ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SCAP

Gene summary

Gene information	Gene symbol	SCAP
	Gene ID	22937
	Gene name	SREBF chaperone
	Synonyms	-
	Cytomap	3p21.31
	Type of gene	protein-coding
	Description	sterol regulatory element-binding protein cleavage-activating proteinSREBP cleavage-activating protein
	Modification date	20180522
	UniProtAcc	Q12770
	Context	PubMed: SCAP [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

Top

Exon skipping events across known transcript of Ensembl for SCAP 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.

Top

Gene isoform structures and expression levels for SCAP

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for SCAP

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_383135	3	47455669:47455876:47456061:47456142:47456316:47456483	47456061:47456142	ENSG00000114650.14	ENST00000320017.6,ENST00000441517.2,ENST00000265565.5,ENST00000545718.1
exon_skip_383139	3	47456316:47456483:47456587:47456670:47458611:47458697	47456587:47456670	ENSG00000114650.14	ENST00000320017.6,ENST00000441517.2,ENST00000265565.5,ENST00000545718.1
exon_skip_383154	3	47458611:47458697:47458793:47459313:47459623:47459739	47458793:47459313	ENSG00000114650.14	ENST00000320017.6,ENST00000441517.2,ENST00000545718.1
exon_skip_383156	3	47458611:47458697:47458793:47459316:47459623:47459739	47458793:47459316	ENSG00000114650.14	ENST00000265565.5
exon_skip_383164	3	47462420:47462519:47463931:47464026:47465422:47465535	47463931:47464026	ENSG00000114650.14	ENST00000320017.6,ENST00000441517.2,ENST00000265565.5,ENST00000545718.1
exon_skip_383165	3	47462420:47462519:47463931:47464026:47476497:47476627	47463931:47464026	ENSG00000114650.14	ENST00000416208.1
exon_skip_383168	3	47463931:47464026:47465422:47465535:47466974:47467101	47465422:47465535	ENSG00000114650.14	ENST00000441517.2,ENST00000265565.5
exon_skip_383170	3	47463931:47464026:47465422:47465535:47476497:47476627	47465422:47465535	ENSG00000114650.14	ENST00000320017.6,ENST00000545718.1
exon_skip_383174	3	47463931:47464026:47476497:47476627:47484361:47484581	47476497:47476627	ENSG00000114650.14	ENST00000416208.1
exon_skip_383177	3	47465422:47465535:47476497:47476627:47484361:47484581	47476497:47476627	ENSG00000114650.14	ENST00000320017.6,ENST00000545718.1
exon_skip_383178	3	47466974:47467101:47467486:47467659:47476497:47476627	47467486:47467659	ENSG00000114650.14	ENST00000441517.2,ENST00000428413.1
exon_skip_383179	3	47467486:47467659:47468646:47468752:47468936:47469157	47468646:47468752	ENSG00000114650.14	ENST00000265565.5
exon_skip_383184	3	47469128:47469157:47470002:47470160:47476497:47476627	47470002:47470160	ENSG00000114650.14	ENST00000265565.5
exon_skip_383187	3	47470050:47470160:47476414:47476627:47484361:47484581	47476414:47476627	ENSG00000114650.14	ENST00000420588.1
exon_skip_383188	3	47470050:47470160:47476497:47476627:47484361:47484581	47476497:47476627	ENSG00000114650.14	ENST00000416847.1,ENST00000495603.2,ENST00000265565.5
exon_skip_383190	3	47476497:47476627:47484361:47484581:47517288:47517339	47484361:47484581	ENSG00000114650.14	ENST00000441517.2,ENST00000428413.1,ENST00000265565.5,ENST00000545718.1,ENST00000416208.1

