ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PIN1

Gene summary

Gene information	Gene symbol	PIN1
	Gene ID	5300
	Gene name	peptidylprolyl cis/trans isomerase, NIMA-interacting 1
	Synonyms	DOD\|UBL5
	Cytomap	19p13.2
	Type of gene	protein-coding
	Description	peptidyl-prolyl cis-trans isomerase NIMA-interacting 1PPIase Pin1protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1rotamase Pin1
	Modification date	20180523
	UniProtAcc	Q13526
	Context	PubMed: PIN1 [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
PIN1	GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	19122240
PIN1	GO:0032091	negative regulation of protein binding	11533658
PIN1	GO:0042177	negative regulation of protein catabolic process	11533658
PIN1	GO:0045944	positive regulation of transcription by RNA polymerase II	11533658
PIN1	GO:0046785	microtubule polymerization	26996940
PIN1	GO:0050821	protein stabilization	11533658
PIN1	GO:0051443	positive regulation of ubiquitin-protein transferase activity	19122240
PIN1	GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	19122240
PIN1	GO:0070373	negative regulation of ERK1 and ERK2 cascade	20179103
PIN1	GO:0090263	positive regulation of canonical Wnt signaling pathway	11533658
PIN1	GO:1900180	regulation of protein localization to nucleus	11533658
PIN1	GO:2000146	negative regulation of cell motility	20179103

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Exon skipping events across known transcript of Ensembl for PIN1 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 PIN1

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 PIN1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_302008	19	9946044:9946078:9947498:9947551:9949111:9949324	9947498:9947551	ENSG00000127445.9	ENST00000589058.1,ENST00000590540.1
exon_skip_302010	19	9946044:9946078:9948687:9948751:9949111:9949324	9948687:9948751	ENSG00000127445.9	ENST00000586352.1
exon_skip_302011	19	9946044:9946078:9949111:9949324:9958705:9958816	9949111:9949324	ENSG00000127445.9	ENST00000587625.1,ENST00000247970.4,ENST00000588695.1
exon_skip_302015	19	9958705:9958816:9959765:9959871:9960208:9960357	9959765:9959871	ENSG00000127445.9	ENST00000380889.6
exon_skip_302016	19	9958705:9958816:9959765:9959877:9960208:9960357	9959765:9959877	ENSG00000127445.9	ENST00000588695.1,ENST00000590540.1
exon_skip_302017	19	9958705:9958816:9959765:9959987:9960208:9960357	9959765:9959987	ENSG00000127445.9	ENST00000591777.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PIN1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_302008	19	9946044:9946078:9947498:9947551:9949111:9949324	9947498:9947551	ENSG00000127445.9	ENST00000590540.1,ENST00000589058.1
exon_skip_302010	19	9946044:9946078:9948687:9948751:9949111:9949324	9948687:9948751	ENSG00000127445.9	ENST00000586352.1
exon_skip_302011	19	9946044:9946078:9949111:9949324:9958705:9958816	9949111:9949324	ENSG00000127445.9	ENST00000587625.1,ENST00000247970.4,ENST00000588695.1
exon_skip_302013	19	9946118:9946688:9947030:9947551:9949111:9949324	9947030:9947551	ENSG00000127445.9	ENST00000380889.6
exon_skip_302015	19	9958705:9958816:9959765:9959871:9960208:9960357	9959765:9959871	ENSG00000127445.9	ENST00000380889.6
exon_skip_302016	19	9958705:9958816:9959765:9959877:9960208:9960357	9959765:9959877	ENSG00000127445.9	ENST00000590540.1,ENST00000588695.1
exon_skip_302017	19	9958705:9958816:9959765:9959987:9960208:9960357	9959765:9959987	ENSG00000127445.9	ENST00000591777.1

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 PIN1

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
ENST00000588695	9959765	9959877	3UTR-3CDS
ENST00000247970	9949111	9949324	In-frame
ENST00000588695	9949111	9949324	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
ENST00000588695	9959765	9959877	3UTR-3CDS
ENST00000247970	9949111	9949324	In-frame
ENST00000588695	9949111	9949324	In-frame

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Infer the effects of exon skipping event on protein functional features for PIN1

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
ENST00000247970	1014	163	9949111	9949324	81	293	19	90
ENST00000588695	665	163	9949111	9949324	63	275	19	90

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
ENST00000247970	1014	163	9949111	9949324	81	293	19	90
ENST00000588695	665	163	9949111	9949324	63	275	19	90

