ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for GAK

Gene summary

Gene information	Gene symbol	GAK
	Gene ID	2580
	Gene name	cyclin G associated kinase
	Synonyms	DNAJ26\|DNAJC26
	Cytomap	4p16.3
	Type of gene	protein-coding
	Description	cyclin-G-associated kinaseauxilin-2
	Modification date	20200313
	UniProtAcc	A0A087X1U9, D6RAQ7, D6RAW3, D6RC24, D6RE78, D6RF16, H0Y8H5, H0Y9M4, H0YA39, O14976, Q3B835,
	Context	- 19533292(Pro-apoptotic protein-protein interactions of the extended N-AChE terminus)

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

Gene	GO ID	GO term	PubMed ID
GAK	GO:0010977	negative regulation of neuron projection development	24510904

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Gene structures and expression levels for GAK

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.

ENSG00000178950

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	ENST00000504947.1	GAK-206:retained_intron:GAK	8.474703e+00	9.087984e-01	1.374642e-04	1.331171e-02
PG	UP	ENST00000513935.1	GAK-220:retained_intron:GAK	5.573920e+00	8.012180e-01	1.630002e-05	7.225254e-04
CB	DOWN	ENST00000504668.5	GAK-205:nonsense_mediated_decay:GAK	2.263091e+02	-1.773231e+00	3.480316e-12	4.193053e-10
CB	UP	ENST00000507580.5	GAK-209:nonsense_mediated_decay:GAK	5.579413e+00	1.229684e+00	9.315530e-08	1.998222e-06

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 GAK

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_10418	chr4	898062:898158:904637:904779:913607:913668	904637:904779
exon_skip_112382	chr4	851853:851974:859362:859493:859606:859722	859362:859493
exon_skip_121316	chr4	850936:851974:859606:859722:865122:865244	859606:859722
exon_skip_126439	chr4	865122:865244:866364:866501:866956:867025	866364:866501
exon_skip_140928	chr4	851941:851974:859606:859722:865122:865244	859606:859722
exon_skip_168808	chr4	866956:867432:868539:868685:870711:870745	868539:868685
exon_skip_172251	chr4	898062:898158:904637:904779:932043:932220	904637:904779
exon_skip_174751	chr4	904637:904779:913607:913668:932043:932220	913607:913668
exon_skip_183604	chr4	866956:867432:868539:868685:870711:870904	868539:868685
exon_skip_211033	chr4	859606:859722:865122:865244:866364:866501	865122:865244
exon_skip_22321	chr4	850936:851084:851750:851974:859362:859493	851750:851974
exon_skip_248761	chr4	904687:904779:911673:911842:912030:912174	911673:911842
exon_skip_249840	chr4	867347:867432:868539:868685:870711:870904	868539:868685
exon_skip_250328	chr4	898033:898158:913607:913668:932043:932317	913607:913668
exon_skip_254891	chr4	893943:894009:896460:896549:898033:898158	896460:896549
exon_skip_260330	chr4	898062:898158:904637:904779:911673:911781	904637:904779
exon_skip_260843	chr4	850936:851084:851750:851974:859606:859722	851750:851974
exon_skip_289772	chr4	912085:912174:912735:912794:913607:913668	912735:912794
exon_skip_31878	chr4	851853:851974:859606:859722:865122:865244	859606:859722
exon_skip_41104	chr4	893943:894009:898033:898158:932043:932317	898033:898158
exon_skip_47018	chr4	865122:865244:866364:866534:866956:867025	866364:866534
exon_skip_49655	chr4	851941:851974:859362:859493:859606:859722	859362:859493
exon_skip_56258	chr4	904687:904779:913607:913668:932043:932220	913607:913668
exon_skip_57659	chr4	851071:851084:851750:851974:859606:859722	851750:851974
exon_skip_6079	chr4	898033:898158:904637:904779:932043:932317	904637:904779
exon_skip_70475	chr4	898033:898158:904637:904779:913607:913668	904637:904779
exon_skip_78987	chr4	898033:898158:904637:904779:932043:932056	904637:904779
exon_skip_80068	chr4	898033:898158:913607:913668:932043:932056	913607:913668
exon_skip_83522	chr4	904687:904779:913607:913668:932043:932056	913607:913668
exon_skip_86095	chr4	898062:898158:913607:913668:932043:932220	913607:913668
exon_skip_93469	chr4	898062:898158:904637:904779:911673:911787	904637:904779
exon_skip_94705	chr4	877090:877207:877615:877809:881907:882040	877615:877809

