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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ANXA2

check button Gene summary
Gene informationGene symbol

ANXA2

Gene ID

302

Gene nameannexin A2
SynonymsANX2|ANX2L4|CAL1H|HEL-S-270|LIP2|LPC2|LPC2D|P36|PAP-IV
Cytomap

15q22.2

Type of geneprotein-coding
Descriptionannexin A2annexin IIannexin-2calpactin I heavy chaincalpactin I heavy polypeptidecalpactin-1 heavy chainchromobindin 8epididymis secretory protein Li 270lipocortin IIplacental anticoagulant protein IVprotein I
Modification date20180522
UniProtAcc

P07355

ContextPubMed: ANXA2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
ANXA2

GO:0001921

positive regulation of receptor recycling

22848640

ANXA2

GO:0031340

positive regulation of vesicle fusion

2138016

ANXA2

GO:0032804

negative regulation of low-density lipoprotein particle receptor catabolic process

22848640

ANXA2

GO:0036035

osteoclast development

7961821

ANXA2

GO:0051290

protein heterotetramerization

23091277|23861394

ANXA2

GO:1905581

positive regulation of low-density lipoprotein particle clearance

22848640

ANXA2

GO:1905597

positive regulation of low-density lipoprotein particle receptor binding

22848640

ANXA2

GO:1905602

positive regulation of receptor-mediated endocytosis involved in cholesterol transport

22848640


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Exon skipping events across known transcript of Ensembl for ANXA2 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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

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Gene isoform structures and expression levels for ANXA2

