ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact
Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for CYP4B1

check button Gene summary
Gene informationGene symbol

CYP4B1

Gene ID

1580

Gene namecytochrome P450 family 4 subfamily B member 1
SynonymsCYPIVB1|P-450HP
Cytomap

1p33

Type of geneprotein-coding
Descriptioncytochrome P450 4B1cytochrome P450, family 4, subfamily B, polypeptide 1cytochrome P450, subfamily IVB, polypeptide 1cytochrome P450-HPmicrosomal monooxygenase
Modification date20180522
UniProtAcc

P13584

ContextPubMed: CYP4B1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

Top

Exon skipping events across known transcript of Ensembl for CYP4B1 from UCSC genome browser

check buttonSkipped 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.
all structure

Top

Gene isoform structures and expression levels for CYP4B1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


Top

Exon skipping events with PSIs in TCGA for CYP4B1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_6211147233196:47233316:47237703:47237743:47276479:4727652247237703:47237743ENSG00000142973.8ENST00000546128.1
exon_skip_6213147264753:47264933:47276479:47276621:47278167:4727829547276479:47276621ENSG00000142973.8ENST00000371919.4
exon_skip_6216147264753:47264933:47278167:47278295:47279153:4727927847278167:47278295ENSG00000142973.8ENST00000534708.2
exon_skip_6222147276479:47276621:47276811:47276856:47278167:4727829547276811:47276856ENSG00000142973.8ENST00000371923.4,ENST00000526297.1,ENST00000271153.4,ENST00000464439.2
exon_skip_6224147276479:47276621:47277848:47278020:47278167:4727829547277848:47278020ENSG00000142973.8ENST00000529715.1
exon_skip_6228147276811:47276856:47278167:47278295:47279153:4727927847278167:47278295ENSG00000142973.8ENST00000371923.4,ENST00000526297.1,ENST00000271153.4,ENST00000464439.2,ENST00000468637.3,ENST00000452782.2
exon_skip_6239147278167:47278295:47279153:47279278:47279580:4727966047279153:47279278ENSG00000142973.8ENST00000371923.4,ENST00000371919.4,ENST00000526297.1,ENST00000452782.2
exon_skip_6240147278167:47278295:47279153:47279278:47279583:4727973547279153:47279278ENSG00000142973.8ENST00000271153.4,ENST00000529715.1,ENST00000468637.3,ENST00000534708.2
exon_skip_6242147278167:47278295:47279153:47279278:47279653:4727973547279153:47279278ENSG00000142973.8ENST00000464439.2
exon_skip_6249147279153:47279278:47279580:47279735:47279880:4727998747279580:47279735ENSG00000142973.8ENST00000371923.4,ENST00000371919.4,ENST00000452782.2
exon_skip_6250147279153:47279278:47279583:47279735:47279880:4727998747279583:47279735ENSG00000142973.8ENST00000271153.4,ENST00000529715.1,ENST00000468637.3,ENST00000534708.2
exon_skip_6253147279153:47279278:47279653:47279735:47279880:4727998747279653:47279735ENSG00000142973.8ENST00000464439.2
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENSG00000142973.8ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2
exon_skip_6261147283673:47283701:47283802:47283885:47284302:4728434247283802:47283885ENSG00000142973.8ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2

