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	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

Gene summary for PFKP

Gene summary

Gene information	Gene symbol	PFKP
	Gene ID	5214
	Gene name	phosphofructokinase, platelet
	Synonyms	ATP-PFK|PFK-C|PFK-P|PFKF
	Cytomap	10p15.2
	Type of gene	protein-coding
	Description	ATP-dependent 6-phosphofructokinase, platelet type6-phosphofructokinase type C6-phosphofructokinase, platelet typephosphofructo-1-kinase isozyme Cphosphofructokinase 1phosphohexokinase
	Modification date	20200313
	UniProtAcc	B1APP6, H0Y3Y3, H0Y757, Q01813, Q49A78, Q5VSR5, V9GY25, V9GYV7,
	Context

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 PFKP

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.

ENSG00000067057

Differentially expressed gene analysis across multiple brain tissues between AD and control.

***cutpoints = c(0, 0.0001, 0.001, 0.01, 1), symbols = c("****", "***", "**", "ns")

Tissue type	DEG direction	Base mean exp.	log2FC(AD/control)	P-value	Adj. p-value
CB	UP	7.695707e+03	8.657984e-01	5.811098e-18	8.250829e-15

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
DLPFC	UP	ENST00000381072.5	PFKP-201:retained_intron:PFKP	1.071727e+03	8.734558e-01	3.875914e-11	1.185509e-07
PCC	UP	ENST00000381072.5	PFKP-201:retained_intron:PFKP	2.726868e+02	1.144920e+00	1.840727e-12	2.219323e-08
PCC	UP	ENST00000415005.6	PFKP-206:protein_coding:PFKP	3.808522e+02	8.560937e-01	2.486859e-11	1.173267e-07
HCC	UP	ENST00000415005.6	PFKP-206:protein_coding:PFKP	2.089730e+02	1.548495e+00	3.541468e-26	6.877532e-22
HCC	UP	ENST00000381072.5	PFKP-201:retained_intron:PFKP	2.130798e+02	1.014531e+00	1.155194e-12	3.971832e-09
HCC	UP	ENST00000468050.1	PFKP-210:protein_coding:PFKP	5.877198e+00	9.836706e-01	8.929543e-08	3.705379e-05
PG	UP	ENST00000433193.2	PFKP-208:protein_coding:PFKP	2.626320e+00	3.228243e+00	1.293381e-03	1.754502e-02
CB	UP	ENST00000415005.6	PFKP-206:protein_coding:PFKP	7.330073e+02	1.494052e+00	3.103330e-26	5.697092e-22
CB	UP	ENST00000468050.1	PFKP-210:protein_coding:PFKP	1.892359e+01	2.214248e+00	4.018004e-24	4.539232e-20
CB	UP	ENST00000460445.1	PFKP-209:lncRNA:PFKP	1.727642e+01	1.448503e+00	1.100659e-13	2.456643e-11
CB	UP	ENST00000413079.1	PFKP-205:protein_coding:PFKP	1.456347e+01	1.667788e+00	3.361222e-13	6.005383e-11
CB	UP	ENST00000381072.5	PFKP-201:retained_intron:PFKP	2.313778e+03	8.115154e-01	3.448098e-06	4.293721e-05
TC	UP	ENST00000415005.6	PFKP-206:protein_coding:PFKP	5.502810e+02	1.777519e+00	2.165035e-31	2.127239e-27
TC	UP	ENST00000468050.1	PFKP-210:protein_coding:PFKP	1.891844e+01	2.555046e+00	5.464858e-17	7.091736e-14
TC	UP	ENST00000460445.1	PFKP-209:lncRNA:PFKP	1.428941e+01	1.048581e+00	1.080470e-06	4.272065e-05
TC	UP	ENST00000413079.1	PFKP-205:protein_coding:PFKP	4.260309e+00	1.124322e+00	7.490611e-06	2.054184e-04

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 PFKP

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_17098	chr10	3118782:3118869:3119892:3120044:3129819:3129941	3119892:3120044
exon_skip_178185	chr10	3119892:3120044:3129819:3129983:3132380:3132441	3129819:3129983
exon_skip_208055	chr10	3067672:3067707:3082388:3082461:3099275:3099352	3082388:3082461
exon_skip_249461	chr10	3118782:3118869:3125097:3125249:3129819:3129941	3125097:3125249
exon_skip_25383	chr10	3103779:3103944:3105115:3105159:3105393:3105473	3105115:3105159
exon_skip_267857	chr10	3101365:3101554:3103779:3103944:3105115:3105159	3103779:3103944
exon_skip_274195	chr10	3105115:3105159:3105393:3105501:3107214:3107233	3105393:3105501
exon_skip_32793	chr10	3104747:3104788:3105115:3105159:3105393:3105473	3105115:3105159
exon_skip_64720	chr10	3099275:3099352:3100921:3101000:3101365:3101554	3100921:3101000