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for ANXA2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1277151560639865:60639888:60641273:60641396:60643391:6064345060641273:60641396ENSG00000182718.12ENST00000421017.2,ENST00000396024.3,ENST00000451270.2,ENST00000560014.1,ENST00000332680.4
exon_skip_1277211560639540:60639888:60643391:60643450:60643922:6064401860643391:60643450ENSG00000182718.12ENST00000504475.2
exon_skip_1277241560641273:60641396:60643391:60643450:60643922:6064401860643391:60643450ENSG00000182718.12ENST00000421017.2,ENST00000396024.3,ENST00000451270.2,ENST00000560014.1,ENST00000332680.4
exon_skip_1277341560643391:60643450:60643922:60644018:60644581:6064467560643922:60644018ENSG00000182718.12ENST00000421017.2,ENST00000396024.3,ENST00000559176.1,ENST00000451270.2,ENST00000504475.2,ENST00000332680.4
exon_skip_1277391560644581:60644675:60646352:60646412:60648117:6064819760646352:60646412ENSG00000182718.12ENST00000561022.1,ENST00000421017.2,ENST00000396024.3,ENST00000559176.1,ENST00000451270.2,ENST00000504475.2,ENST00000560367.2,ENST00000560014.1,ENST00000558985.1,ENST00000560466.1,ENST00000332680.4,ENST00000558132.1,ENST00000559818.1
exon_skip_1277461560646352:60646412:60648117:60648197:60649344:6064943560648117:60648197ENSG00000182718.12ENST00000561022.1,ENST00000421017.2,ENST00000396024.3,ENST00000559176.1,ENST00000451270.2,ENST00000504475.2,ENST00000560367.2,ENST00000560014.1,ENST00000558985.1,ENST00000558503.1,ENST00000560466.1,ENST00000332680.4,ENST00000558132.1,ENST00000559818.1,ENS
exon_skip_1277571560649392:60649435:60653129:60653253:60656627:6065672260653129:60653253ENSG00000182718.12ENST00000558503.1
exon_skip_1277631560649392:60649435:60653139:60653253:60656627:6065672260653139:60653253ENSG00000182718.12ENST00000559113.1,ENST00000561022.1,ENST00000558558.1,ENST00000421017.2,ENST00000396024.3,ENST00000559350.1,ENST00000559176.1,ENST00000558986.1,ENST00000559559.1,ENST00000451270.2,ENST00000504475.2,ENST00000560367.2,ENST00000559725.1,ENST00000560014.1,ENS
exon_skip_1277641560649392:60649435:60653139:60653253:60678226:6067828560653139:60653253ENSG00000182718.12ENST00000558132.1
exon_skip_1277701560653165:60653253:60656627:60656722:60678226:6067828560656627:60656722ENSG00000182718.12ENST00000559113.1,ENST00000559725.1,ENST00000558985.1
exon_skip_1277721560653165:60653253:60656627:60656722:60690141:6069016360656627:60656722ENSG00000182718.12ENST00000560466.1
exon_skip_1277751560653165:60653253:60678226:60678285:60690141:6069016360678226:60678285ENSG00000182718.12ENST00000558132.1
exon_skip_1277791560656674:60656722:60666817:60666881:60674540:6067462360666817:60666881ENSG00000182718.12ENST00000561022.1
exon_skip_1277861560656674:60656722:60674540:60674640:60678226:6067828560674540:60674640ENSG00000182718.12ENST00000559956.1,ENST00000558558.1,ENST00000421017.2,ENST00000396024.3,ENST00000559350.1,ENST00000558986.1,ENST00000559559.1,ENST00000559370.1,ENST00000557937.1,ENST00000451270.2,ENST00000560367.2,ENST00000557904.1,ENST00000559467.1,ENST00000560014.1,ENS
exon_skip_1277941560656674:60656722:60678226:60678285:60688349:6068862660678226:60678285ENSG00000182718.12ENST00000561445.1
exon_skip_1277951560656674:60656722:60678226:60678285:60689456:6068953760678226:60678285ENSG00000182718.12ENST00000559113.1
exon_skip_1277971560656674:60656722:60678226:60678285:60690141:6069016360678226:60678285ENSG00000182718.12ENST00000558985.1
exon_skip_1278041560656674:60656722:60689456:60689537:60690141:6069016360689456:60689537ENSG00000182718.12ENST00000558998.1
exon_skip_1278171560666817:60666881:60674540:60674640:60678226:6067828560674540:60674640ENSG00000182718.12ENST00000561022.1
exon_skip_1278331560674546:60674640:60678226:60678285:60688349:6068862660678226:60678285ENSG00000182718.12ENST00000558169.1,ENST00000560468.1
exon_skip_1278341560674546:60674640:60678226:60678285:60688478:6068862660678226:60678285ENSG00000182718.12ENST00000559956.1,ENST00000557906.1
exon_skip_1278351560674546:60674640:60678226:60678285:60689456:6068953760678226:60678285ENSG00000182718.12ENST00000421017.2,ENST00000560165.1
exon_skip_1278361560674546:60674640:60678226:60678285:60690141:6069016360678226:60678285ENSG00000182718.12ENST00000561022.1,ENST00000559559.1,ENST00000557937.1,ENST00000451270.2