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for SCAP

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_383135	3	47455669:47455876:47456061:47456142:47456316:47456483	47456061:47456142	ENSG00000114650.14	ENST00000320017.6,ENST00000265565.5,ENST00000441517.2,ENST00000545718.1
exon_skip_383139	3	47456316:47456483:47456587:47456670:47458611:47458697	47456587:47456670	ENSG00000114650.14	ENST00000320017.6,ENST00000265565.5,ENST00000441517.2,ENST00000545718.1
exon_skip_383154	3	47458611:47458697:47458793:47459313:47459623:47459739	47458793:47459313	ENSG00000114650.14	ENST00000320017.6,ENST00000441517.2,ENST00000545718.1
exon_skip_383156	3	47458611:47458697:47458793:47459316:47459623:47459739	47458793:47459316	ENSG00000114650.14	ENST00000265565.5
exon_skip_383164	3	47462420:47462519:47463931:47464026:47465422:47465535	47463931:47464026	ENSG00000114650.14	ENST00000320017.6,ENST00000265565.5,ENST00000441517.2,ENST00000545718.1
exon_skip_383165	3	47462420:47462519:47463931:47464026:47476497:47476627	47463931:47464026	ENSG00000114650.14	ENST00000416208.1
exon_skip_383168	3	47463931:47464026:47465422:47465535:47466974:47467101	47465422:47465535	ENSG00000114650.14	ENST00000265565.5,ENST00000441517.2
exon_skip_383170	3	47463931:47464026:47465422:47465535:47476497:47476627	47465422:47465535	ENSG00000114650.14	ENST00000320017.6,ENST00000545718.1
exon_skip_383174	3	47463931:47464026:47476497:47476627:47484361:47484581	47476497:47476627	ENSG00000114650.14	ENST00000416208.1
exon_skip_383177	3	47465422:47465535:47476497:47476627:47484361:47484581	47476497:47476627	ENSG00000114650.14	ENST00000320017.6,ENST00000545718.1
exon_skip_383178	3	47466974:47467101:47467486:47467659:47476497:47476627	47467486:47467659	ENSG00000114650.14	ENST00000441517.2,ENST00000428413.1
exon_skip_383179	3	47467486:47467659:47468646:47468752:47468936:47469157	47468646:47468752	ENSG00000114650.14	ENST00000265565.5
exon_skip_383183	3	47467486:47467659:47476497:47476627:47484361:47484581	47476497:47476627	ENSG00000114650.14	ENST00000441517.2,ENST00000428413.1
exon_skip_383184	3	47469128:47469157:47470002:47470160:47476497:47476627	47470002:47470160	ENSG00000114650.14	ENST00000265565.5
exon_skip_383187	3	47470050:47470160:47476414:47476627:47484361:47484581	47476414:47476627	ENSG00000114650.14	ENST00000420588.1
exon_skip_383188	3	47470050:47470160:47476497:47476627:47484361:47484581	47476497:47476627	ENSG00000114650.14	ENST00000265565.5,ENST00000416847.1,ENST00000495603.2
exon_skip_383190	3	47476497:47476627:47484361:47484581:47517288:47517339	47484361:47484581	ENSG00000114650.14	ENST00000265565.5,ENST00000441517.2,ENST00000545718.1,ENST00000416208.1,ENST00000428413.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

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

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
ENST00000265565	47484361	47484581	3UTR-3CDS
ENST00000265565	47456587	47456670	Frame-shift
ENST00000265565	47458793	47459316	Frame-shift
ENST00000265565	47463931	47464026	Frame-shift
ENST00000265565	47465422	47465535	Frame-shift
ENST00000265565	47468646	47468752	Frame-shift
ENST00000265565	47470002	47470160	Frame-shift
ENST00000265565	47476497	47476627	Frame-shift
ENST00000265565	47456061	47456142	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
ENST00000265565	47484361	47484581	3UTR-3CDS
ENST00000265565	47456587	47456670	Frame-shift
ENST00000265565	47458793	47459316	Frame-shift
ENST00000265565	47463931	47464026	Frame-shift
ENST00000265565	47465422	47465535	Frame-shift
ENST00000265565	47468646	47468752	Frame-shift
ENST00000265565	47470002	47470160	Frame-shift
ENST00000265565	47476497	47476627	Frame-shift
ENST00000265565	47456061	47456142	In-frame

Top

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

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
ENST00000265565	4411	1279	47456061	47456142	3720	3800	1102	1129

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
ENST00000265565	4411	1279	47456061	47456142	3720	3800	1102	1129

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
Q12770	1102	1129	1	1279	Chain	ID=PRO_0000051208;Note=Sterol regulatory element-binding protein cleavage-activating protein
Q12770	1102	1129	731	1279	Region	Note=Interaction with SREBF2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q12770	1102	1129	1077	1114	Repeat	Note=WD 4
Q12770	1102	1129	1117	1155	Repeat	Note=WD 5
Q12770	1102	1129	731	1279	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q12770	1102	1129	1	1279	Chain	ID=PRO_0000051208;Note=Sterol regulatory element-binding protein cleavage-activating protein
Q12770	1102	1129	731	1279	Region	Note=Interaction with SREBF2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q12770	1102	1129	1077	1114	Repeat	Note=WD 4
Q12770	1102	1129	1117	1155	Repeat	Note=WD 5
Q12770	1102	1129	731	1279	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250

Top

SNVs in the skipped exons for SCAP

- 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.

