ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CYP11B1

Gene summary

Gene information	Gene symbol	CYP11B1
	Gene ID	1584
	Gene name	cytochrome P450 family 11 subfamily B member 1
	Synonyms	CPN1\|CYP11B\|FHI\|P450C11
	Cytomap	8q24.3
	Type of gene	protein-coding
	Description	cytochrome P450 11B1, mitochondrialCYPXIB1cytochrome P-450c11cytochrome P450, family 11, subfamily B, polypeptide 1cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1cytochrome P450C11cytochrome p450 XIB1steroid 11-beta-hydr
	Modification date	20180523
	UniProtAcc	P15538
	Context	PubMed: CYP11B1 [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
CYP11B1	GO:0006700	C21-steroid hormone biosynthetic process	2256920
CYP11B1	GO:0032342	aldosterone biosynthetic process	2256920
CYP11B1	GO:0034651	cortisol biosynthetic process	8506298

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Exon skipping events across known transcript of Ensembl for CYP11B1 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 CYP11B1

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 CYP11B1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_493178	8	143955884:143955902:143956372:143956570:143956649:143956728	143956372:143956570	ENSG00000160882.7	ENST00000519285.1,ENST00000377675.3,ENST00000292427.4
exon_skip_493182	8	143956372:143956570:143956649:143956728:143957127:143957213	143956649:143956728	ENSG00000160882.7	ENST00000377675.3,ENST00000292427.4
exon_skip_493186	8	143956372:143956570:143956649:143956797:143957127:143957213	143956649:143956797	ENSG00000160882.7	ENST00000519285.1
exon_skip_493208	8	143957127:143957294:143957656:143957811:143958097:143958301	143957656:143957811	ENSG00000160882.7	ENST00000517471.1,ENST00000377675.3,ENST00000292427.4
exon_skip_493212	8	143958438:143958638:143959172:143959250:143960447:143960603	143959172:143959250	ENSG00000160882.7	ENST00000377675.3
exon_skip_493214	8	143958438:143958638:143960447:143960603:143960990:143961236	143960447:143960603	ENSG00000160882.7	ENST00000517471.1,ENST00000292427.4
exon_skip_493220	8	143960447:143960603:143960761:143960896:143960990:143961236	143960761:143960896	ENSG00000160882.7	ENST00000377675.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CYP11B1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_493178	8	143955884:143955902:143956372:143956570:143956649:143956728	143956372:143956570	ENSG00000160882.7	ENST00000519285.1,ENST00000292427.4,ENST00000377675.3
exon_skip_493182	8	143956372:143956570:143956649:143956728:143957127:143957213	143956649:143956728	ENSG00000160882.7	ENST00000292427.4,ENST00000377675.3
exon_skip_493186	8	143956372:143956570:143956649:143956797:143957127:143957213	143956649:143956797	ENSG00000160882.7	ENST00000519285.1
exon_skip_493208	8	143957127:143957294:143957656:143957811:143958097:143958301	143957656:143957811	ENSG00000160882.7	ENST00000292427.4,ENST00000517471.1,ENST00000377675.3
exon_skip_493212	8	143958438:143958638:143959172:143959250:143960447:143960603	143959172:143959250	ENSG00000160882.7	ENST00000377675.3
exon_skip_493214	8	143958438:143958638:143960447:143960603:143960990:143961236	143960447:143960603	ENSG00000160882.7	ENST00000292427.4,ENST00000517471.1
exon_skip_493220	8	143960447:143960603:143960761:143960896:143960990:143961236	143960761:143960896	ENSG00000160882.7	ENST00000377675.3

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 CYP11B1

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
ENST00000292427	143956649	143956728	Frame-shift
ENST00000292427	143957656	143957811	Frame-shift
ENST00000292427	143956372	143956570	In-frame
ENST00000292427	143960447	143960603	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
ENST00000292427	143956649	143956728	Frame-shift
ENST00000292427	143957656	143957811	Frame-shift
ENST00000292427	143956372	143956570	In-frame
ENST00000292427	143960447	143960603	In-frame

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Infer the effects of exon skipping event on protein functional features for CYP11B1