exon_skip_1278491560678226:60678285:60682411:60682516:60683221:6068332660682411:60682516ENSG00000182718.12ENST00000559350.1
exon_skip_1278501560678226:60678285:60682411:60682516:60683306:6068335060682411:60682516ENSG00000182718.12ENST00000558986.1
exon_skip_1278581560678231:60678285:60682411:60682516:60689456:6068953760682411:60682516ENSG00000182718.12ENST00000558503.1
exon_skip_1278601560678231:60678285:60682411:60682516:60690141:6069016360682411:60682516ENSG00000182718.12ENST00000559725.1
exon_skip_1278751560678231:60678285:60685236:60685639:60690141:6069016360685236:60685639ENSG00000182718.12ENST00000559780.1
exon_skip_1278851560678231:60678285:60686772:60686894:60688478:6068862660686772:60686894ENSG00000182718.12ENST00000559370.1,ENST00000559467.1
exon_skip_1278961560678231:60678285:60688349:60688626:60689456:6068953760688349:60688626ENSG00000182718.12ENST00000558169.1
exon_skip_1278991560678231:60678285:60688349:60688626:60690141:6069016360688349:60688626ENSG00000182718.12ENST00000561445.1,ENST00000560468.1
exon_skip_1279021560678231:60678285:60688478:60688626:60689456:6068953760688478:60688626ENSG00000182718.12ENST00000557906.1
exon_skip_1279051560678231:60678285:60688478:60688626:60690141:6069016360688478:60688626ENSG00000182718.12ENST00000559956.1
exon_skip_1279121560678231:60678285:60688571:60688626:60690141:6069016360688571:60688626ENSG00000182718.12ENST00000558558.1
exon_skip_1279251560678231:60678285:60689456:60689537:60690069:6069016760689456:60689537ENSG00000182718.12ENST00000560165.1
exon_skip_1279271560678231:60678285:60689456:60689537:60690141:6069016360689456:60689537ENSG00000182718.12ENST00000559113.1,ENST00000421017.2
exon_skip_1279541560682411:60682516:60689456:60689537:60690141:6069016360689456:60689537ENSG00000182718.12ENST00000558503.1
exon_skip_1279601560685437:60685639:60688349:60688626:60689456:6068953760688349:60688626ENSG00000182718.12ENST00000557986.1
exon_skip_1279701560686772:60686894:60688478:60688626:60689456:6068953760688478:60688626ENSG00000182718.12ENST00000559467.1
exon_skip_1279771560688580:60688626:60689456:60689537:60690141:6069016360689456:60689537ENSG00000182718.12ENST00000560936.1,ENST00000558169.1,ENST00000559467.1,ENST00000557906.1,ENST00000557986.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for ANXA2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1277151560639865:60639888:60641273:60641396:60643391:6064345060641273:60641396ENSG00000182718.12ENST00000396024.3,ENST00000451270.2,ENST00000332680.4,ENST00000560014.1,ENST00000421017.2
exon_skip_1277211560639540:60639888:60643391:60643450:60643922:6064401860643391:60643450ENSG00000182718.12ENST00000504475.2
exon_skip_1277241560641273:60641396:60643391:60643450:60643922:6064401860643391:60643450ENSG00000182718.12ENST00000396024.3,ENST00000451270.2,ENST00000332680.4,ENST00000560014.1,ENST00000421017.2
exon_skip_1277341560643391:60643450:60643922:60644018:60644581:6064467560643922:60644018ENSG00000182718.12ENST00000396024.3,ENST00000451270.2,ENST00000332680.4,ENST00000504475.2,ENST00000421017.2,ENST00000559176.1
exon_skip_1277391560644581:60644675:60646352:60646412:60648117:6064819760646352:60646412ENSG00000182718.12ENST00000396024.3,ENST00000451270.2,ENST00000332680.4,ENST00000504475.2,ENST00000560014.1,ENST00000421017.2,ENST00000559176.1,ENST00000558985.1,ENST00000560466.1,ENST00000559818.1,ENST00000558132.1,ENST00000561022.1,ENST00000560367.2
exon_skip_1277461560646352:60646412:60648117:60648197:60649344:6064943560648117:60648197ENSG00000182718.12ENST00000396024.3,ENST00000451270.2,ENST00000332680.4,ENST00000504475.2,ENST00000560014.1,ENST00000421017.2,ENST00000559176.1,ENST00000558985.1,ENST00000560466.1,ENST00000559818.1,ENST00000558132.1,ENST00000561022.1,ENST00000560367.2,ENST00000558503.1,ENS
exon_skip_1277571560649392:60649435:60653129:60653253:60656627:6065672260653129:60653253ENSG00000182718.12ENST00000558503.1
exon_skip_1277631560649392:60649435:60653139:60653253:60656627:6065672260653139:60653253ENSG00000182718.12ENST00000396024.3,ENST00000451270.2,ENST00000332680.4,ENST00000504475.2,ENST00000560014.1,ENST00000421017.2,ENST00000559176.1,ENST00000558985.1,ENST00000560466.1,ENST00000559818.1,ENST00000561022.1,ENST00000560367.2,ENST00000558998.1,ENST00000559559.1,ENS
