ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for F7

Gene summary

Gene information	Gene symbol	F7
	Gene ID	2155
	Gene name	coagulation factor VII
	Synonyms	SPCA
	Cytomap	13q34
	Type of gene	protein-coding
	Description	coagulation factor VIIFVII coagulation proteincoagulation factor VII (serum prothrombin conversion accelerator)eptacog alfaproconvertin
	Modification date	20180523
	UniProtAcc	P08709
	Context	PubMed: F7 [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
F7	GO:0002690	positive regulation of leukocyte chemotaxis	17991872
F7	GO:0007596	blood coagulation	8632006\|24998411
F7	GO:0010641	positive regulation of platelet-derived growth factor receptor signaling pathway	17991872
F7	GO:0016485	protein processing	24998411
F7	GO:0050927	positive regulation of positive chemotaxis	17991872
F7	GO:0051897	positive regulation of protein kinase B signaling	18612547

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Exon skipping events across known transcript of Ensembl for F7 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 F7

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 F7

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_101516	13	113760152:113760219:113761158:113761224:113765003:113765164	113761158:113761224	ENSG00000057593.9	ENST00000375581.3
exon_skip_101530	13	113765017:113765164:113768065:113768090:113768160:113768274	113768065:113768090	ENSG00000057593.9	ENST00000375581.3,ENST00000473085.1,ENST00000346342.3
exon_skip_101539	13	113768160:113768274:113769973:113770114:113771079:113771102	113769973:113770114	ENSG00000057593.9	ENST00000375581.3,ENST00000444337.1,ENST00000541084.1,ENST00000346342.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for F7

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_101516	13	113760152:113760219:113761158:113761224:113765003:113765164	113761158:113761224	ENSG00000057593.9	ENST00000375581.3
exon_skip_101530	13	113765017:113765164:113768065:113768090:113768160:113768274	113768065:113768090	ENSG00000057593.9	ENST00000346342.3,ENST00000375581.3,ENST00000473085.1
exon_skip_101539	13	113768160:113768274:113769973:113770114:113771079:113771102	113769973:113770114	ENSG00000057593.9	ENST00000346342.3,ENST00000541084.1,ENST00000375581.3,ENST00000444337.1

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 F7

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
ENST00000375581	113768065	113768090	Frame-shift
ENST00000375581	113761158	113761224	In-frame
ENST00000375581	113769973	113770114	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
ENST00000375581	113768065	113768090	Frame-shift
ENST00000375581	113761158	113761224	In-frame
ENST00000375581	113769973	113770114	In-frame

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Infer the effects of exon skipping event on protein functional features for F7

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
ENST00000375581	3126	466	113761158	113761224	100	165	21	43
ENST00000375581	3126	466	113769973	113770114	466	606	143	190

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
ENST00000375581	3126	466	113761158	113761224	100	165	21	43
ENST00000375581	3126	466	113769973	113770114	466	606	143	190

