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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: CYP1B1 (NCBI Gene ID:1545)

Gene Summary

Gene Summary

Gene Information	Gene Name: CYP1B1
	Gene ID: 1545
	Gene Symbol	CYP1B1
	Gene ID	1545
	Gene Name	cytochrome P450 family 1 subfamily B member 1
	Synonyms	ASGD6\|CP1B\|CYPIB1\|GLC3A\|P4501B1
	Cytomap	2p22.2
	Type of Gene	protein-coding
	Description	cytochrome P450 1B1aryl hydrocarbon hydroxylasecytochrome P450, family 1, subfamily B, polypeptide 1cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)dioxin-inducible cytochrome p450flavoprotein-linked mono
	Modification date	20200322
	UniProtAcc	Q16678

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0006417	Regulation of translation
GO:0045727	Positive regulation of translation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	CYP1B1	GO:0006805	xenobiotic metabolic process	22888116
Hgene	CYP1B1	GO:0008202	steroid metabolic process	22888116
Hgene	CYP1B1	GO:0008210	estrogen metabolic process	11555828\|12865317\|23821647
Hgene	CYP1B1	GO:0019369	arachidonic acid metabolic process	15258110
Hgene	CYP1B1	GO:0042572	retinol metabolic process	10681376\|15258110
Hgene	CYP1B1	GO:0042574	retinal metabolic process	15258110
Hgene	CYP1B1	GO:0071407	cellular response to organic cyclic compound	23275542

Inferred gene age of translation factor.

Gene	Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
CYP1B1	(355.7 - 733]

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Translation Studies in PubMed

We searched PubMed using 'CYP1B1[title] AND translation [title] AND human.'

Gene	Title	PMID
CYP1B1	.	.

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Exon Skipping Events

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.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

ORF

Exon skipping position in the amino acid sequence.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

Len(transcript seq)

Exon skip start (mRNA)

Exon Skip end (mRNA)

Len(amino acid seq)

Exon skip start (AA)

Exon Skip end (AA)

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc

Exon skip start (AA)

Exon Skip end (AA)

Function feature start (AA)

Function feature end (AA)

Functional feature type

Functional feature desc.

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
KIRP	CYP1B1	-1.55548102987307	0.000837184488773346
STAD	CYP1B1	-3.8466304601471	0.0124990218318999
BLCA	CYP1B1	-2.6964325695621	0.0204124450683594
KIRC	CYP1B1	-1.96137430050028	7.97099448083997e-11

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type	Gene	miRNA	TargetScan binding score (Context++ score percentile)	Coefficient	Pvalue
DLBC	CYP1B1	hsa-miR-27b-3p	89	-0.376387604070305	0.0095073741356388
KIRC	CYP1B1	hsa-miR-200b-3p	83	-0.321007789678676	0.00407618037906953
KIRC	CYP1B1	hsa-miR-429	81	-0.324026290165531	0.0037269078230644
TGCT	CYP1B1	hsa-miR-200b-3p	83	-0.322541382667965	0.00389523298198791
UCEC	CYP1B1	hsa-miR-200b-3p	83	0.354927425515661	0.0400789146112682
UCEC	CYP1B1	hsa-miR-429	81	0.346065699006876	0.0456027031558158

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type	Gene	methyl group b	methyl group a	DEG pval	avg methyl in b	avg methyl in a	avg exp in b	avg exp in a
STAD	CYP1B1	3	2	0.0399699522810165	0.655242162162162	0.368481711711712	-0.445703464689975	-0.208740607547119

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type	Gene	methyl group b	methyl group a	DEG pval	avg methyl in b	avg methyl in a	avg exp in b	avg exp in a
HNSC	CYP1B1	2	1	0.00291008269234973	0.396655926605505	0.150905185185185	-0.213272695772971	-0.576308740625344

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
BLCA	CYP1B1	-0.012503539	0.002195921
ESCA	CYP1B1	-0.022798711	0.016600346

