A0A3Q8QC73,

A0A514TSZ1,

A0A514TSZ6,

A0A514TSZ9,

A0A514TT08,

A0A514TT13,

A0A514TT20,

A0A514TT23,

A0A514TT34,

A0A514TT40,

A0A514TT49,

A0A514TT50,

A0A514TT61,

A2I9Y7,

A2I9Z0,

A2I9Z1,

A2I9Z2,

A4GW67,

A4GW74,

A4GW75,

A4GW76,

A4GW97,

A4GWB4,

A4GWB5,

A4GWB8,

A4GWD0,

B1PZ15,

B4XAK8,

B4XAL0,

B5AKF5,

B5AKF6,

B5AKF7,

D5KL86,

D5KL87,

D5KL88,

D5KL89,

D5KL90,

E2G6R5,

E5RMA8,

E7EMR6,

E7EQX7,

E7ESS1,

E9PCY9,

E9PFT5,

G4Y083,

H2EHT1,

I3L0W9,

J3KP33,

K7PPA8,

K7PPU4,

L0ENF7,

L0ENG6,

L0ENG9,

L0EP82,

L0EP99,

L0EPV7,

L0EPW3,

L0EPX4,

L0EPY0,

L0EPZ1,

L0EQ03,

L0EQ05,

L0EQ52,

L0EQ89,

L0EQ92,

L0EQE2,

L0EQJ1,

L0EQP1,

L0EQP9,

L0EQQ9,

L0EQS1,

L0EQT1,

L0EQU5,

L0EQV3,

L0EQX3,

L0EQX9,

L0EQY4,

L0ERB4,

L0ERI9,

L0ERJ3,

L0ERK8,

L0ERL2,

L0ERS6,

L0ES54,

L0ES73,

L0ES92,

L0ESB7,

L0ESQ5,

P04637,

Q0ZAJ9,

Q0ZAK0,

Q0ZAK1,

Q19RW5,

Q19RW6,

Q1HGV0,

Q1HGV1,

Q1HGV2,

Q1HGV3,

Q1MSW8,

Q1MSW9,

Q1MSX0,

Q2XSC7,

Q761V2,

S4R334,

S5LJ04,

S5LJ49,

S5LJ61,

S5LMC6,

S5LME3,

S5LMG1,

S5LMI5,

S5LQQ1,

S5LQU3,

S5LQU8,

S5LQX7,

S5M207,

S5M224,

S5M706,

S5M713,

U6BGT3,

U6BHT9,

U6BHU6,

U6BI14,

U6BKV7,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
TP53

GO:0000733

DNA strand renaturation

8183576

TP53

GO:0006355

regulation of transcription, DNA-templated

7587074

TP53

GO:0006974

cellular response to DNA damage stimulus

14744935|15710329|17938203

TP53

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

16213212

TP53

GO:0006983

ER overload response

14744935

TP53

GO:0007050

cell cycle arrest

15149599

TP53

GO:0008104

protein localization

16507995

TP53

GO:0008285

negative regulation of cell proliferation

22783376

TP53

GO:0010628

positive regulation of gene expression

15314173|20332243

TP53

GO:0030330

DNA damage response, signal transduction by p53 class mediator

15149599

TP53

GO:0031497

chromatin assembly

16322561

TP53

GO:0034644

cellular response to UV

16213212|23629966

TP53

GO:0036003

positive regulation of transcription from RNA polymerase II promoter in response to stress

30089260

TP53

GO:0042149

cellular response to glucose starvation

14744935|21471221

TP53

GO:0042771

intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

14654789|14744935|17403783

TP53

GO:0042981

regulation of apoptotic process

14744935

TP53

GO:0043065

positive regulation of apoptotic process

12667443|15565177|20959462

TP53

GO:0045892

negative regulation of transcription, DNA-templated

24051492

TP53

GO:0045893

positive regulation of transcription, DNA-templated

16322561|17403783|18549481|20378837

TP53

GO:0045899

positive regulation of RNA polymerase II transcriptional preinitiation complex assembly

24289924

TP53

GO:0045944

positive regulation of transcription by RNA polymerase II

11672523|17145718|17310983|17599062|18549481|20959462|24652652

TP53

GO:0051123

RNA polymerase II preinitiation complex assembly

24289924

TP53

GO:0051974

negative regulation of telomerase activity

10597287

TP53

GO:0065003

protein-containing complex assembly

12915590

TP53

GO:0071158

positive regulation of cell cycle arrest

15314173

TP53

GO:0071480

cellular response to gamma radiation

16213212

TP53

GO:0072331

signal transduction by p53 class mediator

15314173

TP53

GO:0072717

cellular response to actinomycin D

15314173

TP53

GO:0090200

positive regulation of release of cytochrome c from mitochondria

14963330

TP53

GO:0097252

oligodendrocyte apoptotic process

7720704

TP53

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

20546595

TP53

GO:1903800

positive regulation of production of miRNAs involved in gene silencing by miRNA

26100857

TP53

GO:1990248

regulation of transcription from RNA polymerase II promoter in response to DNA damage

30089260


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Gene structures and expression levels for TP53

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

ENSG00000141510
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBDOWNENST00000504937.5TP53-209:protein_coding:TP531.077285e+01-2.229788e+002.013697e-041.338855e-03
CBDOWNENST00000619186.4TP53-225:protein_coding:TP531.077285e+01-2.229788e+002.013697e-041.338855e-03
TCDOWNENST00000504937.5TP53-209:protein_coding:TP531.428425e+01-1.889473e+001.684332e-031.470300e-02
TCDOWNENST00000619186.4TP53-225:protein_coding:TP531.428425e+01-1.889473e+001.684332e-031.470300e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TP53

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_100713chr177669609:7669690:7670609:7670715:7673535:76735877670609:7670715
exon_skip_112179chr177674254:7674290:7674859:7674971:7675053:76751197674859:7674971
exon_skip_118272chr177675053:7675236:7675994:7676272:7676382:76764037675994:7676272
exon_skip_73chr177675229:7675236:7675994:7676272:7676382:76764037675994:7676272

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for TP53

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000026930576706097670715Frame-shift
ENST0000044588876706097670715Frame-shift
ENST0000026930576748597674971Frame-shift
ENST0000044588876748597674971Frame-shift
ENST0000026930576759947676272In-frame
ENST0000044588876759947676272In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

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Infer the effects of exon skipping event on protein functional features for TP53


check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000026930525963937675994767627228756432124
ENST0000044588825233937675994767627223351032124