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
exon_skip_254891	Mayo_CB	7.559756e-01	8.798684e-01	-1.238928e-01	3.948196e-07

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

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
ENST00000314167	904637	904779	Frame-shift
ENST00000314167	851750	851974	In-frame
ENST00000314167	859606	859722	In-frame
ENST00000314167	865122	865244	In-frame
ENST00000314167	868539	868685	In-frame
ENST00000314167	896460	896549	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
ENST00000314167	904637	904779	Frame-shift
ENST00000314167	851750	851974	In-frame
ENST00000314167	868539	868685	In-frame
ENST00000314167	896460	896549	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
ENST00000314167	904637	904779	Frame-shift
ENST00000314167	851750	851974	In-frame
ENST00000314167	859606	859722	In-frame
ENST00000314167	865122	865244	In-frame
ENST00000314167	866364	866534	In-frame
ENST00000314167	868539	868685	In-frame
ENST00000314167	877615	877809	In-frame
ENST00000314167	896460	896549	In-frame

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

p-ENSG00000178950_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
ENST00000314167	4459	1311	896460	896549	763	851	217	246
ENST00000314167	4459	1311	868539	868685	2360	2505	749	798
ENST00000314167	4459	1311	865122	865244	3155	3276	1014	1055
ENST00000314167	4459	1311	859606	859722	3278	3393	1055	1094
ENST00000314167	4459	1311	851750	851974	3395	3618	1094	1169

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
ENST00000314167	4459	1311	896460	896549	763	851	217	246
ENST00000314167	4459	1311	868539	868685	2360	2505	749	798
ENST00000314167	4459	1311	851750	851974	3395	3618	1094	1169

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
ENST00000314167	4459	1311	896460	896549	763	851	217	246
ENST00000314167	4459	1311	877615	877809	1773	1966	554	618
ENST00000314167	4459	1311	868539	868685	2360	2505	749	798
ENST00000314167	4459	1311	866364	866534	2984	3153	957	1014
ENST00000314167	4459	1311	865122	865244	3155	3276	1014	1055
ENST00000314167	4459	1311	859606	859722	3278	3393	1055	1094
ENST00000314167	4459	1311	851750	851974	3395	3618	1094	1169