exon_skip_1277641560649392:60649435:60653139:60653253:60678226:6067828560653139:60653253ENSG00000182718.12ENST00000558132.1
exon_skip_1277701560653165:60653253:60656627:60656722:60678226:6067828560656627:60656722ENSG00000182718.12ENST00000558985.1,ENST00000559113.1,ENST00000559725.1
exon_skip_1277791560656674:60656722:60666817:60666881:60674540:6067462360666817:60666881ENSG00000182718.12ENST00000561022.1
exon_skip_1277861560656674:60656722:60674540:60674640:60678226:6067828560674540:60674640ENSG00000182718.12ENST00000396024.3,ENST00000451270.2,ENST00000332680.4,ENST00000560014.1,ENST00000421017.2,ENST00000559818.1,ENST00000560367.2,ENST00000558503.1,ENST00000559559.1,ENST00000560389.1,ENST00000560165.1,ENST00000557906.1,ENST00000559350.1,ENST00000558558.1,ENS
exon_skip_1277941560656674:60656722:60678226:60678285:60688349:6068862660678226:60678285ENSG00000182718.12ENST00000561445.1
exon_skip_1277951560656674:60656722:60678226:60678285:60689456:6068953760678226:60678285ENSG00000182718.12ENST00000559113.1
exon_skip_1277971560656674:60656722:60678226:60678285:60690141:6069016360678226:60678285ENSG00000182718.12ENST00000558985.1
exon_skip_1278041560656674:60656722:60689456:60689537:60690141:6069016360689456:60689537ENSG00000182718.12ENST00000558998.1
exon_skip_1278171560666817:60666881:60674540:60674640:60678226:6067828560674540:60674640ENSG00000182718.12ENST00000561022.1
exon_skip_1278331560674546:60674640:60678226:60678285:60688349:6068862660678226:60678285ENSG00000182718.12ENST00000560468.1,ENST00000558169.1
exon_skip_1278341560674546:60674640:60678226:60678285:60688478:6068862660678226:60678285ENSG00000182718.12ENST00000557906.1,ENST00000559956.1
exon_skip_1278351560674546:60674640:60678226:60678285:60689456:6068953760678226:60678285ENSG00000182718.12ENST00000421017.2,ENST00000560165.1
exon_skip_1278361560674546:60674640:60678226:60678285:60690141:6069016360678226:60678285ENSG00000182718.12ENST00000451270.2,ENST00000561022.1,ENST00000559559.1,ENST00000557937.1
exon_skip_1278491560678226:60678285:60682411:60682516:60683221:6068332660682411:60682516ENSG00000182718.12ENST00000559350.1
exon_skip_1278581560678231:60678285:60682411:60682516:60689456:6068953760682411:60682516ENSG00000182718.12ENST00000558503.1
exon_skip_1278601560678231:60678285:60682411:60682516:60690141:6069016360682411:60682516ENSG00000182718.12ENST00000559725.1
exon_skip_1278751560678231:60678285:60685236:60685639:60690141:6069016360685236:60685639ENSG00000182718.12ENST00000559780.1
exon_skip_1278851560678231:60678285:60686772:60686894:60688478:6068862660686772:60686894ENSG00000182718.12ENST00000559467.1,ENST00000559370.1
exon_skip_1278961560678231:60678285:60688349:60688626:60689456:6068953760688349:60688626ENSG00000182718.12ENST00000558169.1
exon_skip_1278991560678231:60678285:60688349:60688626:60690141:6069016360688349:60688626ENSG00000182718.12ENST00000560468.1,ENST00000561445.1
exon_skip_1279021560678231:60678285:60688478:60688626:60689456:6068953760688478:60688626ENSG00000182718.12ENST00000557906.1
exon_skip_1279051560678231:60678285:60688478:60688626:60690141:6069016360688478:60688626ENSG00000182718.12ENST00000559956.1
exon_skip_1279121560678231:60678285:60688571:60688626:60690141:6069016360688571:60688626ENSG00000182718.12ENST00000558558.1
exon_skip_1279251560678231:60678285:60689456:60689537:60690069:6069016760689456:60689537ENSG00000182718.12ENST00000560165.1
exon_skip_1279271560678231:60678285:60689456:60689537:60690141:6069016360689456:60689537ENSG00000182718.12ENST00000421017.2,ENST00000559113.1
exon_skip_1279541560682411:60682516:60689456:60689537:60690141:6069016360689456:60689537ENSG00000182718.12ENST00000558503.1
exon_skip_1279601560685437:60685639:60688349:60688626:60689456:6068953760688349:60688626ENSG00000182718.12ENST00000557986.1
exon_skip_1279701560686772:60686894:60688478:60688626:60689456:6068953760688478:60688626ENSG00000182718.12ENST00000559467.1
exon_skip_1279711560686772:60686894:60688478:60688626:60690141:6069016360688478:60688626ENSG00000182718.12ENST00000559370.1
exon_skip_1279771560688580:60688626:60689456:60689537:60690141:6069016360689456:60689537ENSG00000182718.12ENST00000557906.1,ENST00000559467.1,ENST00000558169.1,ENST00000557986.1,ENST00000560936.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for ANXA2

