ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for PPIP5K1

Gene summary

Gene information	Gene symbol	PPIP5K1
	Gene ID	9677
	Gene name	diphosphoinositol pentakisphosphate kinase 1
	Synonyms	HISPPD2A\|IP6K\|IPS1\|VIP1\|hsVIP1
	Cytomap	15q15.3
	Type of gene	protein-coding
	Description	inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1IP6 kinaseVIP1 homologhistidine acid phosphatase domain containing 2Ahistidine acid phosphatase domain-containing protein 2Ainositol pyrophosphate synthase 1insP6 and PP-IP5 k
	Modification date	20200320
	UniProtAcc	A0A2R8YGT1, B7WPL9, C9J490, C9J5E6, C9JZX6, F8W9A8, H0Y3Y5, H7C398, H7C436, Q6PFW1,
	Context

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

Gene	GO ID	GO term	PubMed ID
PPIP5K1	GO:0006020	inositol metabolic process	17412958

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Gene structures and expression levels for PPIP5K1

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.

ENSG00000168781

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	UP	ENST00000427877.1	PPIP5K1-210:nonsense_mediated_decay:PPIP5K1	6.113867e+01	8.446663e-01	2.529802e-08	6.628668e-07

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 PPIP5K1

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_10192	chr15	43568463:43568553:43569186:43569335:43571412:43571492	43569186:43569335
exon_skip_107128	chr15	43558859:43558932:43564103:43564165:43564867:43564992	43564103:43564165
exon_skip_120126	chr15	43568463:43568553:43569186:43569335:43571412:43571576	43569186:43569335
exon_skip_127288	chr15	43578070:43578156:43579019:43579120:43581002:43581116	43579019:43579120
exon_skip_128044	chr15	43568463:43568553:43569186:43569335:43571412:43571497	43569186:43569335
exon_skip_140605	chr15	43578070:43578156:43579019:43579120:43581002:43581123	43579019:43579120
exon_skip_154997	chr15	43572769:43572876:43573034:43573160:43573357:43573484	43573034:43573160
exon_skip_195561	chr15	43572769:43572876:43573034:43573148:43573357:43573484	43573034:43573148
exon_skip_195752	chr15	43577453:43577535:43577622:43577731:43577876:43577951	43577622:43577731
exon_skip_199672	chr15	43558830:43558932:43560413:43560595:43564867:43564992	43560413:43560595
exon_skip_208306	chr15	43539483:43539583:43558795:43558932:43564867:43564992	43558795:43558932
exon_skip_219811	chr15	43533475:43535476:43539470:43539583:43558795:43558932	43539470:43539583
exon_skip_23025	chr15	43535196:43535476:43539470:43539583:43558795:43558932	43539470:43539583
exon_skip_231247	chr15	43583532:43583599:43584358:43584621:43590172:43590175	43584358:43584621
exon_skip_263836	chr15	43535414:43535476:43536135:43536254:43539470:43539583	43536135:43536254
exon_skip_275851	chr15	43584435:43584532:43584799:43584892:43590172:43590196	43584799:43584892
exon_skip_281665	chr15	43535217:43535476:43539470:43539583:43558795:43558932	43539470:43539583
exon_skip_283640	chr15	43558830:43558932:43564103:43564165:43564867:43564992	43564103:43564165
exon_skip_285567	chr15	43558859:43558932:43560413:43560595:43564867:43564992	43560413:43560595
exon_skip_291453	chr15	43584358:43584532:43584799:43584892:43590172:43590175	43584799:43584892
exon_skip_31786	chr15	43535217:43535476:43536135:43536254:43539470:43539583	43536135:43536254
exon_skip_5599	chr15	43558859:43558932:43564867:43564992:43568463:43568516	43564867:43564992
exon_skip_58432	chr15	43560440:43560595:43564867:43564992:43568463:43568516	43564867:43564992
exon_skip_60217	chr15	43558830:43558932:43564867:43564992:43568463:43568516	43564867:43564992
exon_skip_68883	chr15	43573034:43573148:43573357:43573484:43573809:43573883	43573357:43573484
exon_skip_78216	chr15	43560413:43560595:43564867:43564992:43568463:43568516	43564867:43564992
exon_skip_9321	chr15	43583532:43583599:43584358:43584532:43590172:43590175	43584358:43584532