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
ENST00000292427	2681	503	143960447	143960603	273	428	80	131
ENST00000292427	2681	503	143956372	143956570	1234	1431	400	466

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
ENST00000292427	2681	503	143960447	143960603	273	428	80	131
ENST00000292427	2681	503	143956372	143956570	1234	1431	400	466

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
P15538	80	131	25	503	Chain	ID=PRO_0000003596;Note=Cytochrome P450 11B1%2C mitochondrial
P15538	80	131	83	83	Natural variant	ID=VAR_074495;Note=In AH4%3B highly decreases steroid 11-beta-hydroxylase activity. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	80	131	88	88	Natural variant	ID=VAR_074496;Note=In AH4%3B slightly decreases steroid 11-beta-hydroxylase activity. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs193922539,PMID:20089618
P15538	80	131	94	94	Natural variant	ID=VAR_065666;Note=In AH4%3B almost abolishes steroid 11-beta-hydroxylase activity. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16046588,ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs104894070,PMID:16046588,PMID:20089618
P15538	80	131	116	116	Natural variant	ID=VAR_074497;Note=In AH4%3B almost abolishes steroid 11-beta-hydroxylase activity. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs772003869,PMID:20089618
P15538	80	131	116	116	Natural variant	ID=VAR_074498;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs772733691,PMID:20089618
P15538	80	131	125	125	Natural variant	ID=VAR_074499;Note=In AH4%3B slightly decreases steroid 11-beta-hydroxylase activity. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs757389720,PMID:20089618
P15538	80	131	129	129	Natural variant	ID=VAR_074500;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	400	466	401	466	Alternative sequence	ID=VSP_043308;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P15538	400	466	25	503	Chain	ID=PRO_0000003596;Note=Cytochrome P450 11B1%2C mitochondrial
P15538	400	466	450	450	Metal binding	Note=Iron (heme axial ligand);Ontology_term=ECO:0000250;evidence=ECO:0000250
P15538	400	466	401	401	Natural variant	ID=VAR_074526;Note=In AH4%3B decreases steroid 11-beta-hydroxylase activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs201300785,PMID:20089618
P15538	400	466	404	404	Natural variant	ID=VAR_048463;Note=R->H;Dbxref=dbSNP:rs4998896
P15538	400	466	427	427	Natural variant	ID=VAR_074527;Note=In AH4. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs754432887,PMID:20089618
P15538	400	466	438	438	Natural variant	ID=VAR_074528;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	400	466	439	439	Natural variant	ID=VAR_014642;Note=Y->H;Dbxref=dbSNP:rs5294
P15538	400	466	441	441	Natural variant	ID=VAR_074529;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs772169059,PMID:20089618
P15538	400	466	444	444	Natural variant	ID=VAR_074530;Note=In AH4. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs779103938,PMID:20089618
P15538	400	466	448	448	Natural variant	ID=VAR_074531;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	400	466	448	448	Natural variant	ID=VAR_001265;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16046588,ECO:0000269\|PubMed:20089618,ECO:0000269\|PubMed:2022736,ECO:000
P15538	400	466	453	453	Natural variant	ID=VAR_074532;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	400	466	454	454	Natural variant	ID=VAR_065197;Note=In AH4. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20947076;Dbxref=PMID:20947076
P15538	400	466	463	463	Natural variant	ID=VAR_074533;Note=In AH4%3B classic%3B abolishes steroid 11-beta-hydroxylase activity. L->LL;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24536089;Dbxref=PMID:24536089