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
Q13526	19	90	22	26	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	22	26	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	32	35	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	32	35	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	39	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1I6C
Q13526	19	90	39	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1I6C
Q13526	19	90	53	62	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	53	62	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	67	69	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	67	69	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	75	77	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	75	77	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	1	163	Chain	ID=PRO_0000193435;Note=Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1
Q13526	19	90	1	163	Chain	ID=PRO_0000193435;Note=Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1
Q13526	19	90	5	39	Domain	Note=WW;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q13526	19	90	5	39	Domain	Note=WW;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q13526	19	90	52	163	Domain	Note=PpiC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00278
Q13526	19	90	52	163	Domain	Note=PpiC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00278
Q13526	19	90	82	98	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	82	98	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	43	43	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13526	19	90	43	43	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13526	19	90	46	46	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13526	19	90	46	46	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13526	19	90	71	71	Modified residue	Note=Phosphoserine%3B by DAPK1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21497122;Dbxref=PMID:21497122
Q13526	19	90	71	71	Modified residue	Note=Phosphoserine%3B by DAPK1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21497122;Dbxref=PMID:21497122
Q13526	19	90	23	23	Mutagenesis	Note=Reduced affinity for KIF20B. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11470801;Dbxref=PMID:11470801
Q13526	19	90	23	23	Mutagenesis	Note=Reduced affinity for KIF20B. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11470801;Dbxref=PMID:11470801
Q13526	19	90	34	34	Mutagenesis	Note=Loss of binding to phosphorylated target proteins%2C including to phosphorylated RBBP8/CtIP%3B decrease in DNA repair of double-strand breaks by homologous recombination less efficient than that observed with wild-type protein. W->A;Ontology_term=ECO
Q13526	19	90	34	34	Mutagenesis	Note=Loss of binding to phosphorylated target proteins%2C including to phosphorylated RBBP8/CtIP%3B decrease in DNA repair of double-strand breaks by homologous recombination less efficient than that observed with wild-type protein. W->A;Ontology_term=ECO
Q13526	19	90	63	63	Mutagenesis	Note=Loss of peptidyl-prolyl cis/trans isomerase activity. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22608923;Dbxref=PMID:22608923
Q13526	19	90	63	63	Mutagenesis	Note=Loss of peptidyl-prolyl cis/trans isomerase activity. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22608923;Dbxref=PMID:22608923
Q13526	19	90	71	71	Mutagenesis	Note=Loss of peptidyl-prolyl cis/trans isomerase activity%2C nuclear localization and cellular function. S->D%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21497122;Dbxref=PMID:21497122
Q13526	19	90	71	71	Mutagenesis	Note=Loss of peptidyl-prolyl cis/trans isomerase activity%2C nuclear localization and cellular function. S->D%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21497122;Dbxref=PMID:21497122
Q13526	19	90	17	19	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3TC5
Q13526	19	90	17	19	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3TC5
Q13526	19	90	27	29	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	27	29	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN

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
Q13526	19	90	22	26	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	22	26	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	32	35	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	32	35	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	39	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1I6C
Q13526	19	90	39	41	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1I6C
Q13526	19	90	53	62	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	53	62	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	67	69	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	67	69	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	75	77	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	75	77	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	1	163	Chain	ID=PRO_0000193435;Note=Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1
Q13526	19	90	1	163	Chain	ID=PRO_0000193435;Note=Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1
Q13526	19	90	5	39	Domain	Note=WW;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q13526	19	90	5	39	Domain	Note=WW;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00224
Q13526	19	90	52	163	Domain	Note=PpiC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00278
Q13526	19	90	52	163	Domain	Note=PpiC;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00278
Q13526	19	90	82	98	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	82	98	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6C
Q13526	19	90	43	43	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13526	19	90	43	43	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
Q13526	19	90	46	46	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13526	19	90	46	46	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
Q13526	19	90	71	71	Modified residue	Note=Phosphoserine%3B by DAPK1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21497122;Dbxref=PMID:21497122
Q13526	19	90	71	71	Modified residue	Note=Phosphoserine%3B by DAPK1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21497122;Dbxref=PMID:21497122
Q13526	19	90	23	23	Mutagenesis	Note=Reduced affinity for KIF20B. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11470801;Dbxref=PMID:11470801
Q13526	19	90	23	23	Mutagenesis	Note=Reduced affinity for KIF20B. Y->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11470801;Dbxref=PMID:11470801
Q13526	19	90	34	34	Mutagenesis	Note=Loss of binding to phosphorylated target proteins%2C including to phosphorylated RBBP8/CtIP%3B decrease in DNA repair of double-strand breaks by homologous recombination less efficient than that observed with wild-type protein. W->A;Ontology_term=ECO
Q13526	19	90	34	34	Mutagenesis	Note=Loss of binding to phosphorylated target proteins%2C including to phosphorylated RBBP8/CtIP%3B decrease in DNA repair of double-strand breaks by homologous recombination less efficient than that observed with wild-type protein. W->A;Ontology_term=ECO
Q13526	19	90	63	63	Mutagenesis	Note=Loss of peptidyl-prolyl cis/trans isomerase activity. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22608923;Dbxref=PMID:22608923
Q13526	19	90	63	63	Mutagenesis	Note=Loss of peptidyl-prolyl cis/trans isomerase activity. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22608923;Dbxref=PMID:22608923
Q13526	19	90	71	71	Mutagenesis	Note=Loss of peptidyl-prolyl cis/trans isomerase activity%2C nuclear localization and cellular function. S->D%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21497122;Dbxref=PMID:21497122
Q13526	19	90	71	71	Mutagenesis	Note=Loss of peptidyl-prolyl cis/trans isomerase activity%2C nuclear localization and cellular function. S->D%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21497122;Dbxref=PMID:21497122
Q13526	19	90	17	19	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3TC5
Q13526	19	90	17	19	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3TC5
Q13526	19	90	27	29	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN
Q13526	19	90	27	29	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1PIN

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SNVs in the skipped exons for PIN1

- 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.

