ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ADK

Gene summary

Gene information	Gene symbol	ADK
	Gene ID	132
	Gene name	adenosine kinase
	Synonyms	AK
	Cytomap	10q22.2\|10q11-q24
	Type of gene	protein-coding
	Description	adenosine kinaseadenosine 5'-phosphotransferasetesticular tissue protein Li 14
	Modification date	20200313
	UniProtAcc	A0A5F9ZGZ8, A0A5F9ZH31, A0A5F9ZH72, A0A5F9ZH76, A0A5F9ZH83, A0A5F9ZHJ1, A0A5K1VW54, A0A5K1VW94, P55263,
	Context	- 25979489(Comorbidities in Neurology: Is adenosine the common link? )

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 ADK

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.

ENSG00000156110

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

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 ADK

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_102163	chr10	74670183:74670269:74686699:74686820:74708321:74708934	74686699:74686820
exon_skip_148483	chr10	74525256:74525426:74527760:74528093:74589282:74589317	74527760:74528093
exon_skip_155764	chr10	74151240:74151343:74174416:74174618:74200764:74200838	74174416:74174618
exon_skip_199561	chr10	74151240:74151343:74200764:74200838:74224538:74224591	74200764:74200838
exon_skip_206538	chr10	74670183:74670269:74686699:74686820:74708321:74708539	74686699:74686820
exon_skip_212402	chr10	74314667:74314745:74339145:74339240:74394141:74394313	74339145:74339240
exon_skip_232515	chr10	74589282:74589317:74670183:74670269:74708321:74708549	74670183:74670269
exon_skip_246298	chr10	74176770:74176886:74200764:74200838:74314667:74314745	74200764:74200838
exon_skip_264157	chr10	74589282:74589317:74600379:74600493:74670183:74670269	74600379:74600493
exon_skip_27619	chr10	74200766:74200838:74224538:74224591:74314667:74314745	74224538:74224591
exon_skip_280509	chr10	74398471:74398579:74525256:74525426:74589282:74589317	74525256:74525426
exon_skip_290250	chr10	74224538:74224591:74242738:74243033:74314667:74314745	74242738:74243033
exon_skip_29724	chr10	74200764:74200838:74224538:74224591:74314667:74314745	74224538:74224591

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 ADK

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
ENST00000286621	74600379	74600493	Frame-shift
ENST00000286621	74224538	74224591	In-frame
ENST00000286621	74525256	74525426	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
ENST00000286621	74600379	74600493	Frame-shift
ENST00000286621	74224538	74224591	In-frame
ENST00000286621	74525256	74525426	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
ENST00000286621	74600379	74600493	Frame-shift
ENST00000286621	74200764	74200838	In-frame
ENST00000286621	74224538	74224591	In-frame
ENST00000286621	74525256	74525426	In-frame

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

p-ENSG00000156110_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
ENST00000286621	1186	362	74224538	74224591	192	244	47	64
ENST00000286621	1186	362	74525256	74525426	607	776	185	242

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
ENST00000286621	1186	362	74224538	74224591	192	244	47	64
ENST00000286621	1186	362	74525256	74525426	607	776	185	242

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
ENST00000286621	1186	362	74200764	74200838	117	190	22	46
ENST00000286621	1186	362	74224538	74224591	192	244	47	64
ENST00000286621	1186	362	74525256	74525426	607	776	185	242