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_283640	Mayo_TC	3.318919e-01	4.542857e-01	-1.223938e-01	1.318384e-06

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Open reading frame (ORF) annotation in the exon skipping event for PPIP5K1

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
ENST00000420765	43584799	43584892	3UTR-3UTR
ENST00000396923	43573034	43573160	Frame-shift
ENST00000420765	43573034	43573160	Frame-shift
ENST00000396923	43577622	43577731	Frame-shift
ENST00000420765	43577622	43577731	Frame-shift
ENST00000396923	43539470	43539583	In-frame
ENST00000420765	43539470	43539583	In-frame
ENST00000396923	43564103	43564165	In-frame
ENST00000420765	43564103	43564165	In-frame
ENST00000396923	43579019	43579120	In-frame
ENST00000420765	43579019	43579120	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
ENST00000420765	43584799	43584892	3UTR-3UTR
ENST00000396923	43564103	43564165	In-frame
ENST00000420765	43564103	43564165	In-frame
ENST00000396923	43579019	43579120	In-frame
ENST00000420765	43579019	43579120	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
ENST00000420765	43584799	43584892	3UTR-3UTR
ENST00000396923	43539470	43539583	In-frame
ENST00000420765	43539470	43539583	In-frame
ENST00000396923	43564103	43564165	In-frame
ENST00000420765	43564103	43564165	In-frame
ENST00000396923	43579019	43579120	In-frame
ENST00000420765	43579019	43579120	In-frame

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Infer the effects of exon skipping event on protein functional features for PPIP5K1

p-ENSG00000168781_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
ENST00000396923	5653	1433	43579019	43579120	1184	1284	354	387
ENST00000420765	5735	1433	43579019	43579120	1266	1366	354	387
ENST00000396923	5653	1433	43564103	43564165	3307	3368	1061	1082
ENST00000420765	5735	1433	43564103	43564165	3389	3450	1061	1082
ENST00000396923	5653	1433	43539470	43539583	3508	3620	1128	1166
ENST00000420765	5735	1433	43539470	43539583	3590	3702	1128	1166

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
ENST00000396923	5653	1433	43579019	43579120	1184	1284	354	387
ENST00000420765	5735	1433	43579019	43579120	1266	1366	354	387
ENST00000396923	5653	1433	43564103	43564165	3307	3368	1061	1082
ENST00000420765	5735	1433	43564103	43564165	3389	3450	1061	1082

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
ENST00000396923	5653	1433	43579019	43579120	1184	1284	354	387
ENST00000420765	5735	1433	43579019	43579120	1266	1366	354	387
ENST00000396923	5653	1433	43564103	43564165	3307	3368	1061	1082
ENST00000420765	5735	1433	43564103	43564165	3389	3450	1061	1082
ENST00000396923	5653	1433	43539470	43539583	3508	3620	1128	1166
ENST00000420765	5735	1433	43539470	43539583	3590	3702	1128	1166