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000042101760678226606782853UTR-3CDS
ENST0000045127060678226606782853UTR-3CDS
ENST0000042101760689456606895373UTR-3UTR
ENST000003960246064339160643450Frame-shift
ENST000004210176064339160643450Frame-shift
ENST000004512706064339160643450Frame-shift
ENST000003960246064811760648197Frame-shift
ENST000004210176064811760648197Frame-shift
ENST000004512706064811760648197Frame-shift
ENST000003960246067454060674640Frame-shift
ENST000004210176067454060674640Frame-shift
ENST000004512706067454060674640Frame-shift
ENST000003960246064127360641396In-frame
ENST000004210176064127360641396In-frame
ENST000004512706064127360641396In-frame
ENST000003960246064392260644018In-frame
ENST000004210176064392260644018In-frame
ENST000004512706064392260644018In-frame
ENST000003960246064635260646412In-frame
ENST000004210176064635260646412In-frame
ENST000004512706064635260646412In-frame
ENST000003960246065313960653253In-frame
ENST000004210176065313960653253In-frame
ENST000004512706065313960653253In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000042101760678226606782853UTR-3CDS
ENST0000045127060678226606782853UTR-3CDS
ENST0000042101760689456606895373UTR-3UTR
ENST000003960246064339160643450Frame-shift
ENST000004210176064339160643450Frame-shift
ENST000004512706064339160643450Frame-shift
ENST000003960246064811760648197Frame-shift
ENST000004210176064811760648197Frame-shift
ENST000004512706064811760648197Frame-shift
ENST000003960246067454060674640Frame-shift
ENST000004210176067454060674640Frame-shift
ENST000004512706067454060674640Frame-shift
ENST000003960246064127360641396In-frame
ENST000004210176064127360641396In-frame
ENST000004512706064127360641396In-frame
ENST000003960246064392260644018In-frame
ENST000004210176064392260644018In-frame
ENST000004512706064392260644018In-frame
ENST000003960246064635260646412In-frame
ENST000004210176064635260646412In-frame
ENST000004512706064635260646412In-frame
ENST000003960246065313960653253In-frame
ENST000004210176065313960653253In-frame
ENST000004512706065313960653253In-frame