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
P15538	80	131	25	503	Chain	ID=PRO_0000003596;Note=Cytochrome P450 11B1%2C mitochondrial
P15538	80	131	83	83	Natural variant	ID=VAR_074495;Note=In AH4%3B highly decreases steroid 11-beta-hydroxylase activity. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	80	131	88	88	Natural variant	ID=VAR_074496;Note=In AH4%3B slightly decreases steroid 11-beta-hydroxylase activity. M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs193922539,PMID:20089618
P15538	80	131	94	94	Natural variant	ID=VAR_065666;Note=In AH4%3B almost abolishes steroid 11-beta-hydroxylase activity. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16046588,ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs104894070,PMID:16046588,PMID:20089618
P15538	80	131	116	116	Natural variant	ID=VAR_074497;Note=In AH4%3B almost abolishes steroid 11-beta-hydroxylase activity. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs772003869,PMID:20089618
P15538	80	131	116	116	Natural variant	ID=VAR_074498;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs772733691,PMID:20089618
P15538	80	131	125	125	Natural variant	ID=VAR_074499;Note=In AH4%3B slightly decreases steroid 11-beta-hydroxylase activity. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs757389720,PMID:20089618
P15538	80	131	129	129	Natural variant	ID=VAR_074500;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	400	466	401	466	Alternative sequence	ID=VSP_043308;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P15538	400	466	25	503	Chain	ID=PRO_0000003596;Note=Cytochrome P450 11B1%2C mitochondrial
P15538	400	466	450	450	Metal binding	Note=Iron (heme axial ligand);Ontology_term=ECO:0000250;evidence=ECO:0000250
P15538	400	466	401	401	Natural variant	ID=VAR_074526;Note=In AH4%3B decreases steroid 11-beta-hydroxylase activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs201300785,PMID:20089618
P15538	400	466	404	404	Natural variant	ID=VAR_048463;Note=R->H;Dbxref=dbSNP:rs4998896
P15538	400	466	427	427	Natural variant	ID=VAR_074527;Note=In AH4. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs754432887,PMID:20089618
P15538	400	466	438	438	Natural variant	ID=VAR_074528;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	400	466	439	439	Natural variant	ID=VAR_014642;Note=Y->H;Dbxref=dbSNP:rs5294
P15538	400	466	441	441	Natural variant	ID=VAR_074529;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. V->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs772169059,PMID:20089618
P15538	400	466	444	444	Natural variant	ID=VAR_074530;Note=In AH4. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=dbSNP:rs779103938,PMID:20089618
P15538	400	466	448	448	Natural variant	ID=VAR_074531;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	400	466	448	448	Natural variant	ID=VAR_001265;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:16046588,ECO:0000269\|PubMed:20089618,ECO:0000269\|PubMed:2022736,ECO:000
P15538	400	466	453	453	Natural variant	ID=VAR_074532;Note=In AH4%3B abolishes steroid 11-beta-hydroxylase activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20089618;Dbxref=PMID:20089618
P15538	400	466	454	454	Natural variant	ID=VAR_065197;Note=In AH4. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20947076;Dbxref=PMID:20947076
P15538	400	466	463	463	Natural variant	ID=VAR_074533;Note=In AH4%3B classic%3B abolishes steroid 11-beta-hydroxylase activity. L->LL;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:24536089;Dbxref=PMID:24536089

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SNVs in the skipped exons for CYP11B1

- 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.

- 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_493178	143956373	143956570	143956473	143956473	Frame_Shift_Del	C	-	p.G433fs
COAD	TCGA-D5-5538-01	exon_skip_493178	143956373	143956570	143956495	143956495	Frame_Shift_Del	G	-	p.Q426fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_493178	143956373	143956570	143956495	143956495	Frame_Shift_Del	G	-	p.Q426fs
LIHC	TCGA-DD-A39Y-01	exon_skip_493220	143960762	143960896	143960864	143960864	Frame_Shift_Del	C	-	p.G91fs
LUAD	TCGA-05-4382-01	exon_skip_493178	143956373	143956570	143956441	143956442	Frame_Shift_Ins	-	T	p.F443fs
LUAD	TCGA-05-4382-01	exon_skip_493178	143956373	143956570	143956441	143956442	Frame_Shift_Ins	-	T	p.L444fs
HNSC	TCGA-CV-A6JD-01	exon_skip_493220	143960762	143960896	143960853	143960854	Frame_Shift_Ins	-	TGCA	p.T95fs
LUAD	TCGA-55-8207-01	exon_skip_493208	143957657	143957811	143957737	143957737	Nonsense_Mutation	C	A	p.E292*
READ	TCGA-AG-A011-01	exon_skip_493208	143957657	143957811	143957761	143957761	Nonsense_Mutation	G	A	p.Q284X
SKCM	TCGA-GN-A8LK-06	exon_skip_493208	143957657	143957811	143957797	143957797	Nonsense_Mutation	G	A	p.Q272*
READ	TCGA-F5-6814-01	exon_skip_493178	143956373	143956570	143956571	143956571	Splice_Site	C	A	.
KIRP	TCGA-J7-6720-01	exon_skip_493182	143956650	143956728	143956729	143956729	Splice_Site	C	G	.
KIRP	TCGA-J7-6720-01	exon_skip_493182	143956650	143956728	143956729	143956729	Splice_Site	C	G	p.R445_splice