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
P08709	21	43	22	43	Alternative sequence	ID=VSP_005387;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:3486420;Dbxref=PMID:15489334,PMID:3486420
P08709	21	43	21	60	Propeptide	ID=PRO_0000027729;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3264725;Dbxref=PMID:3264725
P08709	143	190	148	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1QFK
P08709	143	190	159	165	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	169	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	178	180	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	187	189	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	61	212	Chain	ID=PRO_0000027730;Note=Factor VII light chain
P08709	143	190	151	162	Disulfide bond	.
P08709	143	190	158	172	Disulfide bond	.
P08709	143	190	174	187	Disulfide bond	.
P08709	143	190	147	188	Domain	Note=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P08709	143	190	145	147	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2C4F
P08709	143	190	154	157	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	151	151	Natural variant	ID=VAR_014410;Note=In FA7D. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11129332;Dbxref=PMID:11129332
P08709	143	190	154	154	Natural variant	ID=VAR_015137;Note=In FA7D. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10862079,ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs146795869,PMID:10862079,PMID:18976247
P08709	143	190	156	156	Natural variant	ID=VAR_065378;Note=In FA7D. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs563972504,PMID:18976247
P08709	143	190	157	157	Natural variant	ID=VAR_006501;Note=In FA7D. G->C
P08709	143	190	157	157	Natural variant	ID=VAR_006500;Note=In FA7D. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10862079,ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs763458490,PMID:10862079,PMID:18976247
P08709	143	190	157	157	Natural variant	ID=VAR_014411;Note=In FA7D. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11129332;Dbxref=dbSNP:rs771335282,PMID:11129332
P08709	143	190	160	160	Natural variant	ID=VAR_006502;Note=In FA7D. Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10862079,ECO:0000269\|PubMed:11129332,ECO:0000269\|PubMed:18976247,ECO:0000269\|PubMed:8242057;Dbxref=dbSNP:rs200016360,PMID:10862079,P
P08709	143	190	171	171	Natural variant	ID=VAR_065379;Note=In FA7D. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs143855920,PMID:18976247
P08709	143	190	177	177	Natural variant	ID=VAR_065380;Note=In FA7D. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19751712;Dbxref=PMID:19751712
P08709	143	190	181	181	Natural variant	ID=VAR_065381;Note=In FA7D. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=PMID:18976247
P08709	143	190	183	183	Natural variant	ID=VAR_065382;Note=In FA7D. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs1258691292,PMID:18976247
P08709	143	190	186	186	Natural variant	ID=VAR_065383;Note=In FA7D. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs764971156,PMID:18976247
P08709	143	190	189	189	Natural variant	ID=VAR_065384;Note=In FA7D. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs1479693459,PMID:18976247
P08709	143	190	151	153	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4YLQ
P08709	143	190	166	168	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG

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
P08709	21	43	22	43	Alternative sequence	ID=VSP_005387;Note=In isoform B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:3486420;Dbxref=PMID:15489334,PMID:3486420
P08709	21	43	21	60	Propeptide	ID=PRO_0000027729;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3264725;Dbxref=PMID:3264725
P08709	143	190	148	150	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1QFK
P08709	143	190	159	165	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	169	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	178	180	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	187	189	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	61	212	Chain	ID=PRO_0000027730;Note=Factor VII light chain
P08709	143	190	151	162	Disulfide bond	.
P08709	143	190	158	172	Disulfide bond	.
P08709	143	190	174	187	Disulfide bond	.
P08709	143	190	147	188	Domain	Note=EGF-like 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
P08709	143	190	145	147	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2C4F
P08709	143	190	154	157	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG
P08709	143	190	151	151	Natural variant	ID=VAR_014410;Note=In FA7D. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11129332;Dbxref=PMID:11129332
P08709	143	190	154	154	Natural variant	ID=VAR_015137;Note=In FA7D. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10862079,ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs146795869,PMID:10862079,PMID:18976247
P08709	143	190	156	156	Natural variant	ID=VAR_065378;Note=In FA7D. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs563972504,PMID:18976247
P08709	143	190	157	157	Natural variant	ID=VAR_006501;Note=In FA7D. G->C
P08709	143	190	157	157	Natural variant	ID=VAR_006500;Note=In FA7D. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10862079,ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs763458490,PMID:10862079,PMID:18976247
P08709	143	190	157	157	Natural variant	ID=VAR_014411;Note=In FA7D. G->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11129332;Dbxref=dbSNP:rs771335282,PMID:11129332
P08709	143	190	160	160	Natural variant	ID=VAR_006502;Note=In FA7D. Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10862079,ECO:0000269\|PubMed:11129332,ECO:0000269\|PubMed:18976247,ECO:0000269\|PubMed:8242057;Dbxref=dbSNP:rs200016360,PMID:10862079,P
P08709	143	190	171	171	Natural variant	ID=VAR_065379;Note=In FA7D. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs143855920,PMID:18976247
P08709	143	190	177	177	Natural variant	ID=VAR_065380;Note=In FA7D. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19751712;Dbxref=PMID:19751712
P08709	143	190	181	181	Natural variant	ID=VAR_065381;Note=In FA7D. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=PMID:18976247
P08709	143	190	183	183	Natural variant	ID=VAR_065382;Note=In FA7D. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs1258691292,PMID:18976247
P08709	143	190	186	186	Natural variant	ID=VAR_065383;Note=In FA7D. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs764971156,PMID:18976247
P08709	143	190	189	189	Natural variant	ID=VAR_065384;Note=In FA7D. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:18976247;Dbxref=dbSNP:rs1479693459,PMID:18976247
P08709	143	190	151	153	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4YLQ
P08709	143	190	166	168	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5PAG

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SNVs in the skipped exons for F7

- 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.

