ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PROS1

Gene summary

Gene information	Gene symbol	PROS1
	Gene ID	5627
	Gene name	protein S
	Synonyms	PROS\|PS21\|PS22\|PS23\|PS24\|PS25\|PSA\|THPH5\|THPH6
	Cytomap	3q11.1
	Type of gene	protein-coding
	Description	vitamin K-dependent protein Sprotein S (alpha)protein Savitamin K-dependent plasma protein S
	Modification date	20180522
	UniProtAcc	P07225
	Context	PubMed: PROS1 [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

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Exon skipping events across known transcript of Ensembl for PROS1 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 PROS1

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 PROS1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_385881	3	93593087:93593249:93595809:93596035:93598006:93598158	93595809:93596035	ENSG00000184500.10	ENST00000394236.3,ENST00000407433.1
exon_skip_385882	3	93603571:93603740:93605179:93605347:93611776:93611966	93605179:93605347	ENSG00000184500.10	ENST00000394236.3,ENST00000407433.1
exon_skip_385884	3	93619647:93619773:93624627:93624759:93624864:93624987	93624627:93624759	ENSG00000184500.10	ENST00000394236.3,ENST00000407433.1
exon_skip_385886	3	93624883:93624987:93629462:93629549:93643083:93643108	93629462:93629549	ENSG00000184500.10	ENST00000472684.1,ENST00000348974.4,ENST00000394236.3,ENST00000407433.1
exon_skip_385887	3	93629462:93629549:93643083:93643108:93646093:93646251	93643083:93643108	ENSG00000184500.10	ENST00000472684.1,ENST00000348974.4,ENST00000394236.3,ENST00000407433.1
exon_skip_385889	3	93646093:93646251:93647545:93647641:93692517:93692706	93647545:93647641	ENSG00000184500.10	ENST00000348974.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for PROS1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_385881	3	93593087:93593249:93595809:93596035:93598006:93598158	93595809:93596035	ENSG00000184500.10	ENST00000394236.3,ENST00000407433.1
exon_skip_385882	3	93603571:93603740:93605179:93605347:93611776:93611966	93605179:93605347	ENSG00000184500.10	ENST00000394236.3,ENST00000407433.1
exon_skip_385884	3	93619647:93619773:93624627:93624759:93624864:93624987	93624627:93624759	ENSG00000184500.10	ENST00000394236.3,ENST00000407433.1
exon_skip_385886	3	93624883:93624987:93629462:93629549:93643083:93643108	93629462:93629549	ENSG00000184500.10	ENST00000394236.3,ENST00000407433.1,ENST00000348974.4,ENST00000472684.1
exon_skip_385887	3	93629462:93629549:93643083:93643108:93646093:93646251	93643083:93643108	ENSG00000184500.10	ENST00000394236.3,ENST00000407433.1,ENST00000348974.4,ENST00000472684.1
exon_skip_385889	3	93646093:93646251:93647545:93647641:93692517:93692706	93647545:93647641	ENSG00000184500.10	ENST00000348974.4

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 PROS1

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
ENST00000394236	93595809	93596035	Frame-shift
ENST00000394236	93643083	93643108	Frame-shift
ENST00000394236	93605179	93605347	In-frame
ENST00000394236	93624627	93624759	In-frame
ENST00000394236	93629462	93629549	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
ENST00000394236	93595809	93596035	Frame-shift
ENST00000394236	93643083	93643108	Frame-shift
ENST00000394236	93605179	93605347	In-frame
ENST00000394236	93624627	93624759	In-frame
ENST00000394236	93629462	93629549	In-frame

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Infer the effects of exon skipping event on protein functional features for PROS1

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
ENST00000394236	3573	676	93629462	93629549	577	663	86	115
ENST00000394236	3573	676	93624627	93624759	787	918	156	200
ENST00000394236	3573	676	93605179	93605347	1473	1640	385	441