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P04637321241132Alternative sequenceID=VSP_040833;Note=In isoform 7%2C isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16131611;Dbxref=PMID:16131611
P04637321241132Alternative sequenceID=VSP_040833;Note=In isoform 7%2C isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16131611;Dbxref=PMID:16131611
P0463732124139Alternative sequenceID=VSP_040832;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P0463732124139Alternative sequenceID=VSP_040832;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
P04637321243335Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2L14
P04637321243335Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2L14
P0463732124110112Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D06
P0463732124110112Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D06
P0463732124118120Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q05
P0463732124118120Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q05
P0463732124124127Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D06
P0463732124124127Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D06
P04637321241393ChainID=PRO_0000185703;Note=Cellular tumor antigen p53
P04637321241393ChainID=PRO_0000185703;Note=Cellular tumor antigen p53
P0463732124102292DNA binding.
P0463732124102292DNA binding.
P04637321243032HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HPD
P04637321243032HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HPD
P04637321243638HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2B3G
P04637321243638HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2B3G
P04637321244144HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2B3G
P04637321244144HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2B3G
P04637321244755HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2B3G
P04637321244755HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2B3G
P04637321243333Modified residueNote=Phosphoserine%3B by CDK5 and CDK7;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17591690,ECO:0000269|PubMed:9372954;Dbxref=PMID:17591690,PMID:9372954
P04637321243333Modified residueNote=Phosphoserine%3B by CDK5 and CDK7;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17591690,ECO:0000269|PubMed:9372954;Dbxref=PMID:17591690,PMID:9372954
P04637321243737Modified residueNote=Phosphoserine%3B by MAPKAPK5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17254968;Dbxref=PMID:17254968
P04637321243737Modified residueNote=Phosphoserine%3B by MAPKAPK5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17254968;Dbxref=PMID:17254968
P04637321244646Modified residueNote=Phosphoserine%3B by CDK5%2C DYRK2%2C HIPK2 and PKC/PRKCG;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11740489,ECO:0000269|PubMed:11780126,ECO:0000269|PubMed:16377624,ECO:0000269|PubMed:1734995
P04637321244646Modified residueNote=Phosphoserine%3B by CDK5%2C DYRK2%2C HIPK2 and PKC/PRKCG;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11740489,ECO:0000269|PubMed:11780126,ECO:0000269|PubMed:16377624,ECO:0000269|PubMed:1734995
P04637321245555Modified residueNote=Phosphothreonine%3B by TAF1 and GRK5;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15053879,ECO:0000269|PubMed:20124405;Dbxref=PMID:15053879,PMID:20124405
P04637321245555Modified residueNote=Phosphothreonine%3B by TAF1 and GRK5;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15053879,ECO:0000269|PubMed:20124405;Dbxref=PMID:15053879,PMID:20124405
P0463732124120120Modified residueNote=N6-acetyllysine%3B by KAT6A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23431171;Dbxref=PMID:23431171
P0463732124120120Modified residueNote=N6-acetyllysine%3B by KAT6A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23431171;Dbxref=PMID:23431171
P04637321244856MotifNote=TADII
P04637321244856MotifNote=TADII
P04637321243737MutagenesisNote=Abolihes phosphorylation by MAPKAPK5. S->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17254968;Dbxref=PMID:17254968
P04637321243737MutagenesisNote=Abolihes phosphorylation by MAPKAPK5. S->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17254968;Dbxref=PMID:17254968
P04637321244646MutagenesisNote=Abolishes phosphorylation by DYRK2 and HIPK2 and acetylation of K-382 by CREBBP. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11740489,ECO:0000269|PubMed:16219768,ECO:0000269|PubMed:17349958;Dbxref=PMID:11740489,
P04637321244646MutagenesisNote=Abolishes phosphorylation by DYRK2 and HIPK2 and acetylation of K-382 by CREBBP. S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11740489,ECO:0000269|PubMed:16219768,ECO:0000269|PubMed:17349958;Dbxref=PMID:11740489,
P04637321244646MutagenesisNote=Alters interaction with WWOX. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11740489,ECO:0000269|PubMed:16219768,ECO:0000269|PubMed:17349958;Dbxref=PMID:11740489,PMID:16219768,PMID:17349958
P04637321244646MutagenesisNote=Alters interaction with WWOX. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11740489,ECO:0000269|PubMed:16219768,ECO:0000269|PubMed:17349958;Dbxref=PMID:11740489,PMID:16219768,PMID:17349958
P04637321245555MutagenesisNote=Blocks phosphorylation by TAF1. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15053879;Dbxref=PMID:15053879
P04637321245555MutagenesisNote=Blocks phosphorylation by TAF1. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15053879;Dbxref=PMID:15053879
P04637321243333Natural variantID=VAR_044555;Note=In a sporadic cancer%3B somatic mutation. S->T
P04637321243333Natural variantID=VAR_044555;Note=In a sporadic cancer%3B somatic mutation. S->T
P04637321243434Natural variantID=VAR_044556;Note=In a sporadic cancer%3B somatic mutation. P->L
P04637321243434Natural variantID=VAR_044556;Note=In a sporadic cancer%3B somatic mutation. P->L
P04637321243535Natural variantID=VAR_005852;Note=In sporadic cancers%3B somatic mutation. L->F;Dbxref=dbSNP:rs121912661
P04637321243535Natural variantID=VAR_005852;Note=In sporadic cancers%3B somatic mutation. L->F;Dbxref=dbSNP:rs121912661
P04637321243636Natural variantID=VAR_044557;Note=In a sporadic cancer%3B somatic mutation. P->L;Dbxref=dbSNP:rs587781866
P04637321243636Natural variantID=VAR_044557;Note=In a sporadic cancer%3B somatic mutation. P->L;Dbxref=dbSNP:rs587781866
P04637321243737Natural variantID=VAR_044558;Note=In a sporadic cancer%3B somatic mutation. S->P
P04637321243737Natural variantID=VAR_044558;Note=In a sporadic cancer%3B somatic mutation. S->P
P04637321243737Natural variantID=VAR_044559;Note=In a sporadic cancer%3B somatic mutation. S->T
P04637321243737Natural variantID=VAR_044559;Note=In a sporadic cancer%3B somatic mutation. S->T
