ExonSkipDB: 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	20180527
	UniProtAcc	P31751
	Context	PubMed: AKT2 [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
AKT2	GO:0030335	positive regulation of cell migration	25428377

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Exon skipping events across known transcript of Ensembl for AKT2 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 AKT2

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 AKT2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_318641	19	40739785:40739858:40740355:40740478:40740951:40741030	40740355:40740478	ENSG00000105221.12	ENST00000497948.1
exon_skip_318644	19	40741008:40741054:40741169:40741257:40741796:40741865	40741169:40741257	ENSG00000105221.12	ENST00000483166.1,ENST00000579047.1,ENST00000496089.2,ENST00000476247.2,ENST00000392038.2,ENST00000424901.1,ENST00000584288.1,ENST00000578615.1,ENST00000391844.4,ENST00000476266.1,ENST00000497948.1,ENST00000311278.6
exon_skip_318647	19	40741008:40741054:40741169:40741374:40741796:40741865	40741169:40741374	ENSG00000105221.12	ENST00000489375.1
exon_skip_318649	19	40741169:40741257:40741796:40742011:40742163:40742292	40741796:40742011	ENSG00000105221.12	ENST00000483166.1,ENST00000579047.1,ENST00000392038.2,ENST00000424901.1,ENST00000584288.1,ENST00000578615.1,ENST00000391844.4,ENST00000476266.1
exon_skip_318650	19	40741169:40741257:40741796:40742011:40743875:40743973	40741796:40742011	ENSG00000105221.12	ENST00000311278.6
exon_skip_318651	19	40741169:40741257:40741796:40742292:40743875:40743973	40741796:40742292	ENSG00000105221.12	ENST00000496089.2
exon_skip_318655	19	40741938:40742011:40742144:40742292:40743875:40743973	40742144:40742292	ENSG00000105221.12	ENST00000580878.1
exon_skip_318663	19	40741938:40742011:40742163:40742292:40743875:40743973	40742163:40742292	ENSG00000105221.12	ENST00000579047.1,ENST00000392038.2,ENST00000424901.1,ENST00000584288.1,ENST00000578615.1,ENST00000391844.4,ENST00000476266.1,ENST00000391845.2,ENST00000579345.1
exon_skip_318676	19	40743896:40743998:40744811:40744880:40745951:40746017	40744811:40744880	ENSG00000105221.12	ENST00000480878.2,ENST00000579047.1,ENST00000392038.2,ENST00000424901.1,ENST00000584288.1,ENST00000601166.1,ENST00000391844.4,ENST00000476266.1,ENST00000391845.2,ENST00000311278.6
exon_skip_318677	19	40743896:40743998:40744811:40744880:40747844:40747846	40744811:40744880	ENSG00000105221.12	ENST00000578615.1
exon_skip_318686	19	40744848:40744880:40745951:40746017:40747844:40747846	40745951:40746017	ENSG00000105221.12	ENST00000480878.2,ENST00000579047.1,ENST00000392038.2,ENST00000424901.1,ENST00000584288.1,ENST00000492463.2,ENST00000391844.4,ENST00000476266.1,ENST00000311278.6
exon_skip_318687	19	40744848:40744880:40745951:40746028:40747844:40747846	40745951:40746028	ENSG00000105221.12	ENST00000601166.1
exon_skip_318692	19	40748591:40748594:40750225:40750321:40761064:40761084	40750225:40750321	ENSG00000105221.12	ENST00000491778.2
exon_skip_318693	19	40762832:40762961:40771128:40771258:40771917:40772255	40771128:40771258	ENSG00000105221.12	ENST00000441941.2
exon_skip_318695	19	40762832:40762961:40771128:40771258:40772112:40772224	40771128:40771258	ENSG00000105221.12	ENST00000580747.1
exon_skip_318697	19	40762832:40762961:40771128:40771258:40774490:40774592	40771128:40771258	ENSG00000105221.12	ENST00000427375.1,ENST00000416362.1
exon_skip_318698	19	40762933:40762961:40771128:40771258:40785013:40785131	40771128:40771258	ENSG00000105221.12	ENST00000537834.1,ENST00000416994.2
exon_skip_318699	19	40762832:40762961:40771128:40771258:40786688:40786739	40771128:40771258	ENSG00000105221.12	ENST00000486368.2
exon_skip_318700	19	40762933:40762961:40771128:40771258:40791087:40791172	40771128:40771258	ENSG00000105221.12	ENST00000358335.5
exon_skip_318708	19	40762832:40762961:40771165:40771258:40791087:40791172	40771165:40771258	ENSG00000105221.12	ENST00000584288.1
