ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ANKRD11

Gene summary

Gene information	Gene symbol	ANKRD11
	Gene ID	29123
	Gene name	ankyrin repeat domain 11
	Synonyms	ANCO-1\|ANCO1\|LZ16\|T13
	Cytomap	16q24.3
	Type of gene	protein-coding
	Description	ankyrin repeat domain-containing protein 11ankyrin repeat-containing cofactor 1nasopharyngeal carcinoma susceptibility proteintruncated ankyrin repeat domain 11 aberrant transcript 1truncated ankyrin repeat domain 11 aberrant transcript 2
	Modification date	20200313
	UniProtAcc	A0A087WTN8, A0A0K2FGM8, A0A0K2FGV1, A0A2R8Y438, A0A2R8Y4T9, A0A2R8Y5V1, A0A2R8Y728, A0A2R8Y7Z1, A0A2R8YE03, A0A2R8YE94, A0A2R8YEI0, A0A345W8A6, H0Y2U4, H0Y3E3, H3BNU4, L0R6C4, Q6PEL2, Q6UB99, Q8IVY9, X5D778,
	Context

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

Gene

GO ID

GO term

PubMed ID

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Gene structures and expression levels for ANKRD11

Skipped 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.

ENSG00000167522

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
STG	UP	ENST00000623388.1	ANKRD11-219:retained_intron:ANKRD11	1.139249e+01	1.045213e+00	1.881844e-04	1.595481e-02
CB	UP	ENST00000568512.6	ANKRD11-216:lncRNA:ANKRD11	3.093786e+00	1.326333e+00	2.828823e-09	1.044375e-07
CB	DOWN	ENST00000644285.1	ANKRD11-228:protein_coding:ANKRD11	2.198515e+02	-1.424022e+00	8.024740e-07	1.244110e-05
CB	UP	ENST00000642600.1	ANKRD11-222:protein_coding:ANKRD11	1.496402e+02	1.735612e+00	4.897487e-04	2.830178e-03
CB	UP	ENST00000647539.1	ANKRD11-242:lncRNA:ANKRD11	9.558023e-01	9.242761e-01	5.613754e-03	2.165979e-02
CB	DOWN	ENST00000562275.6	ANKRD11-207:nonsense_mediated_decay:ANKRD11	4.719766e+01	-1.737789e+00	6.213003e-03	2.352749e-02
TC	UP	ENST00000568512.6	ANKRD11-216:lncRNA:ANKRD11	1.140958e+00	8.909144e-01	1.969802e-03	1.658808e-02
TC	DOWN	ENST00000642443.1	ANKRD11-221:protein_coding:ANKRD11	8.917443e+00	-1.480684e+00	3.166452e-03	2.376368e-02