PIN1_SARC_exon_skip_302011_psi_boxplot.png
boxplot

PIN1_SKCM_exon_skip_302011_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
UCEC	TCGA-D1-A176-01	exon_skip_302011	9949112	9949324	9949200	9949200	Frame_Shift_Del	G	-	p.Q49fs
SARC	TCGA-QQ-A8VG-01	exon_skip_302011	9949112	9949324	9949267	9949267	Frame_Shift_Del	T	-	p.S72fs
SKCM	TCGA-DA-A1I0-06	exon_skip_302011	9949112	9949324	9949114	9949114	Nonsense_Mutation	C	T	p.R21*
SARC	TCGA-QQ-A8VG-01	exon_skip_302011	9949112	9949324	9949265	9949265	Nonsense_Mutation	C	A	p.S71*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-QQ-A8VG-01
	Cancer type: SARC
	ESID: exon_skip_302011
	Skipped exon start: 9949112
	Skipped exon end: 9949324
	Mutation start: 9949267
	Mutation end: 9949267
	Mutation type: Frame_Shift_Del
	Reference seq: T
	Mutation seq: -
	AAchange: p.S72fs
	Sample: TCGA-QQ-A8VG-01
	Cancer type: SARC
	ESID: exon_skip_302011
	Skipped exon start: 9949112
	Skipped exon end: 9949324
	Mutation start: 9949265
	Mutation end: 9949265
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.S71*
exon_skip_302011_SARC_TCGA-QQ-A8VG-01.png
exon_skip_33389_SARC_TCGA-QQ-A8VG-01.png
exon_skip_434992_SARC_TCGA-QQ-A8VG-01.png
	Sample: TCGA-DA-A1I0-06
	Cancer type: SKCM
	ESID: exon_skip_302011
	Skipped exon start: 9949112
	Skipped exon end: 9949324
	Mutation start: 9949114
	Mutation end: 9949114
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: T
	AAchange: p.R21*
exon_skip_302011_SKCM_TCGA-DA-A1I0-06.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
MDAPCA2B_PROSTATE	9959766	9959987	9959792	9959792	Missense_Mutation	G	A	p.A137T
MDAPCA2B_PROSTATE	9959766	9959871	9959792	9959792	Missense_Mutation	G	A	p.A137T
MDAPCA2B_PROSTATE	9959766	9959877	9959792	9959792	Missense_Mutation	G	A	p.A137T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9959766	9959987	9959792	9959792	Missense_Mutation	G	A	p.A137T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9959766	9959871	9959792	9959792	Missense_Mutation	G	A	p.A137T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9959766	9959877	9959792	9959792	Missense_Mutation	G	A	p.A137T
KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9959766	9959987	9959831	9959831	Missense_Mutation	G	A	p.V150M
KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9959766	9959871	9959831	9959831	Missense_Mutation	G	A	p.V150M
KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9959766	9959877	9959831	9959831	Missense_Mutation	G	A	p.V150M
CORL279_LUNG	9959766	9959987	9959854	9959854	Missense_Mutation	C	A	p.H157Q
CORL279_LUNG	9959766	9959871	9959854	9959854	Missense_Mutation	C	A	p.H157Q
CORL279_LUNG	9959766	9959877	9959854	9959854	Missense_Mutation	C	A	p.H157Q
SNUC4_LARGE_INTESTINE	9959766	9959987	9959868	9959868	Missense_Mutation	C	T	p.T162I
SNUC4_LARGE_INTESTINE	9959766	9959871	9959868	9959868	Missense_Mutation	C	T	p.T162I
SNUC4_LARGE_INTESTINE	9959766	9959877	9959868	9959868	Missense_Mutation	C	T	p.T162I
RMUGS_OVARY	9949112	9949324	9949113	9949113	Splice_Site	C	T	p.G20G
SISO_CERVIX	9949112	9949324	9949324	9949324	Splice_Site	G	A	p.G91S
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	9949112	9949324	9949324	9949324	Splice_Site	G	A	p.G91S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIN1

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

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIN1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIN1

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RelatedDrugs for PIN1

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 PIN1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PIN1	C1458155	Mammary Neoplasms	2	CTD_human

	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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