exon_skip_318711	19	40771165:40771258:40774490:40774592:40775329:40775437	40774490:40774592	ENSG00000105221.12	ENST00000427375.1,ENST00000416362.1
exon_skip_318723	19	40771165:40771258:40788123:40788351:40788614:40788683	40788123:40788351	ENSG00000105221.12	ENST00000423127.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for AKT2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_318641	19	40739785:40739858:40740355:40740478:40740951:40741030	40740355:40740478	ENSG00000105221.12	ENST00000497948.1
exon_skip_318644	19	40741008:40741054:40741169:40741257:40741796:40741865	40741169:40741257	ENSG00000105221.12	ENST00000392038.2,ENST00000483166.1,ENST00000476266.1,ENST00000391844.4,ENST00000496089.2,ENST00000476247.2,ENST00000584288.1,ENST00000424901.1,ENST00000311278.6,ENST00000497948.1,ENST00000579047.1,ENST00000578615.1
exon_skip_318647	19	40741008:40741054:40741169:40741374:40741796:40741865	40741169:40741374	ENSG00000105221.12	ENST00000489375.1
exon_skip_318650	19	40741169:40741257:40741796:40742011:40743875:40743973	40741796:40742011	ENSG00000105221.12	ENST00000311278.6
exon_skip_318651	19	40741169:40741257:40741796:40742292:40743875:40743973	40741796:40742292	ENSG00000105221.12	ENST00000496089.2
exon_skip_318655	19	40741938:40742011:40742144:40742292:40743875:40743973	40742144:40742292	ENSG00000105221.12	ENST00000580878.1
exon_skip_318663	19	40741938:40742011:40742163:40742292:40743875:40743973	40742163:40742292	ENSG00000105221.12	ENST00000392038.2,ENST00000476266.1,ENST00000391844.4,ENST00000584288.1,ENST00000424901.1,ENST00000579047.1,ENST00000578615.1,ENST00000391845.2,ENST00000579345.1
exon_skip_318676	19	40743896:40743998:40744811:40744880:40745951:40746017	40744811:40744880	ENSG00000105221.12	ENST00000392038.2,ENST00000476266.1,ENST00000391844.4,ENST00000584288.1,ENST00000424901.1,ENST00000311278.6,ENST00000579047.1,ENST00000391845.2,ENST00000480878.2,ENST00000601166.1
exon_skip_318677	19	40743896:40743998:40744811:40744880:40747844:40747846	40744811:40744880	ENSG00000105221.12	ENST00000578615.1
exon_skip_318686	19	40744848:40744880:40745951:40746017:40747844:40747846	40745951:40746017	ENSG00000105221.12	ENST00000392038.2,ENST00000476266.1,ENST00000391844.4,ENST00000584288.1,ENST00000424901.1,ENST00000311278.6,ENST00000579047.1,ENST00000480878.2,ENST00000492463.2
exon_skip_318687	19	40744848:40744880:40745951:40746028:40747844:40747846	40745951:40746028	ENSG00000105221.12	ENST00000601166.1
exon_skip_318692	19	40748591:40748594:40750225:40750321:40761064:40761084	40750225:40750321	ENSG00000105221.12	ENST00000491778.2
exon_skip_318693	19	40762832:40762961:40771128:40771258:40771917:40772255	40771128:40771258	ENSG00000105221.12	ENST00000441941.2
exon_skip_318695	19	40762832:40762961:40771128:40771258:40772112:40772224	40771128:40771258	ENSG00000105221.12	ENST00000580747.1
exon_skip_318697	19	40762832:40762961:40771128:40771258:40774490:40774592	40771128:40771258	ENSG00000105221.12	ENST00000416362.1,ENST00000427375.1
exon_skip_318698	19	40762933:40762961:40771128:40771258:40785013:40785131	40771128:40771258	ENSG00000105221.12	ENST00000537834.1,ENST00000416994.2
exon_skip_318699	19	40762832:40762961:40771128:40771258:40786688:40786739	40771128:40771258	ENSG00000105221.12	ENST00000486368.2
exon_skip_318700	19	40762933:40762961:40771128:40771258:40791087:40791172	40771128:40771258	ENSG00000105221.12	ENST00000358335.5
exon_skip_318708	19	40762832:40762961:40771165:40771258:40791087:40791172	40771165:40771258	ENSG00000105221.12	ENST00000584288.1
exon_skip_318711	19	40771165:40771258:40774490:40774592:40775329:40775437	40774490:40774592	ENSG00000105221.12	ENST00000416362.1,ENST00000427375.1
exon_skip_318723	19	40771165:40771258:40788123:40788351:40788614:40788683	40788123:40788351	ENSG00000105221.12	ENST00000423127.1

