ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ANK1

Gene summary

Gene information	Gene symbol	ANK1
	Gene ID	286
	Gene name	ankyrin 1
	Synonyms	ANK\|SPH1\|SPH2
	Cytomap	8p11.21
	Type of gene	protein-coding
	Description	ankyrin-1ANK-1ankyrin 1, erythrocyticankyrin-Rerythrocyte ankyrin
	Modification date	20200313
	UniProtAcc	A0A2R8Y4B0, C9JN86, H0YAY8, H0YBS0, P16157, Q6PK32,
	Context

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

Gene	GO ID	GO term	PubMed ID
ANK1	GO:0006888	ER to Golgi vesicle-mediated transport	18768923

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Gene structures and expression levels for ANK1

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.

ENSG00000029534

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
CB	DOWN	ENST00000533004.5	IQANK1-203:protein_coding:IQANK1	6.436262e+00	-1.084429e+00	3.127175e-10	1.665226e-08
CB	DOWN	ENST00000382289.6	KANK1-203:protein_coding:KANK1	4.221374e+02	-1.336080e+00	3.317184e-06	4.159520e-05
CB	DOWN	ENST00000476058.5	DZANK1-208:protein_coding:DZANK1	3.854199e+01	-1.003483e+00	4.563572e-05	3.807444e-04
CB	DOWN	ENST00000429976.5	TRANK1-201:protein_coding:TRANK1	2.243431e+02	-1.530203e+00	5.745433e-04	3.241011e-03
CB	UP	ENST00000368691.5	FANK1-202:protein_coding:FANK1	1.262351e+00	9.149038e-01	1.652383e-03	7.863063e-03
TC	DOWN	ENST00000527139.6	IQANK1-201:protein_coding:IQANK1	2.322135e+00	-8.326965e-01	8.069893e-05	1.361538e-03
TC	DOWN	ENST00000382289.6	KANK1-203:protein_coding:KANK1	2.576530e+02	-1.131065e+00	1.360435e-03	1.248572e-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 ANK1

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_119011	chr8	41699452:41699548:41700431:41700454:41701550:41701618	41700431:41700454
exon_skip_119214	chr8	41688526:41688589:41690227:41690346:41690474:41690599	41690227:41690346
exon_skip_125429	chr8	41717604:41717702:41718106:41718204:41719661:41719858	41718106:41718204
exon_skip_142633	chr8	41688511:41688589:41690227:41690346:41690474:41690599	41690227:41690346
exon_skip_144889	chr8	41727908:41728006:41733971:41734069:41758036:41758137	41733971:41734069
exon_skip_145694	chr8	41668341:41668564:41672354:41672912:41684544:41684690	41672354:41672912
exon_skip_188955	chr8	41696676:41696773:41698043:41698121:41699452:41699548	41698043:41698121
exon_skip_21656	chr8	41661876:41661941:41663659:41663742:41664805:41664909	41663659:41663742
exon_skip_223413	chr8	41727250:41727348:41727908:41728006:41733971:41734069	41727908:41728006
exon_skip_228524	chr8	41668341:41668564:41672354:41672426:41684544:41684690	41672354:41672426
exon_skip_233467	chr8	41699452:41699548:41700431:41700454:41701550:41701622	41700431:41700454
exon_skip_236049	chr8	41672354:41672426:41672516:41672912:41684544:41684690	41672516:41672912
exon_skip_247250	chr8	41663659:41663742:41664805:41664909:41665533:41665830	41664805:41664909
exon_skip_263549	chr8	41653225:41655753:41661430:41661564:41661876:41661941	41661430:41661564
exon_skip_294195	chr8	41668341:41668564:41672354:41672529:41684544:41684690	41672354:41672529
exon_skip_29984	chr8	41661527:41661564:41661876:41661941:41663659:41663742	41661876:41661941
exon_skip_39500	chr8	41655705:41655753:41661430:41661564:41661876:41661941	41661430:41661564
exon_skip_83433	chr8	41704374:41704472:41706143:41706241:41708778:41708975	41706143:41706241
exon_skip_89301	chr8	41661876:41661941:41663659:41663742:41668267:41668564	41663659:41663742
exon_skip_93475	chr8	41654563:41655753:41661430:41661564:41661876:41661941	41661430:41661564

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 ANK1

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
ENST00000347528	41663659	41663742	In-frame
ENST00000347528	41690227	41690346	In-frame
ENST00000347528	41718106	41718204	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

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
ENST00000347528	41672354	41672912	Frame-shift
ENST00000347528	41698043	41698121	Frame-shift
ENST00000347528	41663659	41663742	In-frame
ENST00000347528	41690227	41690346	In-frame
ENST00000347528	41706143	41706241	In-frame
ENST00000347528	41718106	41718204	In-frame
ENST00000347528	41727908	41728006	In-frame
ENST00000347528	41733971	41734069	In-frame