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
P55263	47	64	1	65	Alternative sequence	ID=VSP_004668;Note=In isoform 4. MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKEL->MTSVRENILFGMGNPLLDISAVVDKDFLDK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P55263	47	64	52	57	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	2	362	Chain	ID=PRO_0000080053;Note=Adenosine kinase
P55263	47	64	42	47	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	60	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	63	72	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	49	49	Metal binding	Note=Magnesium 1
P55263	185	242	186	242	Alternative sequence	ID=VSP_043526;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P55263	185	242	180	185	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	209	213	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	235	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	2	362	Chain	ID=PRO_0000080053;Note=Adenosine kinase
P55263	185	242	186	190	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	193	205	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	217	222	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	224	230	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	231	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	241	250	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	235	235	Natural variant	ID=VAR_066641;Note=In HMAKD%3B the mutant shows some residual activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21963049;Dbxref=dbSNP:rs397514453,PMID:21963049
P55263	185	242	190	190	Sequence conflict	Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
P55263	185	242	219	219	Sequence conflict	Note=I->F;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
P55263	47	64	1	65	Alternative sequence	ID=VSP_004668;Note=In isoform 4. MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKEL->MTSVRENILFGMGNPLLDISAVVDKDFLDK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P55263	47	64	52	57	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	2	362	Chain	ID=PRO_0000080053;Note=Adenosine kinase
P55263	47	64	42	47	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	60	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	63	72	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	49	49	Metal binding	Note=Magnesium 1
P55263	185	242	186	242	Alternative sequence	ID=VSP_043526;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P55263	185	242	180	185	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	209	213	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	235	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	2	362	Chain	ID=PRO_0000080053;Note=Adenosine kinase
P55263	185	242	186	190	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	193	205	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	217	222	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	224	230	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	231	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	241	250	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	235	235	Natural variant	ID=VAR_066641;Note=In HMAKD%3B the mutant shows some residual activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21963049;Dbxref=dbSNP:rs397514453,PMID:21963049
P55263	185	242	190	190	Sequence conflict	Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
P55263	185	242	219	219	Sequence conflict	Note=I->F;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
P55263	22	46	1	65	Alternative sequence	ID=VSP_004668;Note=In isoform 4. MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKEL->MTSVRENILFGMGNPLLDISAVVDKDFLDK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P55263	22	46	26	29	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	22	46	33	39	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	22	46	2	362	Chain	ID=PRO_0000080053;Note=Adenosine kinase
P55263	22	46	42	47	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	22	46	30	30	Natural variant	ID=VAR_066640;Note=In HMAKD%3B the mutant shows some residual activity. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21963049;Dbxref=dbSNP:rs397514454,PMID:21963049
P55263	47	64	1	65	Alternative sequence	ID=VSP_004668;Note=In isoform 4. MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKEL->MTSVRENILFGMGNPLLDISAVVDKDFLDK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P55263	47	64	52	57	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	2	362	Chain	ID=PRO_0000080053;Note=Adenosine kinase
P55263	47	64	42	47	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	60	62	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	63	72	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	47	64	49	49	Metal binding	Note=Magnesium 1
P55263	185	242	186	242	Alternative sequence	ID=VSP_043526;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P55263	185	242	180	185	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	209	213	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	235	240	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	2	362	Chain	ID=PRO_0000080053;Note=Adenosine kinase
P55263	185	242	186	190	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	193	205	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	217	222	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	224	230	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	231	233	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	241	250	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1BX4
P55263	185	242	235	235	Natural variant	ID=VAR_066641;Note=In HMAKD%3B the mutant shows some residual activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21963049;Dbxref=dbSNP:rs397514453,PMID:21963049
P55263	185	242	190	190	Sequence conflict	Note=T->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
P55263	185	242	219	219	Sequence conflict	Note=I->F;Ontology_term=ECO:0000305;evidence=ECO:0000305

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

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 ADK

- 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 ADK

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 ADK

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 ADK

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	ILF2	exon_skip_280509	5.744295e-01	2.147564e-03
IFG	KHDRBS3	exon_skip_280509	4.186762e-01	3.327517e-02
IFG	HNRNPC	exon_skip_280509	5.026258e-01	8.872870e-03
IFG	EIF4B	exon_skip_280509	5.469226e-01	3.836505e-03
IFG	ZCRB1	exon_skip_280509	5.894333e-01	1.531308e-03
IFG	PABPN1L	exon_skip_264157	4.130266e-01	2.892722e-02

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RelatedDrugs for ADK

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 ADK

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 ADK

Gene structures and expression levels for ADK

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

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

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

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

SNVs in the skipped exons for ADK

AD stage-associated exon skippint events for ADK

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

Correlation with RNA binding proteins (RBPs) for ADK

RelatedDrugs for ADK

RelatedDiseases for ADK