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 AKT2

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
ENST00000392038	40741169	40741257	Frame-shift
ENST00000392038	40741796	40742011	Frame-shift
ENST00000392038	40742163	40742292	In-frame
ENST00000392038	40744811	40744880	In-frame
ENST00000392038	40745951	40746017	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
ENST00000392038	40741169	40741257	Frame-shift
ENST00000392038	40742163	40742292	In-frame
ENST00000392038	40744811	40744880	In-frame
ENST00000392038	40745951	40746017	In-frame

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

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
ENST00000392038	5317	481	40745951	40746017	873	938	191	213
ENST00000392038	5317	481	40744811	40744880	939	1007	213	236
ENST00000392038	5317	481	40742163	40742292	1131	1259	277	320

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
ENST00000392038	5317	481	40745951	40746017	873	938	191	213
ENST00000392038	5317	481	40744811	40744880	939	1007	213	236
ENST00000392038	5317	481	40742163	40742292	1131	1259	277	320

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
P31751	191	213	200	200	Binding site	Note=Inhibitor
P31751	191	213	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	191	213	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	191	213	194	205	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	191	213	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	213	236	215	220	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	213	236	222	230	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	213	236	232	232	Binding site	Note=Inhibitor%3B via amide nitrogen
P31751	213	236	236	236	Binding site	Note=Inhibitor
P31751	213	236	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	213	236	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	213	236	230	232	Region	Note=Inhibitor binding
P31751	277	320	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	320	280	283	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	320	289	291	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	320	298	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UW9
P31751	277	320	310	312	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JDO
P31751	277	320	279	279	Binding site	Note=Inhibitor%3B via carbonyl oxygen
P31751	277	320	293	293	Binding site	Note=Inhibitor
P31751	277	320	294	294	Binding site	Note=Inhibitor%3B via amide nitrogen
P31751	277	320	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	277	320	297	311	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12517337;Dbxref=PMID:12517337
P31751	277	320	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	277	320	306	306	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	320	313	313	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	320	314	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	320	319	322	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	320	280	280	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	320	293	293	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	320	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	320	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	320	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	320	277	279	Region	Note=Inhibitor binding
P31751	277	320	292	293	Region	Note=Inhibitor binding

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
P31751	191	213	200	200	Binding site	Note=Inhibitor
P31751	191	213	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	191	213	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	191	213	194	205	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	191	213	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	213	236	215	220	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	213	236	222	230	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	213	236	232	232	Binding site	Note=Inhibitor%3B via amide nitrogen
P31751	213	236	236	236	Binding site	Note=Inhibitor
P31751	213	236	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	213	236	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	213	236	230	232	Region	Note=Inhibitor binding
P31751	277	320	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	320	280	283	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	320	289	291	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	320	298	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UW9
P31751	277	320	310	312	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JDO
P31751	277	320	279	279	Binding site	Note=Inhibitor%3B via carbonyl oxygen
P31751	277	320	293	293	Binding site	Note=Inhibitor
P31751	277	320	294	294	Binding site	Note=Inhibitor%3B via amide nitrogen
P31751	277	320	1	481	Chain	ID=PRO_0000085608;Note=RAC-beta serine/threonine-protein kinase
P31751	277	320	297	311	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12517337;Dbxref=PMID:12517337
P31751	277	320	152	409	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P31751	277	320	306	306	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	320	313	313	Glycosylation	Note=O-linked (GlcNAc) threonine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P31751	277	320	314	316	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	320	319	322	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1O6L
P31751	277	320	280	280	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	320	293	293	Metal binding	Note=Manganese;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12434148;Dbxref=PMID:12434148
P31751	277	320	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	320	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	320	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	320	277	279	Region	Note=Inhibitor binding
P31751	277	320	292	293	Region	Note=Inhibitor binding