SCAP_STAD_exon_skip_383154_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-A3A0-01	exon_skip_383154	47458794	47459313	47459120	47459120	Frame_Shift_Del	A	-	p.S882fs
LIHC	TCGA-DD-A3A0-01	exon_skip_383156	47458794	47459316	47459120	47459120	Frame_Shift_Del	A	-	p.S882fs
STAD	TCGA-BR-4370-01	exon_skip_383154	47458794	47459313	47459204	47459204	Frame_Shift_Del	G	-	p.L854fs
STAD	TCGA-BR-4370-01	exon_skip_383156	47458794	47459316	47459204	47459204	Frame_Shift_Del	G	-	p.L854fs
LIHC	TCGA-DD-A1EG-01	exon_skip_383184	47470003	47470160	47470052	47470052	Frame_Shift_Del	G	-	p.R121fs
BLCA	TCGA-HQ-A5NE-01	exon_skip_383154	47458794	47459313	47459101	47459101	Nonsense_Mutation	G	C	p.S888*
BLCA	TCGA-HQ-A5NE-01	exon_skip_383156	47458794	47459316	47459101	47459101	Nonsense_Mutation	G	C	p.S888*
LUAD	TCGA-49-4514-01	exon_skip_383168 exon_skip_383170	47465423	47465535	47465464	47465464	Nonsense_Mutation	G	C	p.S370*
LIHC	TCGA-BC-A112-01	exon_skip_383188 exon_skip_383174 exon_skip_383177 exon_skip_383187	47476415	47476627	47476584	47476584	Nonsense_Mutation	C	A	p.E56X
LIHC	TCGA-BC-A112-01	exon_skip_383188 exon_skip_383174 exon_skip_383177 exon_skip_383187	47476498	47476627	47476584	47476584	Nonsense_Mutation	C	A	p.E56X
LIHC	TCGA-G3-A3CJ-01	exon_skip_383156	47458794	47459316	47459317	47459317	Splice_Site	C	T	.
CESC	TCGA-Q1-A73O-01	exon_skip_383168 exon_skip_383170	47465423	47465535	47465422	47465422	Splice_Site	C	G	e8+1
SARC	TCGA-K1-A6RT-01	exon_skip_383184	47470003	47470160	47470002	47470002	Splice_Site	C	T	e3+1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-Q1-A73O-01
	Cancer type: CESC
	ESID: exon_skip_383170
	Skipped exon start: 47465423
	Skipped exon end: 47465535
	Mutation start: 47465422
	Mutation end: 47465422
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: G
	AAchange: e8+1
exon_skip_324730_CESC_TCGA-Q1-A73O-01.png
exon_skip_339359_CESC_TCGA-Q1-A73O-01.png
exon_skip_383170_CESC_TCGA-Q1-A73O-01.png
exon_skip_54542_CESC_TCGA-Q1-A73O-01.png
	Sample: TCGA-BR-4370-01
	Cancer type: STAD
	ESID: exon_skip_383156
	Skipped exon start: 47458794
	Skipped exon end: 47459316
	Mutation start: 47459204
	Mutation end: 47459204
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L854fs
	Sample: TCGA-BR-4370-01
	Cancer type: STAD
	ESID: exon_skip_383154
	Skipped exon start: 47458794
	Skipped exon end: 47459313
	Mutation start: 47459204
	Mutation end: 47459204
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L854fs
exon_skip_140730_STAD_TCGA-BR-4370-01.png
exon_skip_2974_STAD_TCGA-BR-4370-01.png
exon_skip_330351_STAD_TCGA-BR-4370-01.png
exon_skip_357567_STAD_TCGA-BR-4370-01.png
exon_skip_357575_STAD_TCGA-BR-4370-01.png
exon_skip_357579_STAD_TCGA-BR-4370-01.png
exon_skip_372669_STAD_TCGA-BR-4370-01.png
exon_skip_383154_STAD_TCGA-BR-4370-01.png
exon_skip_383156_STAD_TCGA-BR-4370-01.png
exon_skip_389202_STAD_TCGA-BR-4370-01.png
exon_skip_42584_STAD_TCGA-BR-4370-01.png
exon_skip_439047_STAD_TCGA-BR-4370-01.png
exon_skip_439048_STAD_TCGA-BR-4370-01.png
exon_skip_450406_STAD_TCGA-BR-4370-01.png
exon_skip_483956_STAD_TCGA-BR-4370-01.png
	Sample: TCGA-BR-4370-01
	Cancer type: STAD
	ESID: exon_skip_383156
	Skipped exon start: 47458794
	Skipped exon end: 47459316
	Mutation start: 47459204
	Mutation end: 47459204