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
Q6PFW1	354	387	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	354	387	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	354	387	382	453	Region	Note=Polyphosphoinositide-binding domain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21222653;Dbxref=PMID:21222653
Q6PFW1	354	387	382	453	Region	Note=Polyphosphoinositide-binding domain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21222653;Dbxref=PMID:21222653
Q6PFW1	354	387	374	374	Sequence conflict	Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	354	387	374	374	Sequence conflict	Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1061	1082	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1061	1082	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1061	1082	1020	1082	Alternative sequence	ID=VSP_030620;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9205841;Dbxref=PMID:9205841
Q6PFW1	1061	1082	1020	1082	Alternative sequence	ID=VSP_030620;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9205841;Dbxref=PMID:9205841
Q6PFW1	1061	1082	1062	1082	Alternative sequence	ID=VSP_030621;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:12825070,ECO:0000303\|PubMed:17974005;Dbxref=PMID:12825070,PMID:17974005
Q6PFW1	1061	1082	1062	1082	Alternative sequence	ID=VSP_030621;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:12825070,ECO:0000303\|PubMed:17974005;Dbxref=PMID:12825070,PMID:17974005
Q6PFW1	1061	1082	1082	1082	Alternative sequence	ID=VSP_030622;Note=In isoform 2. N->NG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1061	1082	1082	1082	Alternative sequence	ID=VSP_030622;Note=In isoform 2. N->NG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1061	1082	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1061	1082	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1061	1082	1073	1073	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q6PFW1	1061	1082	1073	1073	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q6PFW1	1061	1082	1066	1066	Sequence conflict	Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1061	1082	1066	1066	Sequence conflict	Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1128	1166	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1128	1166	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1128	1166	1107	1240	Alternative sequence	ID=VSP_030623;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1128	1166	1107	1240	Alternative sequence	ID=VSP_030623;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1128	1166	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1128	1166	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1128	1166	1145	1145	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:A2ARP1
Q6PFW1	1128	1166	1145	1145	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:A2ARP1
Q6PFW1	1128	1166	1152	1152	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18220336,PMID:23186163
Q6PFW1	1128	1166	1152	1152	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18220336,PMID:23186163
Q6PFW1	1128	1166	1134	1134	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1128	1166	1134	1134	Sequence conflict	Note=M->V;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
Q6PFW1	354	387	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	354	387	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	354	387	382	453	Region	Note=Polyphosphoinositide-binding domain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21222653;Dbxref=PMID:21222653
Q6PFW1	354	387	382	453	Region	Note=Polyphosphoinositide-binding domain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21222653;Dbxref=PMID:21222653
Q6PFW1	354	387	374	374	Sequence conflict	Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	354	387	374	374	Sequence conflict	Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1061	1082	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1061	1082	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1061	1082	1020	1082	Alternative sequence	ID=VSP_030620;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9205841;Dbxref=PMID:9205841
Q6PFW1	1061	1082	1020	1082	Alternative sequence	ID=VSP_030620;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9205841;Dbxref=PMID:9205841