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 PFKP

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
ENST00000381125	3082388	3082461	Frame-shift
ENST00000381125	3103779	3103944	Frame-shift
ENST00000381125	3105115	3105159	In-frame
ENST00000381125	3119892	3120044	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
ENST00000381125	3119892	3120044	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
ENST00000381125	3082388	3082461	Frame-shift
ENST00000381125	3103779	3103944	Frame-shift
ENST00000381125	3105393	3105501	Frame-shift
ENST00000381125	3105115	3105159	In-frame
ENST00000381125	3119892	3120044	In-frame
ENST00000381125	3129819	3129983	In-frame

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

p-ENSG00000067057_img4.png

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
ENST00000381125	2671	784	3105115	3105159	698	741	207	221
ENST00000381125	2671	784	3119892	3120044	1608	1759	510	561

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
ENST00000381125	2671	784	3119892	3120044	1608	1759	510	561

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
ENST00000381125	2671	784	3105115	3105159	698	741	207	221
ENST00000381125	2671	784	3119892	3120044	1608	1759	510	561
ENST00000381125	2671	784	3129819	3129983	1761	1924	561	616

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
Q01813	207	221	210	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	207	221	210	210	Binding site	Note=Substrate%3B shared with dimeric partner;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184
Q01813	207	221	1	784	Chain	ID=PRO_0000112024;Note=ATP-dependent 6-phosphofructokinase%2C platelet type
Q01813	207	221	187	208	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	207	221	1	399	Region	Note=N-terminal catalytic PFK domain 1
Q01813	207	221	217	219	Region	Note=Substrate binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184
Q01813	510	561	532	540	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	1	784	Chain	ID=PRO_0000112024;Note=ATP-dependent 6-phosphofructokinase%2C platelet type
Q01813	510	561	540	540	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q01813	510	561	509	520	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	526	528	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	552	568	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	412	784	Region	Note=C-terminal regulatory PFK domain 2
Q01813	510	561	538	542	Region	Note=Allosteric activator fructose 2%2C6-bisphosphate binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184
Q01813	510	561	521	524	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2

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
Q01813	510	561	532	540	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	1	784	Chain	ID=PRO_0000112024;Note=ATP-dependent 6-phosphofructokinase%2C platelet type
Q01813	510	561	540	540	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q01813	510	561	509	520	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	526	528	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	552	568	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	412	784	Region	Note=C-terminal regulatory PFK domain 2
Q01813	510	561	538	542	Region	Note=Allosteric activator fructose 2%2C6-bisphosphate binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184
Q01813	510	561	521	524	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2

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
Q01813	207	221	210	217	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	207	221	210	210	Binding site	Note=Substrate%3B shared with dimeric partner;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184
Q01813	207	221	1	784	Chain	ID=PRO_0000112024;Note=ATP-dependent 6-phosphofructokinase%2C platelet type
Q01813	207	221	187	208	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	207	221	1	399	Region	Note=N-terminal catalytic PFK domain 1
Q01813	207	221	217	219	Region	Note=Substrate binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184
Q01813	510	561	532	540	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	1	784	Chain	ID=PRO_0000112024;Note=ATP-dependent 6-phosphofructokinase%2C platelet type
Q01813	510	561	540	540	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q01813	510	561	509	520	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	526	528	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	552	568	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	510	561	412	784	Region	Note=C-terminal regulatory PFK domain 2
Q01813	510	561	538	542	Region	Note=Allosteric activator fructose 2%2C6-bisphosphate binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184
Q01813	510	561	521	524	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	561	616	570	573	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	561	616	576	582	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	561	616	601	604	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	561	616	606	608	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XYJ
Q01813	561	616	576	576	Binding site	Note=Allosteric activator fructose 2%2C6-bisphosphate%3B shared with dimeric partner;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184
Q01813	561	616	1	784	Chain	ID=PRO_0000112024;Note=ATP-dependent 6-phosphofructokinase%2C platelet type
Q01813	561	616	552	568	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	561	616	589	598	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	561	616	612	625	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4XZ2
Q01813	561	616	412	784	Region	Note=C-terminal regulatory PFK domain 2
Q01813	561	616	583	585	Region	Note=Allosteric activator fructose 2%2C6-bisphosphate binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184

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

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 PFKP

- 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 PFKP

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 PFKP

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 PFKP

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for PFKP

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 PFKP

Diseases associated with this gene. (DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

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