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L854fs
	Sample: TCGA-BR-4370-01
	Cancer type: STAD
	ESID: exon_skip_383154
	Skipped exon start: 47458794
	Skipped exon end: 47459313
	Mutation start: 47459204
	Mutation end: 47459204
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L854fs
exon_skip_140730_STAD_TCGA-BR-4370-01.png
exon_skip_2974_STAD_TCGA-BR-4370-01.png
exon_skip_330351_STAD_TCGA-BR-4370-01.png
exon_skip_357567_STAD_TCGA-BR-4370-01.png
exon_skip_357575_STAD_TCGA-BR-4370-01.png
exon_skip_357579_STAD_TCGA-BR-4370-01.png
exon_skip_372669_STAD_TCGA-BR-4370-01.png
exon_skip_383154_STAD_TCGA-BR-4370-01.png
exon_skip_383156_STAD_TCGA-BR-4370-01.png
exon_skip_389202_STAD_TCGA-BR-4370-01.png
exon_skip_42584_STAD_TCGA-BR-4370-01.png
exon_skip_439047_STAD_TCGA-BR-4370-01.png
exon_skip_439048_STAD_TCGA-BR-4370-01.png
exon_skip_450406_STAD_TCGA-BR-4370-01.png
exon_skip_483956_STAD_TCGA-BR-4370-01.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
PK59_PANCREAS	47458794	47459316	47458868	47458868	Missense_Mutation	C	T	p.A966T
PK59_PANCREAS	47458794	47459313	47458868	47458868	Missense_Mutation	C	T	p.A966T
ES2_OVARY	47458794	47459316	47458874	47458874	Missense_Mutation	G	A	p.P964S
ES2_OVARY	47458794	47459313	47458874	47458874	Missense_Mutation	G	A	p.P964S
NCIH1339_LUNG	47458794	47459316	47458918	47458918	Missense_Mutation	T	G	p.E949A
NCIH1339_LUNG	47458794	47459313	47458918	47458918	Missense_Mutation	T	G	p.E949A
MFE319_ENDOMETRIUM	47458794	47459316	47459068	47459068	Missense_Mutation	G	A	p.A899V
MFE319_ENDOMETRIUM	47458794	47459313	47459068	47459068	Missense_Mutation	G	A	p.A899V
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47458794	47459316	47459185	47459185	Missense_Mutation	C	T	p.G860D
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47458794	47459313	47459185	47459185	Missense_Mutation	C	T	p.G860D
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47458794	47459316	47459188	47459188	Missense_Mutation	C	G	p.R859P
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47458794	47459313	47459188	47459188	Missense_Mutation	C	G	p.R859P
SARC9371_BONE	47458794	47459316	47459189	47459189	Missense_Mutation	G	A	p.R859W
SARC9371_BONE	47458794	47459313	47459189	47459189	Missense_Mutation	G	A	p.R859W
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47458794	47459316	47459282	47459282	Missense_Mutation	G	A	p.L828F
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47458794	47459313	47459282	47459282	Missense_Mutation	G	A	p.L828F
KYSE150_OESOPHAGUS	47458794	47459316	47459294	47459294	Missense_Mutation	C	A	p.V824L
KYSE150_OESOPHAGUS	47458794	47459313	47459294	47459294	Missense_Mutation	C	A	p.V824L
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47463932	47464026	47463961	47463961	Missense_Mutation	C	T	p.G406S
MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47463932	47464026	47463988	47463988	Missense_Mutation	C	T	p.A397T
HEC59_ENDOMETRIUM	47467487	47467659	47467489	47467489	Missense_Mutation	G	A	p.T303M
NBTU110_AUTONOMIC_GANGLIA	47467487	47467659	47467531	47467531	Missense_Mutation	A	G	p.V289A
OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47467487	47467659	47467560	47467560	Missense_Mutation	C	G	p.E279D
GP2D_LARGE_INTESTINE	47467487	47467659	47467594	47467594	Missense_Mutation	G	A	p.A268V
