ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ANXA1

Gene summary

Gene information	Gene symbol	ANXA1
	Gene ID	301
	Gene name	annexin A1
	Synonyms	ANX1\|LPC1
	Cytomap	9q21.13
	Type of gene	protein-coding
	Description	annexin A1annexin I (lipocortin I)annexin-1calpactin IIcalpactin-2chromobindin-9phospholipase A2 inhibitory protein
	Modification date	20180522
	UniProtAcc	P04083
	Context	PubMed: ANXA1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
ANXA1	GO:0002548	monocyte chemotaxis	15187149
ANXA1	GO:0007187	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	25664854
ANXA1	GO:0008360	regulation of cell shape	15187149
ANXA1	GO:0018149	peptide cross-linking	10908733
ANXA1	GO:0030216	keratinocyte differentiation	10908733
ANXA1	GO:0031340	positive regulation of vesicle fusion	2138016
ANXA1	GO:0031532	actin cytoskeleton reorganization	15187149
ANXA1	GO:0032743	positive regulation of interleukin-2 production	17008549
ANXA1	GO:0035924	cellular response to vascular endothelial growth factor stimulus	22773844
ANXA1	GO:0042102	positive regulation of T cell proliferation	17008549
ANXA1	GO:0045627	positive regulation of T-helper 1 cell differentiation	17008549
ANXA1	GO:0045629	negative regulation of T-helper 2 cell differentiation	17008549
ANXA1	GO:0071385	cellular response to glucocorticoid stimulus	2936963
ANXA1	GO:0071621	granulocyte chemotaxis	15187149
ANXA1	GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	22773844
ANXA1	GO:0090303	positive regulation of wound healing	25664854

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Exon skipping events across known transcript of Ensembl for ANXA1 from UCSC genome browser

Skipped 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.

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Gene isoform structures and expression levels for ANXA1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for ANXA1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_496502	9	75766817:75766840:75769113:75769256:75773437:75773517	75769113:75769256	ENSG00000135046.9	ENST00000415424.1
exon_skip_496505	9	75766817:75766840:75769113:75769258:75773437:75773517	75769113:75769258	ENSG00000135046.9	ENST00000456643.1
exon_skip_496527	9	75766817:75766840:75773437:75773517:75773610:75773649	75773437:75773517	ENSG00000135046.9	ENST00000468639.1
exon_skip_496544	9	75777697:75777777:75778391:75778448:75780031:75780125	75778391:75778448	ENSG00000135046.9	ENST00000257497.6,ENST00000376911.1,ENST00000495713.1,ENST00000489109.1
exon_skip_496547	9	75780031:75780125:75781012:75781108:75782412:75782470	75781012:75781108	ENSG00000135046.9	ENST00000257497.6,ENST00000376911.1,ENST00000495713.1
exon_skip_496561	9	75782412:75782471:75783947:75784070:75784966:75785309	75783947:75784070	ENSG00000135046.9	ENST00000257497.6,ENST00000376911.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ANXA1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_496502	9	75766817:75766840:75769113:75769256:75773437:75773517	75769113:75769256	ENSG00000135046.9	ENST00000415424.1
exon_skip_496505	9	75766817:75766840:75769113:75769258:75773437:75773517	75769113:75769258	ENSG00000135046.9	ENST00000456643.1
exon_skip_496527	9	75766817:75766840:75773437:75773517:75773610:75773649	75773437:75773517	ENSG00000135046.9	ENST00000468639.1
exon_skip_496544	9	75777697:75777777:75778391:75778448:75780031:75780125	75778391:75778448	ENSG00000135046.9	ENST00000257497.6,ENST00000376911.1,ENST00000495713.1,ENST00000489109.1
exon_skip_496547	9	75780031:75780125:75781012:75781108:75782412:75782470	75781012:75781108	ENSG00000135046.9	ENST00000257497.6,ENST00000376911.1,ENST00000495713.1
exon_skip_496561	9	75782412:75782471:75783947:75784070:75784966:75785309	75783947:75784070	ENSG00000135046.9	ENST00000257497.6,ENST00000376911.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for ANXA1