P04637321243939Natural variantID=VAR_044560;Note=In a sporadic cancer%3B somatic mutation. A->P
P04637321243939Natural variantID=VAR_044560;Note=In a sporadic cancer%3B somatic mutation. A->P
P04637321243939Natural variantID=VAR_044561;Note=In a sporadic cancer%3B somatic mutation. A->V;Dbxref=dbSNP:rs1353016807
P04637321243939Natural variantID=VAR_044561;Note=In a sporadic cancer%3B somatic mutation. A->V;Dbxref=dbSNP:rs1353016807
P04637321244242Natural variantID=VAR_044562;Note=In a sporadic cancer%3B somatic mutation. D->Y
P04637321244242Natural variantID=VAR_044562;Note=In a sporadic cancer%3B somatic mutation. D->Y
P04637321244343Natural variantID=VAR_005853;Note=In a sporadic cancer%3B somatic mutation. L->S
P04637321244343Natural variantID=VAR_005853;Note=In a sporadic cancer%3B somatic mutation. L->S
P04637321244444Natural variantID=VAR_044563;Note=In a sporadic cancer%3B somatic mutation. M->I;Dbxref=dbSNP:rs1060501190
P04637321244444Natural variantID=VAR_044563;Note=In a sporadic cancer%3B somatic mutation. M->I;Dbxref=dbSNP:rs1060501190
P04637321244444Natural variantID=VAR_044564;Note=In a sporadic cancer%3B somatic mutation. M->T
P04637321244444Natural variantID=VAR_044564;Note=In a sporadic cancer%3B somatic mutation. M->T
P04637321244444Natural variantID=VAR_044565;Note=In a sporadic cancer%3B somatic mutation. M->V
P04637321244444Natural variantID=VAR_044565;Note=In a sporadic cancer%3B somatic mutation. M->V
P04637321244545Natural variantID=VAR_044566;Note=In a sporadic cancer%3B somatic mutation. L->M
P04637321244545Natural variantID=VAR_044566;Note=In a sporadic cancer%3B somatic mutation. L->M
P04637321244646Natural variantID=VAR_044567;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321244646Natural variantID=VAR_044567;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321244646Natural variantID=VAR_044568;Note=In sporadic cancers%3B somatic mutation. S->P;Dbxref=dbSNP:rs876659630
P04637321244646Natural variantID=VAR_044568;Note=In sporadic cancers%3B somatic mutation. S->P;Dbxref=dbSNP:rs876659630
P04637321244747Natural variantID=VAR_044569;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321244747Natural variantID=VAR_044569;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321244747Natural variantID=VAR_014632;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.12;Dbxref=dbSNP:rs1800371
P04637321244747Natural variantID=VAR_014632;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.12;Dbxref=dbSNP:rs1800371
P04637321244848Natural variantID=VAR_044570;Note=In a sporadic cancer%3B somatic mutation. D->G
P04637321244848Natural variantID=VAR_044570;Note=In a sporadic cancer%3B somatic mutation. D->G
P04637321244949Natural variantID=VAR_044571;Note=In sporadic cancers%3B somatic mutation. D->H;Dbxref=dbSNP:rs587780728
P04637321244949Natural variantID=VAR_044571;Note=In sporadic cancers%3B somatic mutation. D->H;Dbxref=dbSNP:rs587780728
P04637321244949Natural variantID=VAR_044572;Note=In a sporadic cancer%3B somatic mutation. D->N;Dbxref=dbSNP:rs587780728
P04637321244949Natural variantID=VAR_044572;Note=In a sporadic cancer%3B somatic mutation. D->N;Dbxref=dbSNP:rs587780728
P04637321244949Natural variantID=VAR_044573;Note=In sporadic cancers%3B somatic mutation. D->Y
P04637321244949Natural variantID=VAR_044573;Note=In sporadic cancers%3B somatic mutation. D->Y
P04637321245252Natural variantID=VAR_044574;Note=In a sporadic cancer%3B somatic mutation. Q->H
P04637321245252Natural variantID=VAR_044574;Note=In a sporadic cancer%3B somatic mutation. Q->H
P04637321245353Natural variantID=VAR_005854;Note=In sporadic cancers%3B somatic mutation. W->C
P04637321245353Natural variantID=VAR_005854;Note=In sporadic cancers%3B somatic mutation. W->C
P04637321245353Natural variantID=VAR_044575;Note=In a sporadic cancer%3B somatic mutation. W->G
P04637321245353Natural variantID=VAR_044575;Note=In a sporadic cancer%3B somatic mutation. W->G
P04637321245454Natural variantID=VAR_044576;Note=In a sporadic cancer%3B somatic mutation. F->L
P04637321245454Natural variantID=VAR_044576;Note=In a sporadic cancer%3B somatic mutation. F->L
P04637321245454Natural variantID=VAR_044577;Note=In a sporadic cancer%3B somatic mutation. F->Y
P04637321245454Natural variantID=VAR_044577;Note=In a sporadic cancer%3B somatic mutation. F->Y
P04637321245656Natural variantID=VAR_044578;Note=In sporadic cancers%3B somatic mutation. E->K
P04637321245656Natural variantID=VAR_044578;Note=In sporadic cancers%3B somatic mutation. E->K
P04637321245656Natural variantID=VAR_044579;Note=In a sporadic cancer%3B somatic mutation. E->V
P04637321245656Natural variantID=VAR_044579;Note=In a sporadic cancer%3B somatic mutation. E->V
P04637321245858Natural variantID=VAR_044580;Note=In a sporadic cancer%3B somatic mutation. P->Q
P04637321245858Natural variantID=VAR_044580;Note=In a sporadic cancer%3B somatic mutation. P->Q
P04637321245858Natural variantID=VAR_044581;Note=In a sporadic cancer%3B somatic mutation. P->T
P04637321245858Natural variantID=VAR_044581;Note=In a sporadic cancer%3B somatic mutation. P->T
P04637321245959Natural variantID=VAR_044582;Note=In sporadic cancers%3B somatic mutation. G->C;Dbxref=dbSNP:rs1237722021
P04637321245959Natural variantID=VAR_044582;Note=In sporadic cancers%3B somatic mutation. G->C;Dbxref=dbSNP:rs1237722021
P04637321245959Natural variantID=VAR_044583;Note=In sporadic cancers%3B somatic mutation. G->D
P04637321245959Natural variantID=VAR_044583;Note=In sporadic cancers%3B somatic mutation. G->D
P04637321245959Natural variantID=VAR_045783;Note=In a sporadic cancer%3B somatic mutation%3B requires 2 nucleotide substitutions. G->N
P04637321245959Natural variantID=VAR_045783;Note=In a sporadic cancer%3B somatic mutation%3B requires 2 nucleotide substitutions. G->N
P04637321246060Natural variantID=VAR_044584;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321246060Natural variantID=VAR_044584;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321246060Natural variantID=VAR_044585;Note=In a sporadic cancer%3B somatic mutation. P->Q
P04637321246060Natural variantID=VAR_044585;Note=In a sporadic cancer%3B somatic mutation. P->Q
P04637321246060Natural variantID=VAR_005855;Note=In a sporadic cancer%3B somatic mutation. P->S
P04637321246060Natural variantID=VAR_005855;Note=In a sporadic cancer%3B somatic mutation. P->S
P04637321246161Natural variantID=VAR_044586;Note=In sporadic cancers%3B somatic mutation. D->G;Dbxref=dbSNP:rs1460793472
P04637321246161Natural variantID=VAR_044586;Note=In sporadic cancers%3B somatic mutation. D->G;Dbxref=dbSNP:rs1460793472