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Infer the effects of exon skipping event on protein functional features for ANK1

p-ENSG00000029534_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
ENST00000347528	8254	1881	41718106	41718204	1192	1289	369	401
ENST00000347528	8254	1881	41690227	41690346	4069	4187	1328	1367
ENST00000347528	8254	1881	41663659	41663742	5479	5561	1798	1825

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
ENST00000347528	8254	1881	41733971	41734069	214	311	43	75
ENST00000347528	8254	1881	41727908	41728006	313	410	76	108
ENST00000347528	8254	1881	41718106	41718204	1192	1289	369	401
ENST00000347528	8254	1881	41706143	41706241	2083	2180	666	698
ENST00000347528	8254	1881	41690227	41690346	4069	4187	1328	1367
ENST00000347528	8254	1881	41663659	41663742	5479	5561	1798	1825

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
P16157	369	401	1	1725	Alternative sequence	ID=VSP_018440;Note=In isoform Mu17%2C isoform Mu18%2C isoform Mu19%2C isoform Mu20%2C isoform 22 and isoform 23. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9430667;Dbxref=PMID:15489334,PMID:943066
P16157	369	401	1	1881	Chain	ID=PRO_0000066883;Note=Ankyrin-1
P16157	369	401	1	827	Region	Note=89 kDa domain
P16157	369	401	370	399	Repeat	Note=ANK 11
P16157	1328	1367	1	1725	Alternative sequence	ID=VSP_018440;Note=In isoform Mu17%2C isoform Mu18%2C isoform Mu19%2C isoform Mu20%2C isoform 22 and isoform 23. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9430667;Dbxref=PMID:15489334,PMID:943066
P16157	1328	1367	1	1881	Chain	ID=PRO_0000066883;Note=Ankyrin-1
P16157	1328	1367	1234	1362	Region	Note=UPA domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P16157	1798	1825	1513	1874	Alternative sequence	ID=VSP_000264;Note=In isoform Er16. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1689849;Dbxref=PMID:1689849
P16157	1798	1825	1726	1798	Alternative sequence	ID=VSP_018443;Note=In isoform Mu17%2C isoform Mu18%2C isoform Mu19%2C isoform 22 and isoform 23. TQGPHSFQGTSTMTEGLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQ->MWTFVTQLLVTLVLLSFFLVSCQNVMHIVRGSLCFVLKHIHQELDKELGESEGLSDDEETISTRVVRRRVFLK;Ontology_
P16157	1798	1825	1726	1798	Alternative sequence	ID=VSP_018444;Note=In isoform Mu20. TQGPHSFQGTSTMTEGLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQ->MWTFVTQLLVTLVLLSFFLVSCQNVMHIVRGSLCFVLKHIHQ;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9430667;Dbxref=PMID:9430667
P16157	1798	1825	1799	1881	Alternative sequence	ID=VSP_018446;Note=In isoform Mu20. GNEFQNIPGEQVTEEQFTDEQGNIVTKKIIRKVVRQIDLSSADAAQEHEEVTVEGPLEDPSELEVDIDYFMKHSKDHTSTPNP->VELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9430667;Dbxref=PMID:9430667
P16157	1798	1825	1799	1873	Alternative sequence	ID=VSP_018445;Note=In isoform Er9%2C isoform Er10 and isoform Mu19. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9430667;Dbxref=PMID:9430667
P16157	1798	1825	1	1881	Chain	ID=PRO_0000066883;Note=Ankyrin-1
P16157	1798	1825	1824	1824	Mutagenesis	Note=Abolishes interaction with OBSCN (in isoform Mu17). T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12527750;Dbxref=PMID:12527750
P16157	1798	1825	1383	1881	Region	Note=55 kDa regulatory domain

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
P16157	43	75	1	1725	Alternative sequence	ID=VSP_018440;Note=In isoform Mu17%2C isoform Mu18%2C isoform Mu19%2C isoform Mu20%2C isoform 22 and isoform 23. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9430667;Dbxref=PMID:15489334,PMID:943066
P16157	43	75	1	1881	Chain	ID=PRO_0000066883;Note=Ankyrin-1
P16157	43	75	1	827	Region	Note=89 kDa domain
P16157	43	75	44	73	Repeat	Note=ANK 1
P16157	76	108	1	1725	Alternative sequence	ID=VSP_018440;Note=In isoform Mu17%2C isoform Mu18%2C isoform Mu19%2C isoform Mu20%2C isoform 22 and isoform 23. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9430667;Dbxref=PMID:15489334,PMID:943066
P16157	76	108	1	1881	Chain	ID=PRO_0000066883;Note=Ankyrin-1
P16157	76	108	105	105	Modified residue	Note=(3S)-3-hydroxyasparagine%3B by HIF1AN%3B partial;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21177872;Dbxref=PMID:21177872
P16157	76	108	1	827	Region	Note=89 kDa domain
P16157	76	108	77	106	Repeat	Note=ANK 2
P16157	369	401	1	1725	Alternative sequence	ID=VSP_018440;Note=In isoform Mu17%2C isoform Mu18%2C isoform Mu19%2C isoform Mu20%2C isoform 22 and isoform 23. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9430667;Dbxref=PMID:15489334,PMID:943066
P16157	369	401	1	1881	Chain	ID=PRO_0000066883;Note=Ankyrin-1
P16157	369	401	1	827	Region	Note=89 kDa domain
P16157	369	401	370	399	Repeat	Note=ANK 11
P16157	666	698	1	1725	Alternative sequence	ID=VSP_018440;Note=In isoform Mu17%2C isoform Mu18%2C isoform Mu19%2C isoform Mu20%2C isoform 22 and isoform 23. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9430667;Dbxref=PMID:15489334,PMID:943066
P16157	666	698	1	1881	Chain	ID=PRO_0000066883;Note=Ankyrin-1
P16157	666	698	671	678	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N11
P16157	666	698	681	690	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1N11
P16157	666	698	695	695	Modified residue	Note=(3S)-3-hydroxyaspartate%3B by HIF1AN%3B partial;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21177872;Dbxref=PMID:21177872
P16157	666	698	1	827	Region	Note=89 kDa domain
P16157	666	698	667	696	Repeat	Note=ANK 20
P16157	1328	1367	1	1725	Alternative sequence	ID=VSP_018440;Note=In isoform Mu17%2C isoform Mu18%2C isoform Mu19%2C isoform Mu20%2C isoform 22 and isoform 23. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9430667;Dbxref=PMID:15489334,PMID:943066
P16157	1328	1367	1	1881	Chain	ID=PRO_0000066883;Note=Ankyrin-1
P16157	1328	1367	1234	1362	Region	Note=UPA domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
P16157	1798	1825	1513	1874	Alternative sequence	ID=VSP_000264;Note=In isoform Er16. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1689849;Dbxref=PMID:1689849
P16157	1798	1825	1726	1798	Alternative sequence	ID=VSP_018443;Note=In isoform Mu17%2C isoform Mu18%2C isoform Mu19%2C isoform 22 and isoform 23. TQGPHSFQGTSTMTEGLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQ->MWTFVTQLLVTLVLLSFFLVSCQNVMHIVRGSLCFVLKHIHQELDKELGESEGLSDDEETISTRVVRRRVFLK;Ontology_
P16157	1798	1825	1726	1798	Alternative sequence	ID=VSP_018444;Note=In isoform Mu20. TQGPHSFQGTSTMTEGLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQ->MWTFVTQLLVTLVLLSFFLVSCQNVMHIVRGSLCFVLKHIHQ;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9430667;Dbxref=PMID:9430667
P16157	1798	1825	1799	1881	Alternative sequence	ID=VSP_018446;Note=In isoform Mu20. GNEFQNIPGEQVTEEQFTDEQGNIVTKKIIRKVVRQIDLSSADAAQEHEEVTVEGPLEDPSELEVDIDYFMKHSKDHTSTPNP->VELRGSGLQPDLIEGRKGAQIVKRASLKRGKQ;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9430667;Dbxref=PMID:9430667
P16157	1798	1825	1799	1873	Alternative sequence	ID=VSP_018445;Note=In isoform Er9%2C isoform Er10 and isoform Mu19. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9430667;Dbxref=PMID:9430667
P16157	1798	1825	1	1881	Chain	ID=PRO_0000066883;Note=Ankyrin-1
P16157	1798	1825	1824	1824	Mutagenesis	Note=Abolishes interaction with OBSCN (in isoform Mu17). T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12527750;Dbxref=PMID:12527750
P16157	1798	1825	1383	1881	Region	Note=55 kDa regulatory domain

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3'-UTR located exon skipping events that lost miRNA binding sites in ANK1

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 ANK1

- 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 ANK1

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 ANK1

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 ANK1

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for ANK1

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 ANK1

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 ANK1

Gene structures and expression levels for ANK1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ANK1

Open reading frame (ORF) annotation in the exon skipping event for ANK1

Infer the effects of exon skipping event on protein functional features for ANK1

3'-UTR located exon skipping events that lost miRNA binding sites in ANK1

SNVs in the skipped exons for ANK1

AD stage-associated exon skippint events for ANK1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANK1

Correlation with RNA binding proteins (RBPs) for ANK1

RelatedDrugs for ANK1

RelatedDiseases for ANK1