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
ENST00000394236	3573	676	93629462	93629549	577	663	86	115
ENST00000394236	3573	676	93624627	93624759	787	918	156	200
ENST00000394236	3573	676	93605179	93605347	1473	1640	385	441

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
P07225	86	115	42	676	Chain	ID=PRO_0000022120;Note=Vitamin K-dependent protein S
P07225	86	115	42	87	Domain	Note=Gla;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00463
P07225	86	115	87	87	Natural variant	ID=VAR_046812;Note=In THPH5. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15238143;Dbxref=dbSNP:rs557733421,PMID:15238143
P07225	86	115	88	88	Natural variant	ID=VAR_046813;Note=In THPH5. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15712227;Dbxref=PMID:15712227
P07225	86	115	90	90	Natural variant	ID=VAR_046814;Note=In THPH5%3B produces around 50%25 of PROS1 levels compared to wild-type%3B has impaired secretion%3B intracellular degradation of unsecreted material is found. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11858485;Dbxref=d
P07225	86	115	90	90	Natural variant	ID=VAR_046815;Note=In THPH5. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7803790;Dbxref=dbSNP:rs200886866,PMID:7803790
P07225	86	115	95	95	Natural variant	ID=VAR_046816;Note=In THPH5. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8943854;Dbxref=dbSNP:rs144526169,PMID:8943854
P07225	86	115	95	95	Natural variant	ID=VAR_046817;Note=In THPH5%3B the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11927129,ECO:0000269\|PubMed:9241
P07225	86	115	98	98	Natural variant	ID=VAR_046818;Note=T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10790208;Dbxref=dbSNP:rs142805170,PMID:10790208
P07225	86	115	101	101	Natural variant	ID=VAR_046819;Note=In THPH5. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12632031;Dbxref=dbSNP:rs778731080,PMID:12632031
P07225	86	115	111	111	Natural variant	ID=VAR_046820;Note=In THPH5. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8765219;Dbxref=PMID:8765219
P07225	86	115	88	116	Region	Note=Thrombin-sensitive
P07225	156	200	42	676	Chain	ID=PRO_0000022120;Note=Vitamin K-dependent protein S
P07225	156	200	161	175	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P07225	156	200	171	184	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P07225	156	200	186	199	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P07225	156	200	157	200	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P07225	156	200	157	157	Natural variant	ID=VAR_046825;Note=In THPH5. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8765219;Dbxref=dbSNP:rs751090951,PMID:8765219
P07225	156	200	161	161	Natural variant	ID=VAR_046826;Note=In THPH5. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8765219;Dbxref=PMID:8765219
P07225	156	200	166	166	Natural variant	ID=VAR_046827;Note=In THPH5. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10706858;Dbxref=PMID:10706858
P07225	156	200	168	168	Natural variant	ID=VAR_046828;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12632031;Dbxref=dbSNP:rs144430063,PMID:12632031
P07225	156	200	175	175	Natural variant	ID=VAR_046829;Note=In THPH5. C->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10613647,ECO:0000269\|PubMed:15712227;Dbxref=PMID:10613647,PMID:15712227
P07225	156	200	186	186	Natural variant	ID=VAR_046830;Note=In THPH5. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8781426,ECO:0000269\|PubMed:8943854;Dbxref=dbSNP:rs779391826,PMID:8781426,PMID:8943854
P07225	156	200	196	196	Natural variant	ID=VAR_005566;Note=In THPH5%3B Tokushima%3B the specific activity decreases to 58%25 of that of the wild-type PROS1%3B the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. K->E;Ontology_t
P07225	385	441	42	676	Chain	ID=PRO_0000022120;Note=Vitamin K-dependent protein S
P07225	385	441	299	475	Domain	Note=Laminin G-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00122
P07225	385	441	385	385	Natural variant	ID=VAR_046856;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7803790;Dbxref=dbSNP:rs767653920,PMID:7803790
P07225	385	441	390	390	Natural variant	ID=VAR_046857;Note=In THPH5. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11776305;Dbxref=PMID:11776305