P04637321246161Natural variantID=VAR_044587;Note=In sporadic cancers%3B somatic mutation. D->N
P04637321246161Natural variantID=VAR_044587;Note=In sporadic cancers%3B somatic mutation. D->N
P04637321246262Natural variantID=VAR_044588;Note=In a sporadic cancer%3B somatic mutation. E->D
P04637321246262Natural variantID=VAR_044588;Note=In a sporadic cancer%3B somatic mutation. E->D
P04637321246363Natural variantID=VAR_044589;Note=In a sporadic cancer%3B somatic mutation. A->T;Dbxref=dbSNP:rs876658902
P04637321246363Natural variantID=VAR_044589;Note=In a sporadic cancer%3B somatic mutation. A->T;Dbxref=dbSNP:rs876658902
P04637321246363Natural variantID=VAR_044590;Note=In a sporadic cancer%3B somatic mutation. A->V;Dbxref=dbSNP:rs372201428
P04637321246363Natural variantID=VAR_044590;Note=In a sporadic cancer%3B somatic mutation. A->V;Dbxref=dbSNP:rs372201428
P04637321246565Natural variantID=VAR_044591;Note=In a sporadic cancer%3B somatic mutation. R->T;Dbxref=dbSNP:rs1060501210
P04637321246565Natural variantID=VAR_044591;Note=In a sporadic cancer%3B somatic mutation. R->T;Dbxref=dbSNP:rs1060501210
P04637321246666Natural variantID=VAR_044592;Note=In a sporadic cancer%3B somatic mutation. M->I
P04637321246666Natural variantID=VAR_044592;Note=In a sporadic cancer%3B somatic mutation. M->I
P04637321246666Natural variantID=VAR_044593;Note=In a sporadic cancer%3B somatic mutation. M->R
P04637321246666Natural variantID=VAR_044593;Note=In a sporadic cancer%3B somatic mutation. M->R
P04637321246767Natural variantID=VAR_044594;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321246767Natural variantID=VAR_044594;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321246767Natural variantID=VAR_044595;Note=In a sporadic cancer%3B somatic mutation. P->R
P04637321246767Natural variantID=VAR_044595;Note=In a sporadic cancer%3B somatic mutation. P->R
P04637321246767Natural variantID=VAR_044596;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321246767Natural variantID=VAR_044596;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321246868Natural variantID=VAR_044597;Note=In sporadic cancers%3B somatic mutation. E->G
P04637321246868Natural variantID=VAR_044597;Note=In sporadic cancers%3B somatic mutation. E->G
P04637321246868Natural variantID=VAR_044598;Note=In a sporadic cancer%3B somatic mutation. E->Q
P04637321246868Natural variantID=VAR_044598;Note=In a sporadic cancer%3B somatic mutation. E->Q
P04637321246969Natural variantID=VAR_044599;Note=In a sporadic cancer%3B somatic mutation. A->D
P04637321246969Natural variantID=VAR_044599;Note=In a sporadic cancer%3B somatic mutation. A->D
P04637321246969Natural variantID=VAR_044600;Note=In sporadic cancers%3B somatic mutation. A->G;Dbxref=dbSNP:rs756233241
P04637321246969Natural variantID=VAR_044600;Note=In sporadic cancers%3B somatic mutation. A->G;Dbxref=dbSNP:rs756233241
P04637321246969Natural variantID=VAR_044601;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321246969Natural variantID=VAR_044601;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321246969Natural variantID=VAR_044602;Note=In a sporadic cancer%3B somatic mutation. A->V;Dbxref=dbSNP:rs756233241
P04637321246969Natural variantID=VAR_044602;Note=In a sporadic cancer%3B somatic mutation. A->V;Dbxref=dbSNP:rs756233241
P04637321247070Natural variantID=VAR_044603;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321247070Natural variantID=VAR_044603;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321247171Natural variantID=VAR_044604;Note=In a sporadic cancer%3B somatic mutation. P->T
P04637321247171Natural variantID=VAR_044604;Note=In a sporadic cancer%3B somatic mutation. P->T
P04637321247272Natural variantID=VAR_045784;Note=In sporadic cancers%3B somatic mutation%3B requires 2 nucleotide substitutions. P->C;Dbxref=dbSNP:rs730882014
P04637321247272Natural variantID=VAR_045784;Note=In sporadic cancers%3B somatic mutation%3B requires 2 nucleotide substitutions. P->C;Dbxref=dbSNP:rs730882014
P04637321247272Natural variantID=VAR_045785;Note=In sporadic cancers%3B somatic mutation%3B requires 2 nucleotide substitutions. P->G
P04637321247272Natural variantID=VAR_045785;Note=In sporadic cancers%3B somatic mutation%3B requires 2 nucleotide substitutions. P->G
P04637321247272Natural variantID=VAR_045786;Note=In sporadic cancers%3B somatic mutation. P->H;Dbxref=dbSNP:rs1042522
P04637321247272Natural variantID=VAR_045786;Note=In sporadic cancers%3B somatic mutation. P->H;Dbxref=dbSNP:rs1042522
P04637321247272Natural variantID=VAR_045787;Note=In a sporadic cancer%3B somatic mutation. P->L
P04637321247272Natural variantID=VAR_045787;Note=In a sporadic cancer%3B somatic mutation. P->L
P04637321247272Natural variantID=VAR_005856;Note=P->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:16131611,ECO:0000269|PubMed:1999338,ECO:0000269|Ref.17;Dbxref=dbSNP:rs1042522,PMID:14702039,PMID:16131611,PMID:19
P04637321247272Natural variantID=VAR_005856;Note=P->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:16131611,ECO:0000269|PubMed:1999338,ECO:0000269|Ref.17;Dbxref=dbSNP:rs1042522,PMID:14702039,PMID:16131611,PMID:19
P04637321247373Natural variantID=VAR_044605;Note=In a sporadic cancer%3B somatic mutation. V->E
P04637321247373Natural variantID=VAR_044605;Note=In a sporadic cancer%3B somatic mutation. V->E
P04637321247373Natural variantID=VAR_044606;Note=In sporadic cancers%3B somatic mutation. V->L
P04637321247373Natural variantID=VAR_044606;Note=In sporadic cancers%3B somatic mutation. V->L
P04637321247373Natural variantID=VAR_044607;Note=In sporadic cancers%3B somatic mutation. V->M;Dbxref=dbSNP:rs587782423
P04637321247373Natural variantID=VAR_044607;Note=In sporadic cancers%3B somatic mutation. V->M;Dbxref=dbSNP:rs587782423
P04637321247474Natural variantID=VAR_044608;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321247474Natural variantID=VAR_044608;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321247575Natural variantID=VAR_044609;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321247575Natural variantID=VAR_044609;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321247575Natural variantID=VAR_044610;Note=In sporadic cancers%3B somatic mutation. P->R
P04637321247575Natural variantID=VAR_044610;Note=In sporadic cancers%3B somatic mutation. P->R
P04637321247575Natural variantID=VAR_044611;Note=In a sporadic cancer%3B somatic mutation. P->S
P04637321247575Natural variantID=VAR_044611;Note=In a sporadic cancer%3B somatic mutation. P->S
P04637321247676Natural variantID=VAR_044612;Note=In a sporadic cancer%3B somatic mutation. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2946935;Dbxref=PMID:2946935