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000257497	75778391	75778448	In-frame
ENST00000376911	75778391	75778448	In-frame
ENST00000257497	75781012	75781108	In-frame
ENST00000376911	75781012	75781108	In-frame
ENST00000257497	75783947	75784070	In-frame
ENST00000376911	75783947	75784070	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000257497	75778391	75778448	In-frame
ENST00000376911	75778391	75778448	In-frame
ENST00000257497	75781012	75781108	In-frame
ENST00000376911	75781012	75781108	In-frame
ENST00000257497	75783947	75784070	In-frame
ENST00000376911	75783947	75784070	In-frame

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Infer the effects of exon skipping event on protein functional features for ANXA1

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

Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000257497	1526	346	75778391	75778448	738	794	185	204
ENST00000376911	2226	346	75778391	75778448	1438	1494	185	204
ENST00000257497	1526	346	75781012	75781108	889	984	235	267
ENST00000376911	2226	346	75781012	75781108	1589	1684	235	267
ENST00000257497	1526	346	75783947	75784070	1044	1166	287	328
ENST00000376911	2226	346	75783947	75784070	1744	1866	287	328

Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.

ENST	Length of mRNA	Length of AA seq.	Genomic start	Genomic end	mRNA start	mRNA end	AA start	AA end
ENST00000257497	1526	346	75778391	75778448	738	794	185	204
ENST00000376911	2226	346	75778391	75778448	1438	1494	185	204
ENST00000257497	1526	346	75781012	75781108	889	984	235	267
ENST00000376911	2226	346	75781012	75781108	1589	1684	235	267
ENST00000257497	1526	346	75783947	75784070	1044	1166	287	328
ENST00000376911	2226	346	75783947	75784070	1744	1866	287	328

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 feature	Description of feature
P04083	185	204	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	185	204	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	235	267	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	235	267	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	235	267	257	257	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1);Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P10107
P04083	235	267	257	257	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1);Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P10107
P04083	235	267	253	253	Metal binding	Note=Calcium 6;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	253	253	Metal binding	Note=Calcium 6;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	255	255	Metal binding	Note=Calcium 5;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	255	255	Metal binding	Note=Calcium 5;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	256	256	Metal binding	Note=Calcium 6%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	256	256	Metal binding	Note=Calcium 6%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	261	261	Metal binding	Note=Calcium 6;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	261	261	Metal binding	Note=Calcium 6;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	239	239	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P04083	235	267	239	239	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P04083	235	267	207	267	Repeat	Note=Annexin 3
P04083	235	267	207	267	Repeat	Note=Annexin 3
P04083	287	328	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	287	328	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	287	328	324	343	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	324	343	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	288	288	Metal binding	Note=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	288	288	Metal binding	Note=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	290	290	Metal binding	Note=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	290	290	Metal binding	Note=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	328	328	Metal binding	Note=Calcium 8%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	328	328	Metal binding	Note=Calcium 8%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	312	312	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P04083	287	328	312	312	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P04083	287	328	282	342	Repeat	Note=Annexin 4
P04083	287	328	282	342	Repeat	Note=Annexin 4