F7_LIHC_exon_skip_101516_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-G3-A3CJ-01	exon_skip_101516	113761159	113761224	113761211	113761211	Frame_Shift_Del	G	-	p.P39fs
LIHC	TCGA-DD-A39Y-01	exon_skip_101539	113769974	113770114	113770041	113770041	Frame_Shift_Del	G	-	p.T166fs

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-G3-A3CJ-01
	Cancer type: LIHC
	ESID: exon_skip_101516
	Skipped exon start: 113761159
	Skipped exon end: 113761224
	Mutation start: 113761211
	Mutation end: 113761211
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P39fs
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11937_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_11939_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124065_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124066_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_124693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126824_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126833_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_126836_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1268_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1270_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_127101_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1274_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_128729_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129795_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_129799_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131401_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_131474_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135545_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_135553_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_13626_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138373_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_138676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_141657_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143515_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_143728_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_14564_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_149490_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_153354_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1873_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_1874_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_24442_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_284510_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289275_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_289905_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_291218_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293221_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_293223_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300058_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_300676_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302253_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_302693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_305815_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30789_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_30792_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309404_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309486_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309505_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_309539_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_311823_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_313290_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315285_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_315286_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_316122_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_325693_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327441_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_327550_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329666_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_329933_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_331517_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354387_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_354396_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_356468_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365019_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_365023_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_371589_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_382738_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_385031_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png
exon_skip_421130_LIHC_TCGA-G3-A3CJ-01.png
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- 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
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	113761159	113761224	113761208	113761208	Missense_Mutation	G	T	p.K38N
JHUEM7_ENDOMETRIUM	113768066	113768090	113768082	113768082	Missense_Mutation	C	A	p.S103Y
HS746T_STOMACH	113769974	113770114	113769980	113769980	Missense_Mutation	A	G	p.D146G
OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	113769974	113770114	113769988	113769988	Missense_Mutation	C	G	p.L149V
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	113769974	113770114	113769998	113769998	Missense_Mutation	T	A	p.V152E
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	113769974	113770114	113770060	113770060	Missense_Mutation	C	T	p.R173W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for F7

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 F7

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for F7

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RelatedDrugs for F7

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
	P08709	DB00036	Coagulation factor VIIa Recombinant Human	Coagulation factor VII	biotech	approved
	P08709	DB13151	Anti-inhibitor coagulant complex	Coagulation factor VII	biotech	approved\|investigational
	P08709	DB00170	Menadione	Coagulation factor VII	small molecule	approved\|nutraceutical

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RelatedDiseases for F7

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
F7	C0015503	Factor VII Deficiency	16	CTD_human;HPO;ORPHANET;UNIPROT
F7	C0151699	Intracranial Hemorrhages	5	CTD_human;HPO
F7	C0019080	Hemorrhage	3	CTD_human
F7	C2937358	Cerebral Hemorrhage	2	CTD_human
F7	C0012739	Disseminated Intravascular Coagulation	1	CTD_human
F7	C0018965	Hematuria	1	CTD_human
F7	C0019087	Hemorrhagic Disorders	1	CTD_human
F7	C0032787	Postoperative Complications	1	CTD_human
F7	C0040038	Thromboembolism	1	CTD_human
F7	C0042487	Venous Thrombosis	1	CTD_human
F7	C0273058	Traumatic intracranial hemorrhage	1	CTD_human
F7	C0749098	Hematoma, Subdural, Acute	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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