P04637321247676Natural variantID=VAR_044612;Note=In a sporadic cancer%3B somatic mutation. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2946935;Dbxref=PMID:2946935
P04637321247676Natural variantID=VAR_044613;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321247676Natural variantID=VAR_044613;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321247777Natural variantID=VAR_044614;Note=In sporadic cancers%3B somatic mutation. P->A
P04637321247777Natural variantID=VAR_044614;Note=In sporadic cancers%3B somatic mutation. P->A
P04637321247878Natural variantID=VAR_044615;Note=In sporadic cancers%3B somatic mutation. A->V
P04637321247878Natural variantID=VAR_044615;Note=In sporadic cancers%3B somatic mutation. A->V
P04637321247979Natural variantID=VAR_044616;Note=In a sporadic cancer%3B somatic mutation. A->G
P04637321247979Natural variantID=VAR_044616;Note=In a sporadic cancer%3B somatic mutation. A->G
P04637321247979Natural variantID=VAR_005857;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321247979Natural variantID=VAR_005857;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321247979Natural variantID=VAR_044617;Note=In sporadic cancers%3B somatic mutation. A->V
P04637321247979Natural variantID=VAR_044617;Note=In sporadic cancers%3B somatic mutation. A->V
P04637321248080Natural variantID=VAR_044618;Note=In a sporadic cancer%3B somatic mutation. P->L
P04637321248080Natural variantID=VAR_044618;Note=In a sporadic cancer%3B somatic mutation. P->L
P04637321248080Natural variantID=VAR_044619;Note=In a sporadic cancer%3B somatic mutation. P->S;Dbxref=dbSNP:rs1060501204
P04637321248080Natural variantID=VAR_044619;Note=In a sporadic cancer%3B somatic mutation. P->S;Dbxref=dbSNP:rs1060501204
P04637321248181Natural variantID=VAR_044620;Note=In sporadic cancers%3B somatic mutation. T->I
P04637321248181Natural variantID=VAR_044620;Note=In sporadic cancers%3B somatic mutation. T->I
P04637321248282Natural variantID=VAR_044621;Note=In LFS%3B germline mutation and in sporadic cancers%3B somatic mutation. P->L;Dbxref=dbSNP:rs534447939
P04637321248282Natural variantID=VAR_044621;Note=In LFS%3B germline mutation and in sporadic cancers%3B somatic mutation. P->L;Dbxref=dbSNP:rs534447939
P04637321248282Natural variantID=VAR_044622;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321248282Natural variantID=VAR_044622;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321248383Natural variantID=VAR_044623;Note=In a sporadic cancer%3B somatic mutation. A->E;Dbxref=dbSNP:rs201717599
P04637321248383Natural variantID=VAR_044623;Note=In a sporadic cancer%3B somatic mutation. A->E;Dbxref=dbSNP:rs201717599
P04637321248383Natural variantID=VAR_044624;Note=In sporadic cancers%3B somatic mutation. A->V;Dbxref=dbSNP:rs201717599
P04637321248383Natural variantID=VAR_044624;Note=In sporadic cancers%3B somatic mutation. A->V;Dbxref=dbSNP:rs201717599
P04637321248484Natural variantID=VAR_044625;Note=In sporadic cancers%3B somatic mutation. A->G
P04637321248484Natural variantID=VAR_044625;Note=In sporadic cancers%3B somatic mutation. A->G
P04637321248484Natural variantID=VAR_044626;Note=In sporadic cancers%3B somatic mutation. A->V
P04637321248484Natural variantID=VAR_044626;Note=In sporadic cancers%3B somatic mutation. A->V
P04637321248585Natural variantID=VAR_044627;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321248585Natural variantID=VAR_044627;Note=In sporadic cancers%3B somatic mutation. P->L
P04637321248585Natural variantID=VAR_044628;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321248585Natural variantID=VAR_044628;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321248686Natural variantID=VAR_044629;Note=In a sporadic cancer%3B somatic mutation. A->V
P04637321248686Natural variantID=VAR_044629;Note=In a sporadic cancer%3B somatic mutation. A->V
P04637321248787Natural variantID=VAR_005858;Note=In sporadic cancers%3B somatic mutation. P->Q
P04637321248787Natural variantID=VAR_005858;Note=In sporadic cancers%3B somatic mutation. P->Q
P04637321248888Natural variantID=VAR_044630;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321248888Natural variantID=VAR_044630;Note=In a sporadic cancer%3B somatic mutation. A->T
P04637321248888Natural variantID=VAR_044631;Note=In sporadic cancers%3B somatic mutation. A->V
P04637321248888Natural variantID=VAR_044631;Note=In sporadic cancers%3B somatic mutation. A->V
P04637321248989Natural variantID=VAR_044632;Note=In sporadic cancers%3B somatic mutation. P->L;Dbxref=dbSNP:rs730881994
P04637321248989Natural variantID=VAR_044632;Note=In sporadic cancers%3B somatic mutation. P->L;Dbxref=dbSNP:rs730881994
P04637321248989Natural variantID=VAR_044633;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321248989Natural variantID=VAR_044633;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321249090Natural variantID=VAR_044634;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321249090Natural variantID=VAR_044634;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321249090Natural variantID=VAR_044635;Note=In a sporadic cancer%3B somatic mutation. S->Y
P04637321249090Natural variantID=VAR_044635;Note=In a sporadic cancer%3B somatic mutation. S->Y
P04637321249191Natural variantID=VAR_044636;Note=In a sporadic cancer%3B somatic mutation. W->C
P04637321249191Natural variantID=VAR_044636;Note=In a sporadic cancer%3B somatic mutation. W->C
P04637321249292Natural variantID=VAR_044637;Note=In a sporadic cancer%3B somatic mutation. P->A
P04637321249292Natural variantID=VAR_044637;Note=In a sporadic cancer%3B somatic mutation. P->A
P04637321249292Natural variantID=VAR_044638;Note=In a sporadic cancer%3B somatic mutation. P->L;Dbxref=dbSNP:rs1210700121
P04637321249292Natural variantID=VAR_044638;Note=In a sporadic cancer%3B somatic mutation. P->L;Dbxref=dbSNP:rs1210700121
P04637321249292Natural variantID=VAR_044639;Note=In a sporadic cancer%3B somatic mutation. P->S
P04637321249292Natural variantID=VAR_044639;Note=In a sporadic cancer%3B somatic mutation. P->S
P04637321249393Natural variantID=VAR_044640;Note=In a sporadic cancer%3B somatic mutation. L->M
P04637321249393Natural variantID=VAR_044640;Note=In a sporadic cancer%3B somatic mutation. L->M
P04637321249393Natural variantID=VAR_044641;Note=In a sporadic cancer%3B somatic mutation. L->P
P04637321249393Natural variantID=VAR_044641;Note=In a sporadic cancer%3B somatic mutation. L->P
P04637321249494Natural variantID=VAR_044642;Note=In sporadic cancers%3B somatic mutation. S->L
P04637321249494Natural variantID=VAR_044642;Note=In sporadic cancers%3B somatic mutation. S->L