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 feature	Description of feature
P04083	185	204	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	185	204	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	235	267	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	235	267	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	235	267	257	257	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1);Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P10107
P04083	235	267	257	257	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1);Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P10107
P04083	235	267	253	253	Metal binding	Note=Calcium 6;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	253	253	Metal binding	Note=Calcium 6;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	255	255	Metal binding	Note=Calcium 5;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	255	255	Metal binding	Note=Calcium 5;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	256	256	Metal binding	Note=Calcium 6%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	256	256	Metal binding	Note=Calcium 6%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	261	261	Metal binding	Note=Calcium 6;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	261	261	Metal binding	Note=Calcium 6;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	235	267	239	239	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P04083	235	267	239	239	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P04083	235	267	207	267	Repeat	Note=Annexin 3
P04083	235	267	207	267	Repeat	Note=Annexin 3
P04083	287	328	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	287	328	2	346	Chain	ID=PRO_0000067460;Note=Annexin A1
P04083	287	328	324	343	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	324	343	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	288	288	Metal binding	Note=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	288	288	Metal binding	Note=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	290	290	Metal binding	Note=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	290	290	Metal binding	Note=Calcium 7%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	328	328	Metal binding	Note=Calcium 8%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	328	328	Metal binding	Note=Calcium 8%3B via carbonyl oxygen;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P19619
P04083	287	328	312	312	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P04083	287	328	312	312	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P04083	287	328	282	342	Repeat	Note=Annexin 4
P04083	287	328	282	342	Repeat	Note=Annexin 4

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SNVs in the skipped exons for ANXA1

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

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
C75_LARGE_INTESTINE	75778392	75778448	75778397	75778397	Missense_Mutation	C	G	p.D187E
SW954_VULVA	75778392	75778448	75778434	75778434	Missense_Mutation	G	C	p.D200H
LU99_LUNG	75781013	75781108	75781054	75781054	Missense_Mutation	A	G	p.K250E
HEC251_ENDOMETRIUM	75773438	75773517	75773494	75773494	Nonsense_Mutation	G	T	p.E15*
SW954_VULVA	75778392	75778448	75778438	75778438	Nonsense_Mutation	C	G	p.S201*
NCIBL2087_MATCHED_NORMAL_TISSUE	75781013	75781108	75781013	75781013	Splice_Site	T	C	p.V236A
NCIH2087_LUNG	75781013	75781108	75781013	75781013	Splice_Site	T	C	p.V236A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANXA1

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANXA1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANXA1

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RelatedDrugs for ANXA1

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
	P04083	DB00288	Amcinonide	Annexin A1	small molecule	approved
	P04083	DB00591	Fluocinolone acetonide	Annexin A1	small molecule	approved\|investigational\|vet_approved
	P04083	DB01234	Dexamethasone	Annexin A1	small molecule	approved\|investigational\|vet_approved
	P04083	DB00741	Hydrocortisone	Annexin A1	small molecule	approved\|vet_approved
	P04083	DB14540	Hydrocortisone butyrate	Annexin A1	small molecule	approved\|vet_approved
	P04083	DB14543	Hydrocortisone probutate	Annexin A1	small molecule	approved\|vet_approved
	P04083	DB14538	Hydrocortisone aceponate	Annexin A1	small molecule	experimental\|vet_approved

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RelatedDiseases for ANXA1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ANXA1	C0024667	Animal Mammary Neoplasms	3	CTD_human
ANXA1	C0024668	Mammary Neoplasms, Experimental	2	CTD_human
ANXA1	C0007137	Squamous cell carcinoma	1	CTD_human
ANXA1	C0020538	Hypertensive disease	1	CTD_human
ANXA1	C0022658	Kidney Diseases	1	CTD_human
ANXA1	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
ANXA1	C0024232	Lymphatic Metastasis	1	CTD_human
ANXA1	C0026640	Mouth Neoplasms	1	CTD_human
ANXA1	C0027626	Neoplasm Invasiveness	1	CTD_human
ANXA1	C0027627	Neoplasm Metastasis	1	CTD_human
ANXA1	C0033578	Prostatic Neoplasms	1	CTD_human
ANXA1	C0038354	Stomach Diseases	1	CTD_human
ANXA1	C0152013	Adenocarcinoma of lung (disorder)	1	CTD_human
ANXA1	C0279626	Squamous cell carcinoma of esophagus	1	CTD_human
ANXA1	C0376634	Craniofacial Abnormalities	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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