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
P07225	86	115	42	676	Chain	ID=PRO_0000022120;Note=Vitamin K-dependent protein S
P07225	86	115	42	87	Domain	Note=Gla;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00463
P07225	86	115	87	87	Natural variant	ID=VAR_046812;Note=In THPH5. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15238143;Dbxref=dbSNP:rs557733421,PMID:15238143
P07225	86	115	88	88	Natural variant	ID=VAR_046813;Note=In THPH5. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15712227;Dbxref=PMID:15712227
P07225	86	115	90	90	Natural variant	ID=VAR_046814;Note=In THPH5%3B produces around 50%25 of PROS1 levels compared to wild-type%3B has impaired secretion%3B intracellular degradation of unsecreted material is found. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11858485;Dbxref=d
P07225	86	115	90	90	Natural variant	ID=VAR_046815;Note=In THPH5. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7803790;Dbxref=dbSNP:rs200886866,PMID:7803790
P07225	86	115	95	95	Natural variant	ID=VAR_046816;Note=In THPH5. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8943854;Dbxref=dbSNP:rs144526169,PMID:8943854
P07225	86	115	95	95	Natural variant	ID=VAR_046817;Note=In THPH5%3B the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11927129,ECO:0000269\|PubMed:9241
P07225	86	115	98	98	Natural variant	ID=VAR_046818;Note=T->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10790208;Dbxref=dbSNP:rs142805170,PMID:10790208
P07225	86	115	101	101	Natural variant	ID=VAR_046819;Note=In THPH5. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12632031;Dbxref=dbSNP:rs778731080,PMID:12632031
P07225	86	115	111	111	Natural variant	ID=VAR_046820;Note=In THPH5. R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8765219;Dbxref=PMID:8765219
P07225	86	115	88	116	Region	Note=Thrombin-sensitive
P07225	156	200	42	676	Chain	ID=PRO_0000022120;Note=Vitamin K-dependent protein S
P07225	156	200	161	175	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P07225	156	200	171	184	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P07225	156	200	186	199	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
P07225	156	200	157	200	Domain	Note=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P07225	156	200	157	157	Natural variant	ID=VAR_046825;Note=In THPH5. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8765219;Dbxref=dbSNP:rs751090951,PMID:8765219
P07225	156	200	161	161	Natural variant	ID=VAR_046826;Note=In THPH5. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8765219;Dbxref=PMID:8765219
P07225	156	200	166	166	Natural variant	ID=VAR_046827;Note=In THPH5. N->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10706858;Dbxref=PMID:10706858
P07225	156	200	168	168	Natural variant	ID=VAR_046828;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12632031;Dbxref=dbSNP:rs144430063,PMID:12632031
P07225	156	200	175	175	Natural variant	ID=VAR_046829;Note=In THPH5. C->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10613647,ECO:0000269\|PubMed:15712227;Dbxref=PMID:10613647,PMID:15712227
P07225	156	200	186	186	Natural variant	ID=VAR_046830;Note=In THPH5. C->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8781426,ECO:0000269\|PubMed:8943854;Dbxref=dbSNP:rs779391826,PMID:8781426,PMID:8943854
P07225	156	200	196	196	Natural variant	ID=VAR_005566;Note=In THPH5%3B Tokushima%3B the specific activity decreases to 58%25 of that of the wild-type PROS1%3B the activated protein cofactor activity is inhibited by C4BPB with a dose dependency similar to that of wild-type PROS1. K->E;Ontology_t
P07225	385	441	42	676	Chain	ID=PRO_0000022120;Note=Vitamin K-dependent protein S
P07225	385	441	299	475	Domain	Note=Laminin G-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00122
P07225	385	441	385	385	Natural variant	ID=VAR_046856;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:7803790;Dbxref=dbSNP:rs767653920,PMID:7803790
P07225	385	441	390	390	Natural variant	ID=VAR_046857;Note=In THPH5. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11776305;Dbxref=PMID:11776305

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SNVs in the skipped exons for PROS1

- 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.