P04637321249494Natural variantID=VAR_005859;Note=In sporadic cancers%3B somatic mutation. S->T
P04637321249494Natural variantID=VAR_005859;Note=In sporadic cancers%3B somatic mutation. S->T
P04637321249595Natural variantID=VAR_044643;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321249595Natural variantID=VAR_044643;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321249595Natural variantID=VAR_044644;Note=In a sporadic cancer%3B somatic mutation. S->T
P04637321249595Natural variantID=VAR_044644;Note=In a sporadic cancer%3B somatic mutation. S->T
P04637321249696Natural variantID=VAR_044645;Note=In a sporadic cancer%3B somatic mutation. S->C
P04637321249696Natural variantID=VAR_044645;Note=In a sporadic cancer%3B somatic mutation. S->C
P04637321249696Natural variantID=VAR_044646;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321249696Natural variantID=VAR_044646;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321249696Natural variantID=VAR_044647;Note=In a sporadic cancer%3B somatic mutation. S->P
P04637321249696Natural variantID=VAR_044647;Note=In a sporadic cancer%3B somatic mutation. S->P
P04637321249797Natural variantID=VAR_044648;Note=In a sporadic cancer%3B somatic mutation. V->A
P04637321249797Natural variantID=VAR_044648;Note=In a sporadic cancer%3B somatic mutation. V->A
P04637321249797Natural variantID=VAR_044649;Note=In a sporadic cancer%3B somatic mutation. V->F
P04637321249797Natural variantID=VAR_044649;Note=In a sporadic cancer%3B somatic mutation. V->F
P04637321249797Natural variantID=VAR_044650;Note=In familial cancer not matching LFS%3B germline mutation and in a sporadic cancer%3B somatic mutation. V->I
P04637321249797Natural variantID=VAR_044650;Note=In familial cancer not matching LFS%3B germline mutation and in a sporadic cancer%3B somatic mutation. V->I
P04637321249898Natural variantID=VAR_044651;Note=In sporadic cancers%3B somatic mutation. P->L;Dbxref=dbSNP:rs1245723119
P04637321249898Natural variantID=VAR_044651;Note=In sporadic cancers%3B somatic mutation. P->L;Dbxref=dbSNP:rs1245723119
P04637321249898Natural variantID=VAR_044652;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321249898Natural variantID=VAR_044652;Note=In sporadic cancers%3B somatic mutation. P->S
P04637321249999Natural variantID=VAR_044653;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321249999Natural variantID=VAR_044653;Note=In sporadic cancers%3B somatic mutation. S->F
P04637321249999Natural variantID=VAR_044654;Note=In a sporadic cancer%3B somatic mutation. S->P
P04637321249999Natural variantID=VAR_044654;Note=In a sporadic cancer%3B somatic mutation. S->P
P0463732124100100Natural variantID=VAR_044655;Note=In a sporadic cancer%3B somatic mutation. Q->R
P0463732124100100Natural variantID=VAR_044655;Note=In a sporadic cancer%3B somatic mutation. Q->R
P0463732124101101Natural variantID=VAR_044656;Note=In a sporadic cancer%3B somatic mutation. K->N;Dbxref=dbSNP:rs878854069
P0463732124101101Natural variantID=VAR_044656;Note=In a sporadic cancer%3B somatic mutation. K->N;Dbxref=dbSNP:rs878854069
P0463732124101101Natural variantID=VAR_044657;Note=In sporadic cancers%3B somatic mutation. K->R
P0463732124101101Natural variantID=VAR_044657;Note=In sporadic cancers%3B somatic mutation. K->R
P0463732124102102Natural variantID=VAR_044658;Note=In sporadic cancers%3B somatic mutation. T->I;Dbxref=dbSNP:rs786202717
P0463732124102102Natural variantID=VAR_044658;Note=In sporadic cancers%3B somatic mutation. T->I;Dbxref=dbSNP:rs786202717
P0463732124104104Natural variantID=VAR_044659;Note=In sporadic cancers%3B somatic mutation. Q->H
P0463732124104104Natural variantID=VAR_044659;Note=In sporadic cancers%3B somatic mutation. Q->H
P0463732124104104Natural variantID=VAR_044660;Note=In a sporadic cancer%3B somatic mutation. Q->L
P0463732124104104Natural variantID=VAR_044660;Note=In a sporadic cancer%3B somatic mutation. Q->L
P0463732124105105Natural variantID=VAR_044661;Note=In LFS%3B germline mutation and in sporadic cancers%3B somatic mutation. G->C
P0463732124105105Natural variantID=VAR_044661;Note=In LFS%3B germline mutation and in sporadic cancers%3B somatic mutation. G->C
P0463732124105105Natural variantID=VAR_044662;Note=In sporadic cancers%3B somatic mutation. G->D;Dbxref=dbSNP:rs587781504
P0463732124105105Natural variantID=VAR_044662;Note=In sporadic cancers%3B somatic mutation. G->D;Dbxref=dbSNP:rs587781504
P0463732124105105Natural variantID=VAR_044663;Note=In sporadic cancers%3B somatic mutation. G->R;Dbxref=dbSNP:rs1060501195
P0463732124105105Natural variantID=VAR_044663;Note=In sporadic cancers%3B somatic mutation. G->R;Dbxref=dbSNP:rs1060501195
P0463732124105105Natural variantID=VAR_044664;Note=In a sporadic cancer%3B somatic mutation. G->S
P0463732124105105Natural variantID=VAR_044664;Note=In a sporadic cancer%3B somatic mutation. G->S
P0463732124105105Natural variantID=VAR_044665;Note=In sporadic cancers%3B somatic mutation. G->V
P0463732124105105Natural variantID=VAR_044665;Note=In sporadic cancers%3B somatic mutation. G->V
P0463732124106106Natural variantID=VAR_044666;Note=In a sporadic cancer%3B somatic mutation. S->G
P0463732124106106Natural variantID=VAR_044666;Note=In a sporadic cancer%3B somatic mutation. S->G
P0463732124106106Natural variantID=VAR_044667;Note=In a familial cancer not matching LFS%3B germline mutation and in sporadic cancers%3B somatic mutation. S->R
P0463732124106106Natural variantID=VAR_044667;Note=In a familial cancer not matching LFS%3B germline mutation and in sporadic cancers%3B somatic mutation. S->R
P0463732124107107Natural variantID=VAR_044668;Note=In a sporadic cancer%3B somatic mutation. Y->C;Dbxref=dbSNP:rs587782447
P0463732124107107Natural variantID=VAR_044668;Note=In a sporadic cancer%3B somatic mutation. Y->C;Dbxref=dbSNP:rs587782447
P0463732124107107Natural variantID=VAR_044669;Note=In sporadic cancers%3B somatic mutation. Y->D
P0463732124107107Natural variantID=VAR_044669;Note=In sporadic cancers%3B somatic mutation. Y->D
P0463732124107107Natural variantID=VAR_044670;Note=In a sporadic cancer%3B somatic mutation. Y->H;Dbxref=dbSNP:rs368771578
P0463732124107107Natural variantID=VAR_044670;Note=In a sporadic cancer%3B somatic mutation. Y->H;Dbxref=dbSNP:rs368771578
P0463732124108108Natural variantID=VAR_044671;Note=In a sporadic cancer%3B somatic mutation. G->D
P0463732124108108Natural variantID=VAR_044671;Note=In a sporadic cancer%3B somatic mutation. G->D
P0463732124108108Natural variantID=VAR_044672;Note=In sporadic cancers%3B somatic mutation. G->S;Dbxref=dbSNP:rs587782461