Q6PFW1	1061	1082	1062	1082	Alternative sequence	ID=VSP_030621;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:12825070,ECO:0000303\|PubMed:17974005;Dbxref=PMID:12825070,PMID:17974005
Q6PFW1	1061	1082	1062	1082	Alternative sequence	ID=VSP_030621;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:12825070,ECO:0000303\|PubMed:17974005;Dbxref=PMID:12825070,PMID:17974005
Q6PFW1	1061	1082	1082	1082	Alternative sequence	ID=VSP_030622;Note=In isoform 2. N->NG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1061	1082	1082	1082	Alternative sequence	ID=VSP_030622;Note=In isoform 2. N->NG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1061	1082	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1061	1082	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1061	1082	1073	1073	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q6PFW1	1061	1082	1073	1073	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q6PFW1	1061	1082	1066	1066	Sequence conflict	Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1061	1082	1066	1066	Sequence conflict	Note=V->L;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
Q6PFW1	354	387	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	354	387	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	354	387	382	453	Region	Note=Polyphosphoinositide-binding domain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21222653;Dbxref=PMID:21222653
Q6PFW1	354	387	382	453	Region	Note=Polyphosphoinositide-binding domain;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21222653;Dbxref=PMID:21222653
Q6PFW1	354	387	374	374	Sequence conflict	Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	354	387	374	374	Sequence conflict	Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1061	1082	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1061	1082	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1061	1082	1020	1082	Alternative sequence	ID=VSP_030620;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9205841;Dbxref=PMID:9205841
Q6PFW1	1061	1082	1020	1082	Alternative sequence	ID=VSP_030620;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9205841;Dbxref=PMID:9205841
Q6PFW1	1061	1082	1062	1082	Alternative sequence	ID=VSP_030621;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:12825070,ECO:0000303\|PubMed:17974005;Dbxref=PMID:12825070,PMID:17974005
Q6PFW1	1061	1082	1062	1082	Alternative sequence	ID=VSP_030621;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:12825070,ECO:0000303\|PubMed:17974005;Dbxref=PMID:12825070,PMID:17974005
Q6PFW1	1061	1082	1082	1082	Alternative sequence	ID=VSP_030622;Note=In isoform 2. N->NG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1061	1082	1082	1082	Alternative sequence	ID=VSP_030622;Note=In isoform 2. N->NG;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1061	1082	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1061	1082	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1061	1082	1073	1073	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q6PFW1	1061	1082	1073	1073	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q6PFW1	1061	1082	1066	1066	Sequence conflict	Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1061	1082	1066	1066	Sequence conflict	Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1128	1166	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1128	1166	818	1433	Alternative sequence	ID=VSP_030617;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q6PFW1	1128	1166	1107	1240	Alternative sequence	ID=VSP_030623;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1128	1166	1107	1240	Alternative sequence	ID=VSP_030623;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:12825070;Dbxref=PMID:12825070
Q6PFW1	1128	1166	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1128	1166	1	1433	Chain	ID=PRO_0000315688;Note=Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1
Q6PFW1	1128	1166	1145	1145	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:A2ARP1
Q6PFW1	1128	1166	1145	1145	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:A2ARP1
Q6PFW1	1128	1166	1152	1152	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18220336,PMID:23186163
Q6PFW1	1128	1166	1152	1152	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18220336,PMID:23186163
Q6PFW1	1128	1166	1134	1134	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6PFW1	1128	1166	1134	1134	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305