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ANKRD11

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

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_126295	chr16	89291728:89291777:89305206:89305344:89316933:89316998	89305206:89305344
exon_skip_131146	chr16	89300242:89300962:89305206:89305344:89316933:89316998	89305206:89305344
exon_skip_131776	chr16	89418284:89418368:89431256:89431326:89490245:89490274	89431256:89431326
exon_skip_138222	chr16	89418284:89418368:89431256:89431326:89490245:89490320	89431256:89431326
exon_skip_173986	chr16	89274814:89274957:89275093:89275191:89279072:89285649	89275093:89275191
exon_skip_202699	chr16	89286121:89286186:89288528:89288670:89305206:89305344	89288528:89288670
exon_skip_203956	chr16	89268533:89268663:89270817:89270909:89274814:89274957	89270817:89270909
exon_skip_206907	chr16	89305263:89305344:89316933:89317078:89418284:89418305	89316933:89317078
exon_skip_212977	chr16	89300237:89300962:89305206:89305344:89316933:89316998	89305206:89305344
exon_skip_227894	chr16	89305263:89305344:89313317:89313589:89316933:89316998	89313317:89313589
exon_skip_233989	chr16	89305263:89305344:89316933:89317075:89418284:89418305	89316933:89317075
exon_skip_237452	chr16	89291127:89291183:89291681:89291799:89305206:89305239	89291681:89291799
exon_skip_26270	chr16	89291096:89291183:89291681:89291777:89305206:89305239	89291681:89291777
exon_skip_265508	chr16	89291038:89291183:89291681:89291777:89305206:89305239	89291681:89291777
exon_skip_268631	chr16	89288536:89288670:89290625:89291183:89305206:89305239	89290625:89291183
exon_skip_269368	chr16	89291096:89291183:89291681:89291799:89305206:89305239	89291681:89291799
exon_skip_291745	chr16	89291127:89291183:89291681:89291777:89305206:89305239	89291681:89291777
exon_skip_294881	chr16	89286121:89286186:89288528:89288670:89305206:89305239	89288528:89288670
exon_skip_29726	chr16	89288602:89288670:89290625:89291183:89305206:89305239	89290625:89291183
exon_skip_42955	chr16	89275093:89275191:89279072:89285649:89286039:89286186	89279072:89285649
exon_skip_53928	chr16	89291038:89291183:89305206:89305344:89418284:89418305	89305206:89305344
exon_skip_85836	chr16	89291038:89291183:89305206:89305344:89316933:89316998	89305206:89305344
exon_skip_8636	chr16	89291038:89291183:89291681:89291799:89305206:89305239	89291681:89291799

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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Open reading frame (ORF) annotation in the exon skipping event for ANKRD11

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000301030	89316933	89317078	3UTR-3CDS
ENST00000378330	89316933	89317078	3UTR-3CDS
ENST00000642600	89316933	89317075	3UTR-3CDS
ENST00000301030	89279072	89285649	Frame-shift
ENST00000378330	89279072	89285649	Frame-shift
ENST00000642600	89279072	89285649	Frame-shift
ENST00000301030	89305206	89305344	Frame-shift
ENST00000378330	89305206	89305344	Frame-shift
ENST00000642600	89305206	89305344	Frame-shift
ENST00000301030	89270817	89270909	In-frame
ENST00000378330	89270817	89270909	In-frame
ENST00000642600	89270817	89270909	In-frame

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000301030	89305206	89305344	Frame-shift
ENST00000378330	89305206	89305344	Frame-shift
ENST00000642600	89305206	89305344	Frame-shift

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

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000301030	89316933	89317078	3UTR-3CDS
ENST00000378330	89316933	89317078	3UTR-3CDS
ENST00000642600	89316933	89317075	3UTR-3CDS
ENST00000301030	89279072	89285649	Frame-shift
ENST00000378330	89279072	89285649	Frame-shift
ENST00000642600	89279072	89285649	Frame-shift
ENST00000301030	89305206	89305344	Frame-shift
ENST00000378330	89305206	89305344	Frame-shift
ENST00000642600	89305206	89305344	Frame-shift
ENST00000301030	89270817	89270909	In-frame
ENST00000378330	89270817	89270909	In-frame
ENST00000642600	89270817	89270909	In-frame
ENST00000301030	89275093	89275191	In-frame
ENST00000378330	89275093	89275191	In-frame
ENST00000642600	89275093	89275191	In-frame

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Infer the effects of exon skipping event on protein functional features for ANKRD11

p-ENSG00000167522_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000301030	9329	2663	89270817	89270909	8175	8266	2571	2601
ENST00000378330	9148	2663	89270817	89270909	8005	8096	2571	2601
ENST00000642600	8741	2663	89270817	89270909	8090	8181	2571	2601

Loci of skipped exons in MSBB 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

Loci of skipped exons in Mayo 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
ENST00000301030	9329	2663	89275093	89275191	7932	8029	2490	2522
ENST00000378330	9148	2663	89275093	89275191	7762	7859	2490	2522
ENST00000642600	8741	2663	89275093	89275191	7847	7944	2490	2522
ENST00000301030	9329	2663	89270817	89270909	8175	8266	2571	2601
ENST00000378330	9148	2663	89270817	89270909	8005	8096	2571	2601
ENST00000642600	8741	2663	89270817	89270909	8090	8181	2571	2601