P0463732124108108Natural variantID=VAR_044672;Note=In sporadic cancers%3B somatic mutation. G->S;Dbxref=dbSNP:rs587782461
P0463732124109109Natural variantID=VAR_044673;Note=In sporadic cancers%3B somatic mutation. F->C
P0463732124109109Natural variantID=VAR_044673;Note=In sporadic cancers%3B somatic mutation. F->C
P0463732124109109Natural variantID=VAR_044674;Note=In a sporadic cancer%3B somatic mutation. F->L
P0463732124109109Natural variantID=VAR_044674;Note=In a sporadic cancer%3B somatic mutation. F->L
P0463732124109109Natural variantID=VAR_044675;Note=In sporadic cancers%3B somatic mutation. F->S;Dbxref=dbSNP:rs1064796722
P0463732124109109Natural variantID=VAR_044675;Note=In sporadic cancers%3B somatic mutation. F->S;Dbxref=dbSNP:rs1064796722
P0463732124110110Natural variantID=VAR_005860;Note=In sporadic cancers%3B somatic mutation. R->C;Dbxref=dbSNP:rs587781371
P0463732124110110Natural variantID=VAR_005860;Note=In sporadic cancers%3B somatic mutation. R->C;Dbxref=dbSNP:rs587781371
P0463732124110110Natural variantID=VAR_044676;Note=In a sporadic cancer%3B somatic mutation. R->G
P0463732124110110Natural variantID=VAR_044676;Note=In a sporadic cancer%3B somatic mutation. R->G
P0463732124110110Natural variantID=VAR_044677;Note=In sporadic cancers%3B somatic mutation. R->H;Dbxref=dbSNP:rs11540654
P0463732124110110Natural variantID=VAR_044677;Note=In sporadic cancers%3B somatic mutation. R->H;Dbxref=dbSNP:rs11540654
P0463732124110110Natural variantID=VAR_005861;Note=In a familial cancer not matching LFS%3B germline mutation and in sporadic cancers%3B somatic mutation%3B does not induce SNAI1 degradation. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20385133;Dbxref=dbSNP:rs11540654,PMI
P0463732124110110Natural variantID=VAR_005861;Note=In a familial cancer not matching LFS%3B germline mutation and in sporadic cancers%3B somatic mutation%3B does not induce SNAI1 degradation. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20385133;Dbxref=dbSNP:rs11540654,PMI
P0463732124110110Natural variantID=VAR_005862;Note=In sporadic cancers%3B somatic mutation. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=dbSNP:rs11540654,PMID:17224074
P0463732124110110Natural variantID=VAR_005862;Note=In sporadic cancers%3B somatic mutation. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=dbSNP:rs11540654,PMID:17224074
P0463732124110110Natural variantID=VAR_044678;Note=In a sporadic cancer%3B somatic mutation. R->S;Dbxref=dbSNP:rs587781371
P0463732124110110Natural variantID=VAR_044678;Note=In a sporadic cancer%3B somatic mutation. R->S;Dbxref=dbSNP:rs587781371
P0463732124111111Natural variantID=VAR_044679;Note=In a sporadic cancer%3B somatic mutation. L->M
P0463732124111111Natural variantID=VAR_044679;Note=In a sporadic cancer%3B somatic mutation. L->M
P0463732124111111Natural variantID=VAR_044680;Note=In sporadic cancers%3B somatic mutation. L->P
P0463732124111111Natural variantID=VAR_044680;Note=In sporadic cancers%3B somatic mutation. L->P
P0463732124111111Natural variantID=VAR_044681;Note=In sporadic cancers%3B somatic mutation. L->Q
P0463732124111111Natural variantID=VAR_044681;Note=In sporadic cancers%3B somatic mutation. L->Q
P0463732124111111Natural variantID=VAR_044682;Note=In sporadic cancers%3B somatic mutation. L->R;Dbxref=dbSNP:rs1057519997
P0463732124111111Natural variantID=VAR_044682;Note=In sporadic cancers%3B somatic mutation. L->R;Dbxref=dbSNP:rs1057519997
P0463732124112112Natural variantID=VAR_044683;Note=In sporadic cancers%3B somatic mutation. G->D
P0463732124112112Natural variantID=VAR_044683;Note=In sporadic cancers%3B somatic mutation. G->D
P0463732124112112Natural variantID=VAR_044684;Note=In sporadic cancers%3B somatic mutation. G->S;Dbxref=dbSNP:rs1423803759
P0463732124112112Natural variantID=VAR_044684;Note=In sporadic cancers%3B somatic mutation. G->S;Dbxref=dbSNP:rs1423803759
P0463732124113113Natural variantID=VAR_005863;Note=In sporadic cancers%3B somatic mutation. F->C
P0463732124113113Natural variantID=VAR_005863;Note=In sporadic cancers%3B somatic mutation. F->C
P0463732124113113Natural variantID=VAR_045788;Note=In a sporadic cancer%3B somatic mutation%3B requires 2 nucleotide substitutions. F->G
P0463732124113113Natural variantID=VAR_045788;Note=In a sporadic cancer%3B somatic mutation%3B requires 2 nucleotide substitutions. F->G
P0463732124113113Natural variantID=VAR_044685;Note=In a sporadic cancer%3B somatic mutation. F->I
P0463732124113113Natural variantID=VAR_044685;Note=In a sporadic cancer%3B somatic mutation. F->I
P0463732124113113Natural variantID=VAR_044686;Note=In sporadic cancers%3B somatic mutation. F->L
P0463732124113113Natural variantID=VAR_044686;Note=In sporadic cancers%3B somatic mutation. F->L
P0463732124113113Natural variantID=VAR_044687;Note=In sporadic cancers%3B somatic mutation. F->S
P0463732124113113Natural variantID=VAR_044687;Note=In sporadic cancers%3B somatic mutation. F->S
P0463732124113113Natural variantID=VAR_033033;Note=In sporadic cancers%3B somatic mutation. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=dbSNP:rs587781642,PMID:17224074
P0463732124113113Natural variantID=VAR_033033;Note=In sporadic cancers%3B somatic mutation. F->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17224074;Dbxref=dbSNP:rs587781642,PMID:17224074
P0463732124115115Natural variantID=VAR_044688;Note=In sporadic cancers%3B somatic mutation. H->Y
P0463732124115115Natural variantID=VAR_044688;Note=In sporadic cancers%3B somatic mutation. H->Y
P0463732124116116Natural variantID=VAR_044689;Note=In sporadic cancers%3B somatic mutation. S->C
P0463732124116116Natural variantID=VAR_044689;Note=In sporadic cancers%3B somatic mutation. S->C
P0463732124116116Natural variantID=VAR_044690;Note=In a sporadic cancer%3B somatic mutation. S->F
P0463732124116116Natural variantID=VAR_044690;Note=In a sporadic cancer%3B somatic mutation. S->F
P0463732124116116Natural variantID=VAR_044691;Note=In a sporadic cancer%3B somatic mutation. S->P
P0463732124116116Natural variantID=VAR_044691;Note=In a sporadic cancer%3B somatic mutation. S->P
P0463732124117117Natural variantID=VAR_044692;Note=In sporadic cancers%3B somatic mutation. G->E;Dbxref=dbSNP:rs755238756
P0463732124117117Natural variantID=VAR_044692;Note=In sporadic cancers%3B somatic mutation. G->E;Dbxref=dbSNP:rs755238756
P0463732124117117Natural variantID=VAR_044693;Note=In sporadic cancers%3B somatic mutation. G->R
P0463732124117117Natural variantID=VAR_044693;Note=In sporadic cancers%3B somatic mutation. G->R
P0463732124118118Natural variantID=VAR_044694;Note=In a sporadic cancer%3B somatic mutation. T->A
P0463732124118118Natural variantID=VAR_044694;Note=In a sporadic cancer%3B somatic mutation. T->A