GP5D_LARGE_INTESTINE	47467487	47467659	47467594	47467594	Missense_Mutation	G	A	p.A268V
MCC13_SKIN	47467487	47467659	47467612	47467613	Missense_Mutation	GG	AA	p.P262F
MCC13_SKIN	47467487	47467659	47467613	47467613	Missense_Mutation	G	A	p.P262S
SNU1040_LARGE_INTESTINE	47467487	47467659	47467636	47467636	Missense_Mutation	C	T	p.R254H
LU99_LUNG	47467487	47467659	47467643	47467643	Missense_Mutation	G	A	p.R252C
BICR18_UPPER_AERODIGESTIVE_TRACT	47468647	47468752	47468659	47468659	Missense_Mutation	T	C	p.H242R
IM95_STOMACH	47468647	47468752	47468672	47468672	Missense_Mutation	G	T	p.L238M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47468647	47468752	47468701	47468701	Missense_Mutation	C	T	p.R228K
SNU840_OVARY	47470003	47470160	47470007	47470007	Missense_Mutation	C	G	p.D136H
SNGM_ENDOMETRIUM	47470003	47470160	47470048	47470048	Missense_Mutation	G	A	p.A122V
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47470003	47470160	47470054	47470054	Missense_Mutation	G	T	p.S120Y
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47470003	47470160	47470088	47470088	Missense_Mutation	G	A	p.L109F
OC316_OVARY	47470003	47470160	47470112	47470112	Missense_Mutation	A	G	p.S101P
OC314_OVARY	47470003	47470160	47470112	47470112	Missense_Mutation	A	G	p.S101P
HEC1A_ENDOMETRIUM	47470003	47470160	47470115	47470115	Missense_Mutation	A	G	p.S100P
HEC1_ENDOMETRIUM	47470003	47470160	47470115	47470115	Missense_Mutation	A	G	p.S100P
HEC1B_ENDOMETRIUM	47470003	47470160	47470115	47470115	Missense_Mutation	A	G	p.S100P
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47470003	47470160	47470125	47470125	Missense_Mutation	T	C	p.I96M
ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47470003	47470160	47470127	47470127	Missense_Mutation	T	C	p.I96V
SNU1105_CENTRAL_NERVOUS_SYSTEM	47470003	47470160	47470127	47470127	Missense_Mutation	T	C	p.I96V
HS739T_FIBROBLAST	47470003	47470160	47470127	47470127	Missense_Mutation	T	C	p.I96V
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47476498	47476627	47476556	47476556	Missense_Mutation	G	A	p.S65L
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	47476415	47476627	47476556	47476556	Missense_Mutation	G	A	p.S65L
647V_URINARY_TRACT	47476498	47476627	47476574	47476574	Missense_Mutation	G	T	p.T59N
647V_URINARY_TRACT	47476415	47476627	47476574	47476574	Missense_Mutation	G	T	p.T59N
COV362_OVARY	47484362	47484581	47484368	47484368	Missense_Mutation	G	T	p.A39D
BICR18_UPPER_AERODIGESTIVE_TRACT	47484362	47484581	47484381	47484381	Missense_Mutation	A	G	p.F35L
FTC133_THYROID	47484362	47484581	47484414	47484414	Missense_Mutation	A	G	p.S24P
HEC6_ENDOMETRIUM	47456588	47456670	47456597	47456597	Nonsense_Mutation	G	A	p.Q1044*
PC9_LUNG	47456588	47456670	47456669	47456669	Splice_Site	T	C	p.I1020V

Top

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

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

Top

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

Top

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

Top

RelatedDrugs for SCAP

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

Top

RelatedDiseases for SCAP

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
SCAP	C2239176	Liver carcinoma	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

Home

Download

Statistics

Landscape

Help

Contact