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SNVs in the skipped exons for AKT2

- 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.

AKT2_BRCA_exon_skip_318651_psi_boxplot.png
boxplot

AKT2_SKCM_exon_skip_318651_psi_boxplot.png
boxplot

- 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
SKCM	TCGA-EE-A29D-06	exon_skip_318649 exon_skip_318650	40741797	40742011	40741920	40741920	Frame_Shift_Del	T	-	p.Y351fs
SKCM	TCGA-EE-A29D-06	exon_skip_318649 exon_skip_318650	40741797	40742011	40741920	40741920	Frame_Shift_Del	T	-	p.Y351X
SKCM	TCGA-EE-A29D-06	exon_skip_318651	40741797	40742292	40741920	40741920	Frame_Shift_Del	T	-	p.Y351fs
SKCM	TCGA-EE-A29D-06	exon_skip_318651	40741797	40742292	40741920	40741920	Frame_Shift_Del	T	-	p.Y351X
LIHC	TCGA-DD-A3A0-01	exon_skip_318649 exon_skip_318650	40741797	40742011	40741984	40741984	Frame_Shift_Del	C	-	p.A330fs
LIHC	TCGA-DD-A3A0-01	exon_skip_318651	40741797	40742292	40741984	40741984	Frame_Shift_Del	C	-	p.A330fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_318676 exon_skip_318677	40744812	40744880	40744816	40744816	Frame_Shift_Del	C	-	p.G235fs
HNSC	TCGA-CN-4740-01	exon_skip_318644	40741170	40741257	40741253	40741254	Frame_Shift_Ins	-	A	p.W394fs
HNSC	TCGA-CN-4740-01	exon_skip_318647	40741170	40741374	40741253	40741254	Frame_Shift_Ins	-	A	p.W394fs
BRCA	TCGA-E9-A1R2-01	exon_skip_318649 exon_skip_318650	40741797	40742011	40741973	40741973	Nonsense_Mutation	C	T	p.W333*
BRCA	TCGA-E9-A1R2-01	exon_skip_318651	40741797	40742292	40741973	40741973	Nonsense_Mutation	C	T	p.W333*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-E9-A1R2-01
	Cancer type: BRCA
	ESID: exon_skip_318650
	Skipped exon start: 40741797
	Skipped exon end: 40742011
	Mutation start: 40741973
	Mutation end: 40741973
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W333*
	Sample: TCGA-E9-A1R2-01
	Cancer type: BRCA
	ESID: exon_skip_318651
	Skipped exon start: 40741797
	Skipped exon end: 40742292
	Mutation start: 40741973
	Mutation end: 40741973
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W333*
exon_skip_318650_BRCA_TCGA-E9-A1R2-01.png
exon_skip_318651_BRCA_TCGA-E9-A1R2-01.png
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318650
	Skipped exon start: 40741797
	Skipped exon end: 40742011
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351X
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318651
	Skipped exon start: 40741797
	Skipped exon end: 40742292
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351X
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318650
	Skipped exon start: 40741797
	Skipped exon end: 40742011
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351fs
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318651
	Skipped exon start: 40741797
	Skipped exon end: 40742292
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351fs
exon_skip_300457_SKCM_TCGA-EE-A29D-06.png
exon_skip_318649_SKCM_TCGA-EE-A29D-06.png
exon_skip_318650_SKCM_TCGA-EE-A29D-06.png
exon_skip_318651_SKCM_TCGA-EE-A29D-06.png
exon_skip_423582_SKCM_TCGA-EE-A29D-06.png
exon_skip_429570_SKCM_TCGA-EE-A29D-06.png
exon_skip_81936_SKCM_TCGA-EE-A29D-06.png
	Sample: TCGA-E9-A1R2-01
	Cancer type: BRCA
	ESID: exon_skip_318650
	Skipped exon start: 40741797
	Skipped exon end: 40742011
	Mutation start: 40741973
	Mutation end: 40741973
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W333*
	Sample: TCGA-E9-A1R2-01
	Cancer type: BRCA
	ESID: exon_skip_318651