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3'-UTR located exon skipping events that lost miRNA binding sites in PPIP5K1

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
Mayo	ENST00000420765	43584799	43584892	hsa-miR-611	chr15:43584866-43584873	8mer-1a	chr15:43584859-43584878	158.00	-27.14
Mayo	ENST00000420765	43584799	43584892	hsa-miR-6882-3p	chr15:43584844-43584851	8mer-1a	chr15:43584844-43584867	154.00	-22.97
Mayo	ENST00000420765	43584799	43584892	hsa-miR-3614-3p	chr15:43584875-43584882	8mer-1a	chr15:43584856-43584882	144.00	-20.01
Mayo	ENST00000420765	43584799	43584892	hsa-miR-3131	chr15:43584866-43584873	8mer-1a	chr15:43584859-43584878	158.00	-27.14
Mayo	ENST00000420765	43584799	43584892	hsa-miR-33a-3p	chr15:43584831-43584838	8mer-1a	chr15:43584821-43584841	151.00	-14.82
Mayo	ENST00000420765	43584799	43584892	hsa-miR-3926	chr15:43584818-43584825	8mer-1a	chr15:43584807-43584825	148.00	-19.35
Mayo	ENST00000420765	43584799	43584892	hsa-miR-4670-3p	chr15:43584837-43584844	8mer-1a	chr15:43584824-43584851	141.00	-19.18
MSBB	ENST00000420765	43584799	43584892	hsa-miR-611	chr15:43584866-43584873	8mer-1a	chr15:43584859-43584878	158.00	-27.14
MSBB	ENST00000420765	43584799	43584892	hsa-miR-6882-3p	chr15:43584844-43584851	8mer-1a	chr15:43584844-43584867	154.00	-22.97
MSBB	ENST00000420765	43584799	43584892	hsa-miR-3614-3p	chr15:43584875-43584882	8mer-1a	chr15:43584856-43584882	144.00	-20.01
MSBB	ENST00000420765	43584799	43584892	hsa-miR-3131	chr15:43584866-43584873	8mer-1a	chr15:43584859-43584878	158.00	-27.14
MSBB	ENST00000420765	43584799	43584892	hsa-miR-33a-3p	chr15:43584831-43584838	8mer-1a	chr15:43584821-43584841	151.00	-14.82
MSBB	ENST00000420765	43584799	43584892	hsa-miR-3926	chr15:43584818-43584825	8mer-1a	chr15:43584807-43584825	148.00	-19.35
MSBB	ENST00000420765	43584799	43584892	hsa-miR-4670-3p	chr15:43584837-43584844	8mer-1a	chr15:43584824-43584851	141.00	-19.18
ROSMAP	ENST00000420765	43584799	43584892	hsa-miR-611	chr15:43584866-43584873	8mer-1a	chr15:43584859-43584878	158.00	-27.14
ROSMAP	ENST00000420765	43584799	43584892	hsa-miR-6882-3p	chr15:43584844-43584851	8mer-1a	chr15:43584844-43584867	154.00	-22.97
ROSMAP	ENST00000420765	43584799	43584892	hsa-miR-3614-3p	chr15:43584875-43584882	8mer-1a	chr15:43584856-43584882	144.00	-20.01
ROSMAP	ENST00000420765	43584799	43584892	hsa-miR-3131	chr15:43584866-43584873	8mer-1a	chr15:43584859-43584878	158.00	-27.14
ROSMAP	ENST00000420765	43584799	43584892	hsa-miR-33a-3p	chr15:43584831-43584838	8mer-1a	chr15:43584821-43584841	151.00	-14.82
ROSMAP	ENST00000420765	43584799	43584892	hsa-miR-3926	chr15:43584818-43584825	8mer-1a	chr15:43584807-43584825	148.00	-19.35
ROSMAP	ENST00000420765	43584799	43584892	hsa-miR-4670-3p	chr15:43584837-43584844	8mer-1a	chr15:43584824-43584851	141.00	-19.18

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SNVs in the skipped exons for PPIP5K1

- 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 PPIP5K1

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 PPIP5K1

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 PPIP5K1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBM45	exon_skip_107128	6.392122e-01	6.019249e-19
CB	PTBP1	exon_skip_107128	-4.157964e-01	9.043705e-08
CB	RBM45	exon_skip_63190	4.229387e-01	2.138634e-07
CB	RBM6	exon_skip_291453	-4.192334e-01	2.071073e-07
HCC	RBM6	exon_skip_291453	4.114463e-01	1.648320e-11
HCC	PTBP1	exon_skip_291453	4.005052e-01	6.224965e-11
TC	G3BP2	exon_skip_199672	5.404573e-01	2.235047e-10
TC	RBM24	exon_skip_199672	4.861249e-01	2.086795e-08
TC	NUP42	exon_skip_199672	4.614731e-01	1.276676e-07
TC	HNRNPH2	exon_skip_199672	4.412503e-01	5.090020e-07
TC	RALYL	exon_skip_283640	5.980195e-01	5.798777e-14
TC	PTBP1	exon_skip_283640	-4.282344e-01	3.725055e-07

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RelatedDrugs for PPIP5K1

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 PPIP5K1

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 PPIP5K1

Gene structures and expression levels for PPIP5K1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PPIP5K1

Open reading frame (ORF) annotation in the exon skipping event for PPIP5K1

Infer the effects of exon skipping event on protein functional features for PPIP5K1

3'-UTR located exon skipping events that lost miRNA binding sites in PPIP5K1

SNVs in the skipped exons for PPIP5K1

AD stage-associated exon skippint events for PPIP5K1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPIP5K1

Correlation with RNA binding proteins (RBPs) for PPIP5K1

RelatedDrugs for PPIP5K1

RelatedDiseases for PPIP5K1