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 feature	Description of feature
Q6UB99	2571	2601	1	2663	Chain	ID=PRO_0000066907;Note=Ankyrin repeat domain-containing protein 11
Q6UB99	2571	2601	1	2663	Chain	ID=PRO_0000066907;Note=Ankyrin repeat domain-containing protein 11
Q6UB99	2571	2601	1	2663	Chain	ID=PRO_0000066907;Note=Ankyrin repeat domain-containing protein 11
Q6UB99	2571	2601	2369	2663	Region	Note=Important for protein degradation;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2571	2601	2369	2663	Region	Note=Important for protein degradation;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2571	2601	2369	2663	Region	Note=Important for protein degradation;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698

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 feature

Description of feature

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 feature	Description of feature
Q6UB99	2490	2522	1	2663	Chain	ID=PRO_0000066907;Note=Ankyrin repeat domain-containing protein 11
Q6UB99	2490	2522	1	2663	Chain	ID=PRO_0000066907;Note=Ankyrin repeat domain-containing protein 11
Q6UB99	2490	2522	1	2663	Chain	ID=PRO_0000066907;Note=Ankyrin repeat domain-containing protein 11
Q6UB99	2490	2522	2512	2512	Natural variant	ID=VAR_075870;Note=In KBGS%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2490	2522	2512	2512	Natural variant	ID=VAR_075870;Note=In KBGS%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2490	2522	2512	2512	Natural variant	ID=VAR_075870;Note=In KBGS%3B unknown pathological significance. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2490	2522	2369	2663	Region	Note=Important for protein degradation;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2490	2522	2369	2663	Region	Note=Important for protein degradation;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2490	2522	2369	2663	Region	Note=Important for protein degradation;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2571	2601	1	2663	Chain	ID=PRO_0000066907;Note=Ankyrin repeat domain-containing protein 11
Q6UB99	2571	2601	1	2663	Chain	ID=PRO_0000066907;Note=Ankyrin repeat domain-containing protein 11
Q6UB99	2571	2601	1	2663	Chain	ID=PRO_0000066907;Note=Ankyrin repeat domain-containing protein 11
Q6UB99	2571	2601	2369	2663	Region	Note=Important for protein degradation;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2571	2601	2369	2663	Region	Note=Important for protein degradation;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698
Q6UB99	2571	2601	2369	2663	Region	Note=Important for protein degradation;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25413698;Dbxref=PMID:25413698

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3'-UTR located exon skipping events that lost miRNA binding sites in ANKRD11

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for ANKRD11

- Differential PSIs between mutated versus non-mutated samples.

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

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

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for ANKRD11

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD11

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for ANKRD11

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TARDBP	exon_skip_108568	4.183114e-01	4.991090e-08
CB	SAMD4A	exon_skip_108568	4.543896e-01	2.263354e-09
CB	TRA2A	exon_skip_108568	4.772959e-01	2.611729e-10
CB	TARDBP	exon_skip_165564	5.392981e-01	3.164484e-13
CB	SAMD4A	exon_skip_165564	5.008345e-01	2.389024e-11
CB	TRA2A	exon_skip_165564	5.167273e-01	4.273196e-12
CB	EWSR1	exon_skip_165564	4.085541e-01	1.084735e-07

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RelatedDrugs for ANKRD11

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for ANKRD11

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for ANKRD11

Gene structures and expression levels for ANKRD11

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ANKRD11

Open reading frame (ORF) annotation in the exon skipping event for ANKRD11

Infer the effects of exon skipping event on protein functional features for ANKRD11

3'-UTR located exon skipping events that lost miRNA binding sites in ANKRD11

SNVs in the skipped exons for ANKRD11

AD stage-associated exon skippint events for ANKRD11

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD11

Correlation with RNA binding proteins (RBPs) for ANKRD11

RelatedDrugs for ANKRD11

RelatedDiseases for ANKRD11