	Skipped exon start: 40741797
	Skipped exon end: 40742292
	Mutation start: 40741973
	Mutation end: 40741973
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W333*
exon_skip_318650_BRCA_TCGA-E9-A1R2-01.png
exon_skip_318651_BRCA_TCGA-E9-A1R2-01.png
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318650
	Skipped exon start: 40741797
	Skipped exon end: 40742011
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351X
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318651
	Skipped exon start: 40741797
	Skipped exon end: 40742292
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351X
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318650
	Skipped exon start: 40741797
	Skipped exon end: 40742011
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351fs
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318651
	Skipped exon start: 40741797
	Skipped exon end: 40742292
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351fs
exon_skip_300457_SKCM_TCGA-EE-A29D-06.png
exon_skip_318649_SKCM_TCGA-EE-A29D-06.png
exon_skip_318650_SKCM_TCGA-EE-A29D-06.png
exon_skip_318651_SKCM_TCGA-EE-A29D-06.png
exon_skip_423582_SKCM_TCGA-EE-A29D-06.png
exon_skip_429570_SKCM_TCGA-EE-A29D-06.png
exon_skip_81936_SKCM_TCGA-EE-A29D-06.png
	Sample: TCGA-E9-A1R2-01
	Cancer type: BRCA
	ESID: exon_skip_318650
	Skipped exon start: 40741797
	Skipped exon end: 40742011
	Mutation start: 40741973
	Mutation end: 40741973
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W333*
	Sample: TCGA-E9-A1R2-01
	Cancer type: BRCA
	ESID: exon_skip_318651
	Skipped exon start: 40741797
	Skipped exon end: 40742292
	Mutation start: 40741973
	Mutation end: 40741973
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.W333*
exon_skip_318650_BRCA_TCGA-E9-A1R2-01.png
exon_skip_318651_BRCA_TCGA-E9-A1R2-01.png
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318650
	Skipped exon start: 40741797
	Skipped exon end: 40742011
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351X
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318651
	Skipped exon start: 40741797
	Skipped exon end: 40742292
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351X
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318650
	Skipped exon start: 40741797
	Skipped exon end: 40742011
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351fs
	Sample: TCGA-EE-A29D-06
	Cancer type: SKCM
	ESID: exon_skip_318651
	Skipped exon start: 40741797
	Skipped exon end: 40742292
	Mutation start: 40741920
	Mutation end: 40741920
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.Y351fs
exon_skip_300457_SKCM_TCGA-EE-A29D-06.png
exon_skip_318649_SKCM_TCGA-EE-A29D-06.png
exon_skip_318650_SKCM_TCGA-EE-A29D-06.png
exon_skip_318651_SKCM_TCGA-EE-A29D-06.png
exon_skip_423582_SKCM_TCGA-EE-A29D-06.png
exon_skip_429570_SKCM_TCGA-EE-A29D-06.png
exon_skip_81936_SKCM_TCGA-EE-A29D-06.png
	Sample: TCGA-CN-4740-01
	Cancer type: HNSC
	ESID: exon_skip_318647
	Skipped exon start: 40741170
	Skipped exon end: 40741374
	Mutation start: 40741253
	Mutation end: 40741254
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.W394fs
	Sample: TCGA-CN-4740-01
	Cancer type: HNSC
	ESID: exon_skip_318644
	Skipped exon start: 40741170
	Skipped exon end: 40741257
	Mutation start: 40741253
	Mutation end: 40741254
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.W394fs
exon_skip_286384_HNSC_TCGA-CN-4740-01.png
exon_skip_318647_HNSC_TCGA-CN-4740-01.png

- 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
EFE184_ENDOMETRIUM	40741797	40742011	40741837	40741837	Frame_Shift_Del	A	-	p.S379fs
EFE184_ENDOMETRIUM	40741797	40742292	40741837	40741837	Frame_Shift_Del	A	-	p.S379fs
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40741170	40741374	40741229	40741229	Missense_Mutation	C	G	p.E402Q
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40741170	40741257	40741229	40741229	Missense_Mutation	C	G	p.E402Q
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40741170	40741374	40741247	40741247	Missense_Mutation	C	G	p.G396R
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40741170	40741257	40741247	40741247	Missense_Mutation	C	G	p.G396R
SNU1_STOMACH	40741797	40742011	40741857	40741857	Missense_Mutation	G	A	p.T372M
SNU1_STOMACH	40741797	40742292	40741857	40741857	Missense_Mutation	G	A	p.T372M
SNU1040_LARGE_INTESTINE	40741797	40742011	40741870	40741870	Missense_Mutation	G	A	p.R368C
SNU1040_LARGE_INTESTINE	40741797	40742292	40741870	40741870	Missense_Mutation	G	A	p.R368C
NCIH1694_LUNG	40741797	40742011	40741893	40741893	Missense_Mutation	T	G	p.E360A
NCIH1694_LUNG	40741797	40742292	40741893	40741893	Missense_Mutation	T	G	p.E360A
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40741797	40742011	40741905	40741905	Missense_Mutation	T	C	p.E356G
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	40741797	40742292	40741905	40741905	Missense_Mutation	T	C	p.E356G
WM1799_SKIN	40741797	40742011	40741906	40741906	Missense_Mutation	C	T	p.E356K
WM1799_SKIN	40741797	40742292	40741906	40741906	Missense_Mutation	C	T	p.E356K
HEC59_ENDOMETRIUM	40741797	40742011	40741936	40741936	Missense_Mutation	C	T	p.G346S
HEC59_ENDOMETRIUM	40741797	40742292	40741936	40741936	Missense_Mutation	C	T	p.G346S
NCIH2023_LUNG	40741797	40742011	40741952	40741952	Missense_Mutation	C	A	p.M340I
NCIH2023_LUNG	40741797	40742292	40741952	40741952	Missense_Mutation	C	A	p.M340I
CW2_LARGE_INTESTINE	40744812	40744880	40744826	40744826	Missense_Mutation	C	T	p.A232T
CW2_LARGE_INTESTINE	40744812	40744880	40744873	40744873	Missense_Mutation	T	G	p.K216T
C33A_CERVIX	40745952	40746028	40745998	40745998	Missense_Mutation	A	G	p.V198A
C33A_CERVIX	40745952	40746017	40745998	40745998	Missense_Mutation	A	G	p.V198A
NCIH630_LARGE_INTESTINE	40771129	40771258	40771133	40771133	Missense_Mutation	C	A	p.K14N

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

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
exon_skip_318651	19	40741169:40741257:40741796:40742292:40743875:40743973	40741796:40742292	ENST00000496089.2	KIRC	rs2304188	chr19:40742105	T/C	3.32e-03
exon_skip_318651	19	40741169:40741257:40741796:40742292:40743875:40743973	40741796:40742292	ENST00000496089.2	KIRC	rs2304188	chr19:40742105	T/C	3.34e-03
exon_skip_318651	19	40741169:40741257:40741796:40742292:40743875:40743973	40741796:40742292	ENST00000496089.2	PRAD	rs2304188	chr19:40742105	T/C	6.47e-04
exon_skip_318651	19	40741169:40741257:40741796:40742292:40743875:40743973	40741796:40742292	ENST00000496089.2	STAD	rs2304188	chr19:40742105	T/C	5.70e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKT2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKT2

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RelatedDrugs for AKT2

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

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RelatedDiseases for AKT2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
AKT2	C0005586	Bipolar Disorder	1	PSYGENET
AKT2	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human;HPO;UNIPROT
AKT2	C0271694	Familial partial lipodystrophy	1	CTD_human
AKT2	C1458155	Mammary Neoplasms	1	CTD_human
AKT2	C2931822	Nasopharyngeal carcinoma	1	CTD_human
AKT2	C3278384	HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY	1	ORPHANET;UNIPROT

	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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