check button PSI values of skipped exons in TCGA.
psi tcga

Top

Exon skipping events with PSIs in GTEx for CYP4B1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_6211147233196:47233316:47237703:47237743:47276479:4727652247237703:47237743ENSG00000142973.8ENST00000546128.1
exon_skip_6213147264753:47264933:47276479:47276621:47278167:4727829547276479:47276621ENSG00000142973.8ENST00000371919.4
exon_skip_6216147264753:47264933:47278167:47278295:47279153:4727927847278167:47278295ENSG00000142973.8ENST00000534708.2
exon_skip_6222147276479:47276621:47276811:47276856:47278167:4727829547276811:47276856ENSG00000142973.8ENST00000371923.4,ENST00000271153.4,ENST00000464439.2,ENST00000526297.1
exon_skip_6224147276479:47276621:47277848:47278020:47278167:4727829547277848:47278020ENSG00000142973.8ENST00000529715.1
exon_skip_6228147276811:47276856:47278167:47278295:47279153:4727927847278167:47278295ENSG00000142973.8ENST00000371923.4,ENST00000271153.4,ENST00000464439.2,ENST00000526297.1,ENST00000452782.2,ENST00000468637.3
exon_skip_6239147278167:47278295:47279153:47279278:47279580:4727966047279153:47279278ENSG00000142973.8ENST00000371923.4,ENST00000371919.4,ENST00000526297.1,ENST00000452782.2
exon_skip_6240147278167:47278295:47279153:47279278:47279583:4727973547279153:47279278ENSG00000142973.8ENST00000534708.2,ENST00000271153.4,ENST00000529715.1,ENST00000468637.3
exon_skip_6242147278167:47278295:47279153:47279278:47279653:4727973547279153:47279278ENSG00000142973.8ENST00000464439.2
exon_skip_6249147279153:47279278:47279580:47279735:47279880:4727998747279580:47279735ENSG00000142973.8ENST00000371923.4,ENST00000371919.4,ENST00000452782.2
exon_skip_6250147279153:47279278:47279583:47279735:47279880:4727998747279583:47279735ENSG00000142973.8ENST00000534708.2,ENST00000271153.4,ENST00000529715.1,ENST00000468637.3
exon_skip_6253147279153:47279278:47279653:47279735:47279880:4727998747279653:47279735ENSG00000142973.8ENST00000464439.2
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENSG00000142973.8ENST00000534708.2,ENST00000371923.4,ENST00000271153.4,ENST00000464439.2,ENST00000371919.4,ENST00000452782.2
exon_skip_6261147283673:47283701:47283802:47283885:47284302:4728434247283802:47283885ENSG00000142973.8ENST00000534708.2,ENST00000371923.4,ENST00000271153.4,ENST00000464439.2,ENST00000371919.4,ENST00000452782.2

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for CYP4B1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002711534727816747278295Frame-shift
ENST000002711534727915347279278Frame-shift
ENST000002711534727958347279735Frame-shift
ENST000002711534728271947282853Frame-shift
ENST000002711534728380247283885Frame-shift
ENST000002711534727681147276856In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002711534727816747278295Frame-shift
ENST000002711534727915347279278Frame-shift
ENST000002711534727958347279735Frame-shift
ENST000002711534728271947282853Frame-shift
ENST000002711534728380247283885Frame-shift
ENST000002711534727681147276856In-frame

Top

Infer the effects of exon skipping event on protein functional features for CYP4B1

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000027115321885114727681147276856359403107122

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000027115321885114727681147276856359403107122

check button 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 featureDescription of feature
P135841071221511ChainID=PRO_0000051819;Note=Cytochrome P450 4B1
P13584107122111111Natural variantID=VAR_055377;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs45559437


check button 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 featureDescription of feature
P135841071221511ChainID=PRO_0000051819;Note=Cytochrome P450 4B1
P13584107122111111Natural variantID=VAR_055377;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs45559437