P0463732124118118Natural variantID=VAR_044695;Note=In sporadic cancers%3B somatic mutation. T->I;Dbxref=dbSNP:rs1064794141
P0463732124118118Natural variantID=VAR_044695;Note=In sporadic cancers%3B somatic mutation. T->I;Dbxref=dbSNP:rs1064794141
P0463732124118118Natural variantID=VAR_044696;Note=In a sporadic cancer%3B somatic mutation. T->R
P0463732124118118Natural variantID=VAR_044696;Note=In a sporadic cancer%3B somatic mutation. T->R
P0463732124119119Natural variantID=VAR_044697;Note=In a sporadic cancer%3B somatic mutation. A->D
P0463732124119119Natural variantID=VAR_044697;Note=In a sporadic cancer%3B somatic mutation. A->D
P0463732124119119Natural variantID=VAR_044698;Note=In a sporadic cancer%3B somatic mutation. A->T
P0463732124119119Natural variantID=VAR_044698;Note=In a sporadic cancer%3B somatic mutation. A->T
P0463732124120120Natural variantID=VAR_044699;Note=In sporadic cancers%3B somatic mutation. K->E;Dbxref=dbSNP:rs121912658
P0463732124120120Natural variantID=VAR_044699;Note=In sporadic cancers%3B somatic mutation. K->E;Dbxref=dbSNP:rs121912658
P0463732124120120Natural variantID=VAR_044700;Note=In sporadic cancers%3B somatic mutation. K->M
P0463732124120120Natural variantID=VAR_044700;Note=In sporadic cancers%3B somatic mutation. K->M
P0463732124120120Natural variantID=VAR_044701;Note=In a sporadic cancer%3B somatic mutation. K->Q
P0463732124120120Natural variantID=VAR_044701;Note=In a sporadic cancer%3B somatic mutation. K->Q
P0463732124120120Natural variantID=VAR_044702;Note=In sporadic cancers%3B somatic mutation. K->R
P0463732124120120Natural variantID=VAR_044702;Note=In sporadic cancers%3B somatic mutation. K->R
P0463732124121121Natural variantID=VAR_044703;Note=In sporadic cancers%3B somatic mutation. S->F
P0463732124121121Natural variantID=VAR_044703;Note=In sporadic cancers%3B somatic mutation. S->F
P0463732124122122Natural variantID=VAR_044704;Note=In a sporadic cancer%3B somatic mutation. V->L
P0463732124122122Natural variantID=VAR_044704;Note=In a sporadic cancer%3B somatic mutation. V->L
P0463732124123123Natural variantID=VAR_044705;Note=In a sporadic cancer%3B somatic mutation. T->I
P0463732124123123Natural variantID=VAR_044705;Note=In a sporadic cancer%3B somatic mutation. T->I
P0463732124123123Natural variantID=VAR_044706;Note=In a sporadic cancer%3B somatic mutation. T->N
P0463732124123123Natural variantID=VAR_044706;Note=In a sporadic cancer%3B somatic mutation. T->N
P0463732124124124Natural variantID=VAR_044707;Note=In a sporadic cancer%3B somatic mutation. C->G;Dbxref=dbSNP:rs730881997
P0463732124124124Natural variantID=VAR_044707;Note=In a sporadic cancer%3B somatic mutation. C->G;Dbxref=dbSNP:rs730881997
P0463732124124124Natural variantID=VAR_044708;Note=In sporadic cancers%3B somatic mutation. C->R
P0463732124124124Natural variantID=VAR_044708;Note=In sporadic cancers%3B somatic mutation. C->R
P0463732124124124Natural variantID=VAR_044709;Note=In sporadic cancers%3B somatic mutation. C->S;Dbxref=dbSNP:rs730881997
P0463732124124124Natural variantID=VAR_044709;Note=In sporadic cancers%3B somatic mutation. C->S;Dbxref=dbSNP:rs730881997
P0463732124124124Natural variantID=VAR_044710;Note=In a sporadic cancer%3B somatic mutation. C->W
P0463732124124124Natural variantID=VAR_044710;Note=In a sporadic cancer%3B somatic mutation. C->W
P0463732124124124Natural variantID=VAR_044711;Note=In a sporadic cancer%3B somatic mutation. C->Y
P0463732124124124Natural variantID=VAR_044711;Note=In a sporadic cancer%3B somatic mutation. C->Y
P04637321241320RegionNote=Interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25732823;Dbxref=PMID:25732823
P04637321241320RegionNote=Interaction with CCAR2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25732823;Dbxref=PMID:25732823
P0463732124183RegionNote=Interaction with HRMT1L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15186775;Dbxref=PMID:15186775
P0463732124183RegionNote=Interaction with HRMT1L2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15186775;Dbxref=PMID:15186775
P0463732124144RegionNote=Transcription activation (acidic)
P0463732124144RegionNote=Transcription activation (acidic)
P046373212466110RegionNote=Interaction with WWOX
P046373212466110RegionNote=Interaction with WWOX
P0463732124100370RegionNote=Interaction with HIPK1;Ontology_term=ECO:0000250;evidence=ECO:0000250
P0463732124100370RegionNote=Interaction with HIPK1;Ontology_term=ECO:0000250;evidence=ECO:0000250
P0463732124100300RegionNote=Required for interaction with ZNF385A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17719541;Dbxref=PMID:17719541
P0463732124100300RegionNote=Required for interaction with ZNF385A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17719541;Dbxref=PMID:17719541
P0463732124113236RegionNote=Required for interaction with FBXO42;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19509332;Dbxref=PMID:19509332
P0463732124113236RegionNote=Required for interaction with FBXO42;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19509332;Dbxref=PMID:19509332
P0463732124116292RegionNote=Interaction with AXIN1;Ontology_term=ECO:0000250;evidence=ECO:0000250
P0463732124116292RegionNote=Interaction with AXIN1;Ontology_term=ECO:0000250;evidence=ECO:0000250
P0463732124120120SiteNote=Interaction with DNA
P0463732124120120SiteNote=Interaction with DNA
P0463732124105108TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D06
P0463732124105108TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D06
P0463732124121123TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q05
P0463732124121123TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3Q05

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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3'-UTR located exon skipping events that lost miRNA binding sites in TP53

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for TP53

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for TP53

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TP53

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for TP53

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for TP53

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P04637approved|vet_approvedDB00945Acetylsalicylic acidsmall moleculeP04637
P04637approved|investigationalDB01593Zincsmall moleculeP04637
P04637approved|investigationalDB14487Zinc acetatesmall moleculeP04637
P04637approved|investigationalDB14533Zinc chloridesmall moleculeP04637

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RelatedDiseases for TP53

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource