ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for AKT2

Gene summary

Gene information	Gene symbol	AKT2
	Gene ID	208
	Gene name	AKT serine/threonine kinase 2
	Synonyms	HIHGHH\|PKBB\|PKBBETA\|PRKBB\|RAC-BETA
	Cytomap	19q13.2
	Type of gene	protein-coding
	Description	RAC-beta serine/threonine-protein kinasePKB betaRAC-PK-betamurine thymoma viral (v-akt) homolog-2protein kinase Akt-2protein kinase B betaputative v-akt murine thymoma viral oncoprotein 2rac protein kinase betav-akt murine thymoma viral oncogene h
	Modification date	20200313
	UniProtAcc	A0A0A0MRF1, A0A0U4CQG9, A0A1B0GXA2, A0A5F9ZHJ8, A8MX96, C9J258, C9JC83, C9JHS6, C9JIF6, C9JIJ1, E7EVP8, J3KRI8, J3KSY8, J3KT31, J3KTC6, J3KTP4, J3QKW1, J3QL45, J3QLS6, M0QZK3, M0QZW8, M0R0P9, M0R275, M0R283, P31751, Q6P4H3,
	Context

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

Gene	GO ID	GO term	PubMed ID
AKT2	GO:0030335	positive regulation of cell migration	25428377

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Gene structures and expression levels for AKT2

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.

ENSG00000105221

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	ENST00000476266.5	AKT2-216:retained_intron:AKT2	4.042247e+01	-1.383352e+00	6.178786e-04	3.448536e-03

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 AKT2

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_101260	chr19	40238942:40238973:40240045:40240110:40241938:40242011	40240045:40240110
exon_skip_133532	chr19	40242677:40242687:40244319:40244414:40255158:40255177	40244319:40244414
exon_skip_147218	chr19	40256926:40257054:40265222:40265351:40268584:40268685	40265222:40265351
exon_skip_154969	chr19	40236032:40236104:40236257:40236385:40237969:40238066	40236257:40236385
exon_skip_161483	chr19	40256926:40257054:40265222:40265351:40266206:40266317	40265222:40265351
exon_skip_179451	chr19	40238942:40238973:40240045:40240121:40241938:40242011	40240045:40240121
exon_skip_1824	chr19	40237990:40238091:40238905:40238973:40241938:40242011	40238905:40238973
exon_skip_185974	chr19	40265259:40265351:40268584:40268685:40269423:40269530	40268584:40268685
exon_skip_193016	chr19	40233879:40233951:40234449:40234571:40235045:40235147	40234449:40234571
exon_skip_268166	chr19	40233929:40233951:40234449:40234571:40235045:40235147	40234449:40234571
exon_skip_279929	chr19	40236032:40236104:40236238:40236385:40237969:40238066	40236238:40236385
exon_skip_34453	chr19	40265259:40265351:40268584:40268685:40269423:40269540	40268584:40268685
exon_skip_54034	chr19	40256926:40257054:40265222:40265351:40266011:40266348	40265222:40265351
exon_skip_66349	chr19	40256926:40257054:40265259:40265351:40285181:40285342	40265259:40265351
exon_skip_78081	chr19	40242534:40242687:40244319:40244414:40255158:40255177	40244319:40244414
exon_skip_83480	chr19	40236032:40236104:40236257:40236385:40237061:40237307	40236257:40236385

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 AKT2

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
ENST00000392038	40236257	40236385	In-frame
ENST00000392038	40240045	40240110	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
ENST00000392038	40236257	40236385	In-frame
ENST00000392038	40240045	40240110	In-frame

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
ENST00000392038	40236257	40236385	In-frame
ENST00000392038	40240045	40240110	In-frame

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Infer the effects of exon skipping event on protein functional features for AKT2

p-ENSG00000105221_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
ENST00000392038	5317	481	40240045	40240110	873	937	191	212
ENST00000392038	5317	481	40236257	40236385	1131	1258	277	319

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
ENST00000392038	5317	481	40240045	40240110	873	937	191	212
ENST00000392038	5317	481	40236257	40236385	1131	1258	277	319

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
ENST00000392038	5317	481	40240045	40240110	873	937	191	212
ENST00000392038	5317	481	40236257	40236385	1131	1258	277	319

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
P31751	191	212	200	200	Binding site	Note=Inhibitor
P31751	191	212	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	191	212	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	191	212	194	205	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	191	212	208	208	Natural variant	ID=VAR_040357;Note=R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35817154,PMID:17344846
P31751	277	319	278	320	Alternative sequence	ID=VSP_056930;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P31751	277	319	280	283	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	289	291	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	298	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UW9
P31751	277	319	310	312	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JDO
P31751	277	319	279	279	Binding site	Note=Inhibitor%3B via carbonyl oxygen
P31751	277	319	293	293	Binding site	Note=Inhibitor
P31751	277	319	294	294	Binding site	Note=Inhibitor%3B via amide nitrogen
P31751	277	319	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	277	319	297	311	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12517337;Dbxref=PMID:12517337
P31751	277	319	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	277	319	306	306	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	319	313	313	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	319	314	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	319	322	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	280	280	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	319	293	293	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	319	309	309	Modified residue	Note=Phosphothreonine%3B by PDPK1;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12434148,ECO:0000269\|PubMed:15890450,ECO:0000269\|PubMed:20059950,ECO:0000269\|PubMed:9512493;Dbxref=PMID:12434148,PMID:15890450,PMID
P31751	277	319	309	309	Mutagenesis	Note=Impairs interaction with TTC3%3B when associated with A-474. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15890450,ECO:0000269\|PubMed:20059950;Dbxref=PMID:15890450,PMID:20059950
P31751	277	319	309	309	Mutagenesis	Note=Constitutively active%3B when associated with D-474. T->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15890450,ECO:0000269\|PubMed:20059950;Dbxref=PMID:15890450,PMID:20059950
P31751	277	319	277	279	Region	Note=Inhibitor binding
P31751	277	319	292	293	Region	Note=Inhibitor binding

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
P31751	191	212	200	200	Binding site	Note=Inhibitor
P31751	191	212	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	191	212	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	191	212	194	205	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	191	212	208	208	Natural variant	ID=VAR_040357;Note=R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35817154,PMID:17344846
P31751	277	319	278	320	Alternative sequence	ID=VSP_056930;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P31751	277	319	280	283	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	289	291	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	298	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UW9
P31751	277	319	310	312	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JDO
P31751	277	319	279	279	Binding site	Note=Inhibitor%3B via carbonyl oxygen
P31751	277	319	293	293	Binding site	Note=Inhibitor
P31751	277	319	294	294	Binding site	Note=Inhibitor%3B via amide nitrogen
P31751	277	319	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	277	319	297	311	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12517337;Dbxref=PMID:12517337
P31751	277	319	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	277	319	306	306	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	319	313	313	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	319	314	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	319	322	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	280	280	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	319	293	293	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	319	309	309	Modified residue	Note=Phosphothreonine%3B by PDPK1;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12434148,ECO:0000269\|PubMed:15890450,ECO:0000269\|PubMed:20059950,ECO:0000269\|PubMed:9512493;Dbxref=PMID:12434148,PMID:15890450,PMID
P31751	277	319	309	309	Mutagenesis	Note=Impairs interaction with TTC3%3B when associated with A-474. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15890450,ECO:0000269\|PubMed:20059950;Dbxref=PMID:15890450,PMID:20059950
P31751	277	319	309	309	Mutagenesis	Note=Constitutively active%3B when associated with D-474. T->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15890450,ECO:0000269\|PubMed:20059950;Dbxref=PMID:15890450,PMID:20059950
P31751	277	319	277	279	Region	Note=Inhibitor binding
P31751	277	319	292	293	Region	Note=Inhibitor binding

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
P31751	191	212	200	200	Binding site	Note=Inhibitor
P31751	191	212	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	191	212	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	191	212	194	205	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	191	212	208	208	Natural variant	ID=VAR_040357;Note=R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35817154,PMID:17344846
P31751	277	319	278	320	Alternative sequence	ID=VSP_056930;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P31751	277	319	280	283	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	289	291	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	298	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UW9
P31751	277	319	310	312	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JDO
P31751	277	319	279	279	Binding site	Note=Inhibitor%3B via carbonyl oxygen
P31751	277	319	293	293	Binding site	Note=Inhibitor
P31751	277	319	294	294	Binding site	Note=Inhibitor%3B via amide nitrogen
P31751	277	319	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	277	319	297	311	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12517337;Dbxref=PMID:12517337
P31751	277	319	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	277	319	306	306	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	319	313	313	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	319	314	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	319	322	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	319	280	280	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	319	293	293	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	319	309	309	Modified residue	Note=Phosphothreonine%3B by PDPK1;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12434148,ECO:0000269\|PubMed:15890450,ECO:0000269\|PubMed:20059950,ECO:0000269\|PubMed:9512493;Dbxref=PMID:12434148,PMID:15890450,PMID
P31751	277	319	309	309	Mutagenesis	Note=Impairs interaction with TTC3%3B when associated with A-474. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15890450,ECO:0000269\|PubMed:20059950;Dbxref=PMID:15890450,PMID:20059950
P31751	277	319	309	309	Mutagenesis	Note=Constitutively active%3B when associated with D-474. T->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15890450,ECO:0000269\|PubMed:20059950;Dbxref=PMID:15890450,PMID:20059950
P31751	277	319	277	279	Region	Note=Inhibitor binding
P31751	277	319	292	293	Region	Note=Inhibitor binding

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3'-UTR located exon skipping events that lost miRNA binding sites in AKT2

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 AKT2

- 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 AKT2

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 AKT2

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 AKT2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	SAMD4A	exon_skip_154969	-4.148924e-01	5.406048e-08
CB	RBM4B	exon_skip_154969	-4.658337e-01	6.108941e-10
CB	RBM45	exon_skip_179451	4.048846e-01	2.760224e-07

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RelatedDrugs for AKT2

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 AKT2

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 AKT2

Gene structures and expression levels for AKT2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for AKT2

Open reading frame (ORF) annotation in the exon skipping event for AKT2

Infer the effects of exon skipping event on protein functional features for AKT2

3'-UTR located exon skipping events that lost miRNA binding sites in AKT2

SNVs in the skipped exons for AKT2

AD stage-associated exon skippint events for AKT2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKT2

Correlation with RNA binding proteins (RBPs) for AKT2

RelatedDrugs for AKT2

RelatedDiseases for AKT2