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
O14976	217	246	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	217	246	40	314	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O14976	217	246	208	221	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C57
O14976	217	246	224	226	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C57
O14976	217	246	229	232	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C57
O14976	217	246	242	258	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4O38
O14976	749	798	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	749	798	770	770	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
O14976	749	798	776	776	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14976	749	798	783	783	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
O14976	749	798	794	794	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14976	749	798	787	787	Natural variant	ID=VAR_040507;Note=D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34585705,PMID:17344846
O14976	1014	1055	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	1014	1055	1051	1051	Natural variant	ID=VAR_040510;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35227944,PMID:17344846
O14976	1055	1094	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	1094	1169	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	1094	1169	1096	1096	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
O14976	1094	1169	1123	1123	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99KY4
O14976	1094	1169	1120	1120	Natural variant	ID=VAR_040511;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55801437,PMID:17344846
O14976	1094	1169	1137	1137	Natural variant	ID=VAR_040512;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56169884,PMID:17344846
O14976	1094	1169	1168	1168	Natural variant	ID=VAR_040513;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56326341,PMID:17344846
O14976	1094	1169	1113	1113	Sequence conflict	Note=P->A;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
O14976	217	246	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	217	246	40	314	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O14976	217	246	208	221	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C57
O14976	217	246	224	226	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C57
O14976	217	246	229	232	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C57
O14976	217	246	242	258	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4O38
O14976	749	798	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	749	798	770	770	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
O14976	749	798	776	776	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14976	749	798	783	783	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
O14976	749	798	794	794	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14976	749	798	787	787	Natural variant	ID=VAR_040507;Note=D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34585705,PMID:17344846
O14976	1094	1169	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	1094	1169	1096	1096	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
O14976	1094	1169	1123	1123	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99KY4
O14976	1094	1169	1120	1120	Natural variant	ID=VAR_040511;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55801437,PMID:17344846
O14976	1094	1169	1137	1137	Natural variant	ID=VAR_040512;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56169884,PMID:17344846
O14976	1094	1169	1168	1168	Natural variant	ID=VAR_040513;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56326341,PMID:17344846
O14976	1094	1169	1113	1113	Sequence conflict	Note=P->A;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
O14976	217	246	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	217	246	40	314	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O14976	217	246	208	221	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C57
O14976	217	246	224	226	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C57
O14976	217	246	229	232	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4C57
O14976	217	246	242	258	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4O38
O14976	554	618	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	554	618	399	566	Domain	Note=Phosphatase tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00590
O14976	554	618	572	710	Domain	Note=C2 tensin-type;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00589
O14976	554	618	580	580	Natural variant	ID=VAR_040506;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34255232,PMID:17344846
O14976	554	618	607	607	Sequence conflict	Note=R->C;Ontology_term=ECO:0000305;evidence=ECO:0000305
O14976	749	798	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	749	798	770	770	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
O14976	749	798	776	776	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14976	749	798	783	783	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
O14976	749	798	794	794	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O14976	749	798	787	787	Natural variant	ID=VAR_040507;Note=D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34585705,PMID:17344846
O14976	957	1014	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	957	1014	962	962	Natural variant	ID=VAR_040509;Note=In a lung neuroendocrine carcinoma sample%3B somatic mutation. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
O14976	1014	1055	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	1014	1055	1051	1051	Natural variant	ID=VAR_040510;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs35227944,PMID:17344846
O14976	1055	1094	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	1094	1169	2	1311	Chain	ID=PRO_0000085958;Note=Cyclin-G-associated kinase
O14976	1094	1169	1096	1096	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18691976;Dbxref=PMID:18691976
O14976	1094	1169	1123	1123	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q99KY4
O14976	1094	1169	1120	1120	Natural variant	ID=VAR_040511;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55801437,PMID:17344846
O14976	1094	1169	1137	1137	Natural variant	ID=VAR_040512;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56169884,PMID:17344846
O14976	1094	1169	1168	1168	Natural variant	ID=VAR_040513;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56326341,PMID:17344846
O14976	1094	1169	1113	1113	Sequence conflict	Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305

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

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 GAK

- 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 GAK

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 GAK

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 GAK

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	NUP42	exon_skip_112382	4.310045e-01	1.417188e-08
CB	RBM3	exon_skip_254891	4.042306e-01	1.384377e-07
CB	PCBP4	exon_skip_254891	5.270186e-01	1.131542e-12
CB	SNRPA	exon_skip_254891	-4.221517e-01	3.300673e-08
CB	FUBP1	exon_skip_254891	-5.777599e-01	1.898639e-15
CB	KHSRP	exon_skip_254891	-4.287228e-01	1.910068e-08
CB	NUP42	exon_skip_254891	4.226428e-01	3.169745e-08
FL	RBM3	exon_skip_254891	4.527586e-01	2.073221e-09
HCC	RBM3	exon_skip_254891	4.733445e-01	2.581448e-16
IFG	RBM6	exon_skip_112382	-4.258423e-01	2.678135e-02
IFG	CNOT4	exon_skip_112382	-4.211603e-01	2.868608e-02
IFG	RBM5	exon_skip_112382	-4.774214e-01	1.179251e-02
IFG	RBM3	exon_skip_254891	7.177530e-01	1.711470e-05
PCC	RBM3	exon_skip_254891	6.192131e-01	9.000195e-23
STG	RBM3	exon_skip_254891	4.898685e-01	9.432031e-06
TC	RBM3	exon_skip_254891	4.914829e-01	7.273708e-11

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RelatedDrugs for GAK

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
O14976	approved\|investigational	DB12010	Fostamatinib	small molecule	O14976

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RelatedDiseases for GAK

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 GAK

Gene structures and expression levels for GAK

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

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

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

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

SNVs in the skipped exons for GAK

AD stage-associated exon skippint events for GAK

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

Correlation with RNA binding proteins (RBPs) for GAK

RelatedDrugs for GAK

RelatedDiseases for GAK