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with CYP1B1 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
COAD	TF	CYP1B1	MEOX2	0.803657546	1.07E-75
PAAD	Cell metabolism gene	CYP1B1	OMD	0.800776284	3.78E-42
PAAD	Cell metabolism gene	CYP1B1	GLIPR1	0.802999185	1.53E-42
PAAD	Cell metabolism gene	CYP1B1	PDE1A	0.820233227	8.91E-46
PAAD	Cell metabolism gene	CYP1B1	HSD11B1	0.828150508	2.22E-47
PAAD	CGC	CYP1B1	OMD	0.800776284	3.78E-42
PAAD	CGC	CYP1B1	PTPRC	0.804458895	8.36E-43
PAAD	CGC	CYP1B1	SFRP4	0.806570135	3.47E-43
PAAD	IUPHAR	CYP1B1	IL1R1	0.800604753	4.05E-42
PAAD	IUPHAR	CYP1B1	PTPRC	0.804458895	8.36E-43
PAAD	IUPHAR	CYP1B1	PDE1A	0.820233227	8.91E-46
PAAD	IUPHAR	CYP1B1	HSD11B1	0.828150508	2.22E-47
PAAD	IUPHAR	CYP1B1	ADAMTS3	0.832326113	2.93E-48
PAAD	TF	CYP1B1	ZEB2	0.812455577	2.82E-44
PAAD	TSG	CYP1B1	GLIPR1	0.802999185	1.53E-42
PAAD	TSG	CYP1B1	PTPRC	0.804458895	8.36E-43
PAAD	TSG	CYP1B1	SLIT2	0.805269445	5.97E-43
PAAD	TSG	CYP1B1	SFRP4	0.806570135	3.47E-43
PAAD	TSG	CYP1B1	RASSF2	0.807733375	2.13E-43
PAAD	TSG	CYP1B1	IGF1	0.823362068	2.12E-46
READ	Cell metabolism gene	CYP1B1	FMO2	0.849089853	2.61E-30
READ	IUPHAR	CYP1B1	NRP1	0.804234801	5.13E-25
READ	TSG	CYP1B1	GAS1	0.819876025	1.08E-26
READ	TSG	CYP1B1	SLIT2	0.828518527	1.08E-27
STAD	Cell metabolism gene	CYP1B1	PRELP	0.810567003	3.69E-106
STAD	Cell metabolism gene	CYP1B1	CDO1	0.812647315	4.01E-107
STAD	TF	CYP1B1	ZFPM2	0.807774858	6.95E-105
STAD	TF	CYP1B1	BNC2	0.814969263	3.26E-108
STAD	TSG	CYP1B1	CDO1	0.812647315	4.01E-107
STAD	TSG	CYP1B1	SLIT2	0.831513278	1.89E-116
THCA	Cell metabolism gene	CYP1B1	PROS1	0.800703239	6.00E-129
THCA	Cell metabolism gene	CYP1B1	PDE5A	0.835485244	2.45E-150
THCA	IUPHAR	CYP1B1	PTPRE	0.828162592	1.94E-145
THCA	IUPHAR	CYP1B1	TACSTD2	0.829357283	3.20E-146
THCA	IUPHAR	CYP1B1	TGFBR1	0.833822981	3.33E-149
THCA	IUPHAR	CYP1B1	PDE5A	0.835485244	2.45E-150
THCA	Kinase	CYP1B1	TGFBR1	0.833822981	3.33E-149
THCA	TF	CYP1B1	RUNX2	0.819819434	3.93E-140
THCA	TSG	CYP1B1	PDLIM4	0.814537223	6.52E-137
THCA	TSG	CYP1B1	RUNX2	0.819819434	3.93E-140
THYM	TF	CYP1B1	ZNF442	0.81221963	7.27E-30
THYM	TF	CYP1B1	NFAT5	0.828608661	5.11E-32
THYM	TSG	CYP1B1	KANK1	0.807799496	2.55E-29
THYM	TSG	CYP1B1	ARHGAP29	0.810322286	1.25E-29
THYM	TSG	CYP1B1	RASSF8	0.814233613	4.06E-30
UCS	TF	CYP1B1	ZNF442	0.81221963	7.27E-30
UCS	TF	CYP1B1	NFAT5	0.828608661	5.11E-32
UCS	TSG	CYP1B1	KANK1	0.807799496	2.55E-29
UCS	TSG	CYP1B1	ARHGAP29	0.810322286	1.25E-29
UCS	TSG	CYP1B1	RASSF8	0.814233613	4.06E-30
UVM	Cell metabolism gene	CYP1B1	DCN	0.824864061	5.19E-21
UVM	TSG	CYP1B1	DCN	0.824864061	5.19E-21