PROS1_LIHC_exon_skip_385882_psi_boxplot.png
boxplot

PROS1_LUAD_exon_skip_385882_psi_boxplot.png
boxplot

PROS1_SKCM_exon_skip_385882_psi_boxplot.png
boxplot

PROS1_STAD_exon_skip_385882_psi_boxplot.png
boxplot

PROS1_UCS_exon_skip_385882_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
LIHC	TCGA-DD-A39Y-01	exon_skip_385881	93595810	93596035	93595838	93595838	Frame_Shift_Del	T	-	p.K614fs
LIHC	TCGA-DD-A39Y-01	exon_skip_385881	93595810	93596035	93595853	93595853	Frame_Shift_Del	T	-	p.K609fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_385882	93605180	93605347	93605261	93605261	Frame_Shift_Del	A	-	p.F414fs
SKCM	TCGA-D3-A8GM-06	exon_skip_385882	93605180	93605347	93605261	93605261	Frame_Shift_Del	A	-	p.F414fs
STAD	TCGA-F1-6874-01	exon_skip_385882	93605180	93605347	93605261	93605261	Frame_Shift_Del	A	-	p.K415fs
LUAD	TCGA-05-4410-01	exon_skip_385882	93605180	93605347	93605239	93605239	Nonsense_Mutation	C	A	p.E422*
LUAD	TCGA-05-4410-01	exon_skip_385882	93605180	93605347	93605239	93605240	Nonsense_Mutation	CC	AT	p.E422*
BLCA	TCGA-DK-A6AW-01	exon_skip_385882	93605180	93605347	93605335	93605335	Nonsense_Mutation	C	A	p.E390*
STAD	TCGA-CD-5801-01	exon_skip_385881	93595810	93596035	93596037	93596037	Splice_Site	T	A	p.D549_splice
UCS	TCGA-ND-A4WC-01	exon_skip_385882	93605180	93605347	93605179	93605179	Splice_Site	C	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-ND-A4WC-01
	Cancer type: UCS
	ESID: exon_skip_385882
	Skipped exon start: 93605180
	Skipped exon end: 93605347
	Mutation start: 93605179
	Mutation end: 93605179
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: .
exon_skip_149665_UCS_TCGA-ND-A4WC-01.png
exon_skip_299626_UCS_TCGA-ND-A4WC-01.png
exon_skip_344918_UCS_TCGA-ND-A4WC-01.png
exon_skip_360263_UCS_TCGA-ND-A4WC-01.png
exon_skip_382353_UCS_TCGA-ND-A4WC-01.png
exon_skip_385882_UCS_TCGA-ND-A4WC-01.png
exon_skip_443509_UCS_TCGA-ND-A4WC-01.png
exon_skip_45962_UCS_TCGA-ND-A4WC-01.png
exon_skip_48320_UCS_TCGA-ND-A4WC-01.png
exon_skip_484856_UCS_TCGA-ND-A4WC-01.png
exon_skip_59444_UCS_TCGA-ND-A4WC-01.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
KPNRTBM1_AUTONOMIC_GANGLIA	93595810	93596035	93595920	93595920	Missense_Mutation	G	A	p.S587L
NCIBL1395_MATCHED_NORMAL_TISSUE	93595810	93596035	93595925	93595925	Missense_Mutation	C	A	p.E585D
NCIH1395_LUNG	93595810	93596035	93595925	93595925	Missense_Mutation	C	A	p.E585D
DV90_LUNG	93595810	93596035	93595932	93595932	Missense_Mutation	T	C	p.N583S
PATU8902_PANCREAS	93595810	93596035	93595966	93595966	Missense_Mutation	G	T	p.Q572K
NCIH2052_PLEURA	93595810	93596035	93595993	93595993	Missense_Mutation	G	T	p.Q563K
HCT15_LARGE_INTESTINE	93595810	93596035	93595998	93595998	Missense_Mutation	C	T	p.R561Q
GEO_LARGE_INTESTINE	93605180	93605347	93605197	93605197	Missense_Mutation	T	A	p.S436C
NH6_AUTONOMIC_GANGLIA	93605180	93605347	93605248	93605248	Missense_Mutation	C	T	p.G419R