Top

SNVs in the skipped exons for CYP4B1

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_6216
exon_skip_6228
47278168472782954727819047278190Frame_Shift_DelG-p.E130fs
LIHCTCGA-DD-A39Y-01exon_skip_6242
exon_skip_6240
exon_skip_6239
47279154472792784727919047279190Frame_Shift_DelT-p.F178fs
HNSCTCGA-BB-4217-01exon_skip_6261
47283803472838854728381147283812Frame_Shift_DelCT-p.DS426fs
BLCATCGA-ZF-A9R1-01exon_skip_6213
47276480472766214727649047276491Frame_Shift_Ins-Gp.TG64fs
SKCMTCGA-D3-A1Q5-06exon_skip_6222
47276812472768564727685147276851Nonsense_MutationGAp.W121*
SKCMTCGA-D3-A1Q5-06exon_skip_6222
47276812472768564727685147276851Nonsense_MutationGAp.W121X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HCC33_LUNG47283803472838854728387847283879Frame_Shift_DelGG-p.G449fs
MEWO_SKIN47276480472766214727648647276486Missense_MutationGAp.E63K
OVK18_OVARY47276480472766214727649047276490Missense_MutationCAp.T64K
BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE47276480472766214727649047276490Missense_MutationCTp.T64M
GCT_SOFT_TISSUE47276480472766214727649047276490Missense_MutationCTp.T64M
LN18_CENTRAL_NERVOUS_SYSTEM47276480472766214727653047276530Missense_MutationCAp.F77L
HT115_LARGE_INTESTINE47276480472766214727659247276592Missense_MutationACp.D98A
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE47276480472766214727661647276616Missense_MutationGAp.R106H
VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE47276812472768564727683847276838Missense_MutationTGp.F117V
NCIH1436_LUNG47276812472768564727685347276853Missense_MutationACp.I122L
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE47278168472782954727820247278202Missense_MutationGTp.W134C
HUO9_BONE47278168472782954727820247278202Missense_MutationGTp.W134C
JHUEM7_ENDOMETRIUM47278168472782954727822147278221Missense_MutationCTp.L141F
BB49EBV_MATCHED_NORMAL_TISSUE47278168472782954727828447278284Missense_MutationCAp.R162S
BB49HNC_UPPER_AERODIGESTIVE_TRACT47278168472782954727828447278284Missense_MutationCAp.R162S
HS936T_SKIN47279154472792784727918147279181Missense_MutationGAp.G175S
D263MG_CENTRAL_NERVOUS_SYSTEM47279154472792784727924347279243Missense_MutationCGp.C195W
PA1_OVARY47279581472797354727959347279593Missense_MutationCAp.S210R
PA1_OVARY47279584472797354727959347279593Missense_MutationCAp.S210R
NB1_AUTONOMIC_GANGLIA47279581472797354727971247279712Missense_MutationGTp.C250F
NB1_AUTONOMIC_GANGLIA47279584472797354727971247279712Missense_MutationGTp.C250F
NB1_AUTONOMIC_GANGLIA47279654472797354727971247279712Missense_MutationGTp.C250F
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM47282720472828534728276547282765Missense_MutationGCp.E372D
HEC251_ENDOMETRIUM47282720472828534728281447282814Missense_MutationAGp.K389E
SNU1040_LARGE_INTESTINE47282720472828534728282147282821Missense_MutationTCp.V391A
639V_URINARY_TRACT47282720472828534728284147282841Missense_MutationTCp.S398P
2313287_STOMACH47283803472838854728381647283816Missense_MutationTCp.L428P
PECAPJ49_UPPER_AERODIGESTIVE_TRACT47283803472838854728385147283851Missense_MutationCTp.P440S
LN18_CENTRAL_NERVOUS_SYSTEM47279581472797354727959647279596Nonsense_MutationCAp.Y211*
LN18_CENTRAL_NERVOUS_SYSTEM47279584472797354727959647279596Nonsense_MutationCAp.Y211*
NCIH2405_LUNG47279581472797354727963347279633Nonsense_MutationCTp.Q224*
NCIH2405_LUNG47279584472797354727963347279633Nonsense_MutationCTp.Q224*
WM793_SKIN47282720472828534728272047282720Splice_SiteGAp.W357*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP4B1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2BLCArs2297809chr1:47282772C/T8.55e-08
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2BLCArs2297809chr1:47282772C/T5.73e-05
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2BRCArs2297809chr1:47282772C/T1.93e-06
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2BRCArs2297809chr1:47282772C/T3.16e-03
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2LUADrs2297809chr1:47282772C/T3.15e-10
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2LUADrs2297809chr1:47282772C/T4.60e-09
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2LUSCrs2297809chr1:47282772C/T7.66e-06
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2PRADrs2297809chr1:47282772C/T3.84e-12
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2PRADrs2297809chr1:47282772C/T1.97e-07
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2THCArs2297809chr1:47282772C/T2.31e-13
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2THCArs2297809chr1:47282772C/T3.64e-12
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2THCArs2297809chr1:47282772C/T2.28e-05
exon_skip_6254147280745:47280936:47282719:47282853:47283636:4728370147282719:47282853ENST00000371923.4,ENST00000371919.4,ENST00000271153.4,ENST00000464439.2,ENST00000452782.2,ENST00000534708.2THCArs2297809chr1:47282772C/T2.01e-03

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP4B1


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP4B1


Top

RelatedDrugs for CYP4B1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for CYP4B1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
CYP4B1C0005695Bladder Neoplasm1CTD_human