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Infer the effects of exon skipping event on protein functional features for ANXA2

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003960241693339606531396065325340451781119
ENST000004210171461339606531396065325338049381119
ENST000004512701452339606531396065325335646981119
ENST0000039602416933396064635260646412689748176196
ENST0000042101714613396064635260646412665724176196
ENST0000045127014523396064635260646412641700176196
ENST0000039602416933396064392260644018843938227259
ENST0000042101714613396064392260644018819914227259
ENST0000045127014523396064392260644018795890227259
ENST00000396024169333960641273606413969981120279320
ENST00000421017146133960641273606413969741096279320
ENST00000451270145233960641273606413969501072279320

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003960241693339606531396065325340451781119
ENST000004210171461339606531396065325338049381119
ENST000004512701452339606531396065325335646981119
ENST0000039602416933396064635260646412689748176196
ENST0000042101714613396064635260646412665724176196
ENST0000045127014523396064635260646412641700176196
ENST0000039602416933396064392260644018843938227259
ENST0000042101714613396064392260644018819914227259
ENST0000045127014523396064392260644018795890227259
ENST00000396024169333960641273606413969981120279320
ENST00000421017146133960641273606413969741096279320
ENST00000451270145233960641273606413969501072279320

check button Lost protein functional features of individual exon skipping events in TCGA.
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
P07355811192339ChainID=PRO_0000067470;Note=Annexin A2
P07355811192339ChainID=PRO_0000067470;Note=Annexin A2
P07355811192339ChainID=PRO_0000067470;Note=Annexin A2
P07355811198390HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355811198390HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355811198390HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P073558111993103HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P073558111993103HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P073558111993103HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P0735581119106117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P0735581119106117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P0735581119106117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355811197781MutagenesisNote=Strongly decreases interaction with PCSK9. RRTKK->AATAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18799458,ECO:0000269|PubMed:22848640;Dbxref=PMID:18799458,PMID:22848640
P07355811197781MutagenesisNote=Strongly decreases interaction with PCSK9. RRTKK->AATAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18799458,ECO:0000269|PubMed:22848640;Dbxref=PMID:18799458,PMID:22848640
P07355811197781MutagenesisNote=Strongly decreases interaction with PCSK9. RRTKK->AATAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18799458,ECO:0000269|PubMed:22848640;Dbxref=PMID:18799458,PMID:22848640
P07355811198084MutagenesisNote=No effect on interaction with PCSK9. KKELA->GKPLD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198084MutagenesisNote=No effect on interaction with PCSK9. KKELA->GKPLD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198084MutagenesisNote=No effect on interaction with PCSK9. KKELA->GKPLD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198888MutagenesisNote=Strongly decreases interaction with PCSK9%3B when associated with 77-A--A-80. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198888MutagenesisNote=Strongly decreases interaction with PCSK9%3B when associated with 77-A--A-80. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198888MutagenesisNote=Strongly decreases interaction with PCSK9%3B when associated with 77-A--A-80. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811199898Natural variantID=VAR_012982;Note=Polymorphism%3B does not affect interaction with PCSK9. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:22848640;Dbxref=dbSNP:rs17845226,PMID:15489334,PMID:22848640
P07355811199898Natural variantID=VAR_012982;Note=Polymorphism%3B does not affect interaction with PCSK9. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:22848640;Dbxref=dbSNP:rs17845226,PMID:15489334,PMID:22848640
P07355811199898Natural variantID=VAR_012982;Note=Polymorphism%3B does not affect interaction with PCSK9. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:22848640;Dbxref=dbSNP:rs17845226,PMID:15489334,PMID:22848640
P073558111942102RepeatNote=Annexin 1
P073558111942102RepeatNote=Annexin 1
P073558111942102RepeatNote=Annexin 1
P0735581119114174RepeatNote=Annexin 2
P0735581119114174RepeatNote=Annexin 2
P0735581119114174RepeatNote=Annexin 2
P073551761962339ChainID=PRO_0000067470;Note=Annexin A2
P073551761962339ChainID=PRO_0000067470;Note=Annexin A2
P073551761962339ChainID=PRO_0000067470;Note=Annexin A2
P07355176196188200HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355176196188200HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355176196188200HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355176196184184Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P07355176196184184Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P07355176196184184Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P073552272592339ChainID=PRO_0000067470;Note=Annexin A2
P073552272592339ChainID=PRO_0000067470;Note=Annexin A2
P073552272592339ChainID=PRO_0000067470;Note=Annexin A2
P07355227259222232HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259222232HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259222232HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259240247HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259240247HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259240247HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259250264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259250264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259250264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259227227Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07356
P07355227259227227Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07356
P07355227259227227Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07356
P07355227259199259RepeatNote=Annexin 3
P07355227259199259RepeatNote=Annexin 3
P07355227259199259RepeatNote=Annexin 3
P07355227259233235TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259233235TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259233235TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320279282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320279282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320279282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P073552793202339ChainID=PRO_0000067470;Note=Annexin A2
P073552793202339ChainID=PRO_0000067470;Note=Annexin A2
P073552793202339ChainID=PRO_0000067470;Note=Annexin A2
P07355279320285295HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320285295HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320285295HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320300311HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320300311HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320300311HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320315322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320315322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320315322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320274334RepeatNote=Annexin 4
P07355279320274334RepeatNote=Annexin 4
P07355279320274334RepeatNote=Annexin 4
P07355279320293293Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07355279320293293Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07355279320293293Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07355279320296298TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320296298TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320296298TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV


check button Lost protein functional features of individual exon skipping events in GTEx.
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
P07355811192339ChainID=PRO_0000067470;Note=Annexin A2
P07355811192339ChainID=PRO_0000067470;Note=Annexin A2
P07355811192339ChainID=PRO_0000067470;Note=Annexin A2
P07355811198390HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355811198390HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355811198390HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P073558111993103HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P073558111993103HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P073558111993103HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P0735581119106117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P0735581119106117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P0735581119106117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355811197781MutagenesisNote=Strongly decreases interaction with PCSK9. RRTKK->AATAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18799458,ECO:0000269|PubMed:22848640;Dbxref=PMID:18799458,PMID:22848640
P07355811197781MutagenesisNote=Strongly decreases interaction with PCSK9. RRTKK->AATAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18799458,ECO:0000269|PubMed:22848640;Dbxref=PMID:18799458,PMID:22848640
P07355811197781MutagenesisNote=Strongly decreases interaction with PCSK9. RRTKK->AATAA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18799458,ECO:0000269|PubMed:22848640;Dbxref=PMID:18799458,PMID:22848640
P07355811198084MutagenesisNote=No effect on interaction with PCSK9. KKELA->GKPLD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198084MutagenesisNote=No effect on interaction with PCSK9. KKELA->GKPLD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198084MutagenesisNote=No effect on interaction with PCSK9. KKELA->GKPLD;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198888MutagenesisNote=Strongly decreases interaction with PCSK9%3B when associated with 77-A--A-80. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198888MutagenesisNote=Strongly decreases interaction with PCSK9%3B when associated with 77-A--A-80. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811198888MutagenesisNote=Strongly decreases interaction with PCSK9%3B when associated with 77-A--A-80. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18799458;Dbxref=PMID:18799458
P07355811199898Natural variantID=VAR_012982;Note=Polymorphism%3B does not affect interaction with PCSK9. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:22848640;Dbxref=dbSNP:rs17845226,PMID:15489334,PMID:22848640
P07355811199898Natural variantID=VAR_012982;Note=Polymorphism%3B does not affect interaction with PCSK9. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:22848640;Dbxref=dbSNP:rs17845226,PMID:15489334,PMID:22848640
P07355811199898Natural variantID=VAR_012982;Note=Polymorphism%3B does not affect interaction with PCSK9. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:22848640;Dbxref=dbSNP:rs17845226,PMID:15489334,PMID:22848640
P073558111942102RepeatNote=Annexin 1
P073558111942102RepeatNote=Annexin 1
P073558111942102RepeatNote=Annexin 1
P0735581119114174RepeatNote=Annexin 2
P0735581119114174RepeatNote=Annexin 2
P0735581119114174RepeatNote=Annexin 2
P073551761962339ChainID=PRO_0000067470;Note=Annexin A2
P073551761962339ChainID=PRO_0000067470;Note=Annexin A2
P073551761962339ChainID=PRO_0000067470;Note=Annexin A2
P07355176196188200HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355176196188200HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355176196188200HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355176196184184Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P07355176196184184Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P07355176196184184Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P073552272592339ChainID=PRO_0000067470;Note=Annexin A2
P073552272592339ChainID=PRO_0000067470;Note=Annexin A2
P073552272592339ChainID=PRO_0000067470;Note=Annexin A2
P07355227259222232HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259222232HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259222232HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259240247HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259240247HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259240247HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259250264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259250264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259250264HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259227227Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07356
P07355227259227227Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07356
P07355227259227227Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07356
P07355227259199259RepeatNote=Annexin 3
P07355227259199259RepeatNote=Annexin 3
P07355227259199259RepeatNote=Annexin 3
P07355227259233235TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259233235TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355227259233235TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320279282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320279282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320279282Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P073552793202339ChainID=PRO_0000067470;Note=Annexin A2
P073552793202339ChainID=PRO_0000067470;Note=Annexin A2
P073552793202339ChainID=PRO_0000067470;Note=Annexin A2
P07355279320285295HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320285295HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320285295HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320300311HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320300311HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320300311HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320315322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320315322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320315322HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320274334RepeatNote=Annexin 4
P07355279320274334RepeatNote=Annexin 4
P07355279320274334RepeatNote=Annexin 4
P07355279320293293Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07355279320293293Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07355279320293293Sequence conflictNote=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P07355279320296298TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320296298TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV
P07355279320296298TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HYV