HCC1569_BREAST	93605180	93605347	93605286	93605286	Missense_Mutation	T	G	p.D406A
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	93605180	93605347	93605331	93605331	Missense_Mutation	A	G	p.L391S
NCIH524_LUNG	93624628	93624759	93624637	93624637	Missense_Mutation	C	A	p.D198Y
TFK1_BILIARY_TRACT	93624628	93624759	93624643	93624643	Missense_Mutation	T	C	p.K196E
HUH28_BILIARY_TRACT	93624628	93624759	93624643	93624643	Missense_Mutation	T	C	p.K196E
KP2_PANCREAS	93624628	93624759	93624643	93624643	Missense_Mutation	T	C	p.K196E
GB1_CENTRAL_NERVOUS_SYSTEM	93624628	93624759	93624643	93624643	Missense_Mutation	T	C	p.K196E
SKN3_UPPER_AERODIGESTIVE_TRACT	93624628	93624759	93624643	93624643	Missense_Mutation	T	C	p.K196E
CW2_LARGE_INTESTINE	93624628	93624759	93624643	93624643	Missense_Mutation	T	C	p.K196E
RERFLCFM_LUNG	93624628	93624759	93624643	93624643	Missense_Mutation	T	C	p.K196E
NB69_AUTONOMIC_GANGLIA	93624628	93624759	93624733	93624733	Missense_Mutation	T	G	p.N166H
YD38_UPPER_AERODIGESTIVE_TRACT	93629463	93629549	93629493	93629493	Missense_Mutation	C	T	p.A106T
SKUT1_SOFT_TISSUE	93629463	93629549	93629507	93629507	Missense_Mutation	C	T	p.R101H
LN340_CENTRAL_NERVOUS_SYSTEM	93629463	93629549	93629526	93629526	Missense_Mutation	C	G	p.G95R
SNU81_LARGE_INTESTINE	93629463	93629549	93629541	93629541	Missense_Mutation	G	A	p.R90C
KYSE140_OESOPHAGUS	93595810	93596035	93595969	93595969	Nonsense_Mutation	G	A	p.Q571*
NCIH510_LUNG	93643084	93643108	93643108	93643108	Splice_Site	C	A	p.D79Y

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PROS1

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 PROS1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PROS1

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RelatedDrugs for PROS1

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
	P07225	DB00464	Sodium Tetradecyl Sulfate	Vitamin K-dependent protein S	small molecule	approved\|investigational
	P07225	DB00055	Drotrecogin alfa	Vitamin K-dependent protein S	biotech	approved\|investigational\|withdrawn
	P07225	DB00170	Menadione	Vitamin K-dependent protein S	small molecule	approved\|nutraceutical

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RelatedDiseases for PROS1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PROS1	C3278211	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	26	CTD_human;UNIPROT
PROS1	C0035222	Respiratory Distress Syndrome, Adult	1	CTD_human
PROS1	C0040038	Thromboembolism	1	CTD_human
PROS1	C0040053	Thrombosis	1	CTD_human
PROS1	C0338575	Sagittal Sinus Thrombosis	1	CTD_human
PROS1	C0600433	Activated Protein C Resistance	1	CTD_human
PROS1	C3281092	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE	1	UNIPROT
PROS1	C3495559	Juvenile arthritis	1	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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