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

Depth of coverage in three exons

Mutation description

- 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
NCIH1876_LUNG	143956373	143956570	143956378	143956378	Missense_Mutation	G	T	p.H465N
HT115_LARGE_INTESTINE	143956373	143956570	143956507	143956507	Missense_Mutation	G	A	p.R422C
CALU3_LUNG	143956373	143956570	143956521	143956521	Missense_Mutation	A	T	p.F417Y
JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	143956373	143956570	143956531	143956532	Missense_Mutation	GG	CA	p.P414A
RKO_LARGE_INTESTINE	143956373	143956570	143956546	143956546	Missense_Mutation	A	T	p.S409T
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	143956373	143956570	143956558	143956558	Missense_Mutation	C	T	p.V405M
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	143956373	143956570	143956561	143956561	Missense_Mutation	G	A	p.R404C
SNU46_UPPER_AERODIGESTIVE_TRACT	143956650	143956728	143956684	143956684	Missense_Mutation	T	A	p.D389V
SNU46_UPPER_AERODIGESTIVE_TRACT	143956650	143956797	143956684	143956684	Missense_Mutation	T	A	p.D389V
KM12_LARGE_INTESTINE	143956650	143956728	143956690	143956690	Missense_Mutation	C	T	p.S387N
KM12_LARGE_INTESTINE	143956650	143956797	143956690	143956690	Missense_Mutation	C	T	p.S387N
ME180_CERVIX	143957657	143957811	143957721	143957721	Missense_Mutation	G	A	p.A297V
LOVO_LARGE_INTESTINE	143957657	143957811	143957739	143957739	Missense_Mutation	G	A	p.A291V
HEC265_ENDOMETRIUM	143957657	143957811	143957742	143957742	Missense_Mutation	A	G	p.V290A
CORL279_LUNG	143957657	143957811	143957766	143957766	Missense_Mutation	C	T	p.R282H
KOSC2_UPPER_AERODIGESTIVE_TRACT	143957657	143957811	143957804	143957804	Missense_Mutation	G	C	p.N269K
SNU1040_LARGE_INTESTINE	143960448	143960603	143960475	143960475	Missense_Mutation	C	T	p.R123H
NCIH2227_LUNG	143960448	143960603	143960533	143960533	Missense_Mutation	C	A	p.D104Y
MS1_SKIN	143960448	143960603	143960535	143960535	Missense_Mutation	A	G	p.V103A
MS1_LUNG	143960448	143960603	143960535	143960535	Missense_Mutation	A	G	p.V103A
NCIH2141_LUNG	143960448	143960603	143960568	143960568	Missense_Mutation	A	G	p.M92T
HCC1500_BREAST	143956650	143956728	143956727	143956727	Splice_Site	G	A	p.L375F
HCC1500_BREAST	143956650	143956797	143956727	143956727	Splice_Site	G	A	p.L375F

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP11B1

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 CYP11B1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP11B1

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RelatedDrugs for CYP11B1

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
	P15538	DB00648	Mitotane	Cytochrome P450 11B1, mitochondrial	small molecule	approved
	P15538	DB01011	Metyrapone	Cytochrome P450 11B1, mitochondrial	small molecule	approved\|investigational

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RelatedDiseases for CYP11B1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
CYP11B1	C0268292	Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency	8	CTD_human;ORPHANET;UNIPROT
CYP11B1	C0020428	Hyperaldosteronism	1	CTD_human;HPO

	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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