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SNVs in the skipped exons for ANXA2

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
ANXA2_LIHC_exon_skip_127715_psi_boxplot.png
boxplot
ANXA2_PRAD_exon_skip_127715_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_127715
60641274606413966064134360641343Frame_Shift_DelT-p.E297fs
LIHCTCGA-DD-A3A0-01exon_skip_127724
exon_skip_127721
60643392606434506064341960643419Frame_Shift_DelA-p.F270fs
LIHCTCGA-DD-A39Y-01exon_skip_127724
exon_skip_127721
60643392606434506064342760643427Frame_Shift_DelG-p.L268fs
LUADTCGA-55-8094-01exon_skip_127763
exon_skip_127764
exon_skip_127757
60653130606532536065316360653163Frame_Shift_DelA-p.S112fs
LUADTCGA-55-8094-01exon_skip_127763
exon_skip_127764
exon_skip_127757
60653140606532536065316360653163Frame_Shift_DelA-p.S112fs
LIHCTCGA-DD-A3A0-01exon_skip_127817
exon_skip_127786
60674541606746406067455460674554Frame_Shift_DelG-p.A45fs
PRADTCGA-2A-A8VT-01exon_skip_127715
60641274606413966064133060641330Nonsense_MutationTAp.K302*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ANXA2_60639865_60639888_60641273_60641396_60643391_60643450_TCGA-2A-A8VT-01Sample: TCGA-2A-A8VT-01
Cancer type: PRAD
ESID: exon_skip_127715
Skipped exon start: 60641274
Skipped exon end: 60641396
Mutation start: 60641330
Mutation end: 60641330
Mutation type: Nonsense_Mutation
Reference seq: T
Mutation seq: A
AAchange: p.K302*
exon_skip_127715_PRAD_TCGA-2A-A8VT-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE60641274606413966064133660641336Missense_MutationTCp.M300V
SF172_CENTRAL_NERVOUS_SYSTEM60641274606413966064135060641350Missense_MutationCTp.R295H
CAMA1_BREAST60641274606413966064135860641358Missense_MutationCAp.M292I
NCIH292_LUNG60643392606434506064343160643431Missense_MutationCGp.K266N
HCC1359_LUNG60643923606440186064398360643983Missense_MutationTCp.M240V
MFE319_ENDOMETRIUM60643923606440186064400160644001Missense_MutationTGp.S234R
KARPAS231_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE60653140606532536065323760653237Missense_MutationAGp.L87P
KARPAS231_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE60653130606532536065323760653237Missense_MutationAGp.L87P
CORL23_LUNG60674541606746406067455560674555Missense_MutationGAp.A45V
SNU1040_LARGE_INTESTINE60674541606746406067455660674556Missense_MutationCAp.A45S
NCIH650_LUNG60674541606746406067460760674607Missense_MutationTGp.K28Q
CHL1_SKIN60678227606782856067827060678270Missense_MutationGAp.S2F

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANXA2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANXA2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANXA2


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RelatedDrugs for ANXA2

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P07355DB00031TenecteplaseAnnexin A2biotechapproved
P07355DB00591Fluocinolone acetonideAnnexin A2small moleculeapproved|investigational|vet_approved

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RelatedDiseases for ANXA2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ANXA2C0007137Squamous cell carcinoma1CTD_human
ANXA2C0023467Leukemia, Myelocytic, Acute1CTD_human
ANXA2C0023893Liver Cirrhosis, Experimental1CTD_human
ANXA2C0023903Liver neoplasms1CTD_human
ANXA2C0024121Lung Neoplasms1CTD_human
ANXA2C0024667Animal Mammary Neoplasms1CTD_human
ANXA2C0026640Mouth Neoplasms1CTD_human
ANXA2C0027626Neoplasm Invasiveness1CTD_human
ANXA2C0029456Osteoporosis1CTD_human
ANXA2C0043094Weight Gain1CTD_human
ANXA2C0345967Malignant mesothelioma1CTD_human
ANXA2C4277682Chemical and Drug Induced Liver Injury1CTD_human