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
KIRC	CYP1B1	EPHX1	1.96154502013138	0.00018802721127283
KIRC	CYP1B1	COMT	1.47836258495866	0.000487253612480757
LUSC	CYP1B1	HSD17B2	-2.86338898402654	0.000832847220921146
KICH	CYP1B1	HSD17B1	2.68506016391857	0.000911891460418701
CHOL	CYP1B1	SULT2A1	-2.35811871605704	0.00390625
BRCA	CYP1B1	EPHX1	-1.98938005533844	0.00453010411570832
KIRC	CYP1B1	ASMT	-1.11155563685699	0.00516553986497585
CHOL	CYP1B1	SULT1A1	-1.6256523627365	0.0078125
STAD	CYP1B1	SULT2A1	-1.6780818223099	0.00798104073089138
ESCA	CYP1B1	HSD17B2	1.13491380894742	0.009765625
CHOL	CYP1B1	COMT	-1.07372064465474	0.01171875
LUAD	CYP1B1	HSD17B2	-2.22681372104558	0.0135185206396905
ESCA	CYP1B1	HSD17B7	-1.25953425584862	0.0185546875
READ	CYP1B1	COMT	-4.28506130394875	0.03125
READ	CYP1B1	EPHX1	1.81859444665483	0.03125
READ	CYP1B1	HSD17B2	-1.7447195338332	0.03125
ESCA	CYP1B1	AKR1C3	-2.35267665897734	0.0322265625
HNSC	CYP1B1	ASMT	-1.90304221730487	0.0345945777256718
PRAD	CYP1B1	HSD17B2	1.68625362589553	0.03661444152836
CHOL	CYP1B1	HSD17B7	-4.24820046393027	0.0390625
HNSC	CYP1B1	AKR1C3	2.7391866170804	0.0422964299507385
PRAD	CYP1B1	HSD17B7	1.06272482425698	0.04561179270336
LIHC	CYP1B1	COMT	-2.73019242658692	1.10045092764477e-07
KICH	CYP1B1	EPHX1	2.35058894692845	1.49011611938476e-06
COAD	CYP1B1	HSD17B2	-1.07130958669922	1.49011611938477e-07
COAD	CYP1B1	SULT1A1	-8.13251854208452	2.08616256713867e-07
KIRC	CYP1B1	HSD17B1	1.26914500424807	2.17100738110179e-12
COAD	CYP1B1	EPHX1	1.88264050481601	3.27825546264649e-06
KIRC	CYP1B1	HSD17B7	-4.67658908987883	4.4523606197609e-12
COAD	CYP1B1	AKR1C3	-1.75616985556139	5.1647424697876e-05
LUAD	CYP1B1	SULT1A1	-4.42395170180941	5.46188198426923e-11
THCA	CYP1B1	COMT	-1.00078453085988	6.42442896273628e-05
LUAD	CYP1B1	HSD17B1	-1.21056018730534	7.61068774930263e-05

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with CYP1B1

SAE1, HSPB2, ESR2, AHR, ARNT, EP300, HIST1H3A, PGRMC1, ORF7b, E, M, nsp4, ESR1, DDX58,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
CYP1B1	chr2	38294779	A	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38294787	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38294801	T	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38294841	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295105	G	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295205	A	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295268	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295366	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295367	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295456	T	A	single_nucleotide_variant	Benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295494	A	G	single_nucleotide_variant	Likely_benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295516	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295532	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295550	T	TA	Duplication	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295561	T	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295576	C	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295604	T	G	single_nucleotide_variant	Likely_benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295656	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295658	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295707	A	G	single_nucleotide_variant	Likely_benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295714	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295904	C	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295909	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295927	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295955	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295957	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295970	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38295994	G	A	single_nucleotide_variant	Benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296012	C	A	single_nucleotide_variant	Likely_benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296067	A	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296084	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296099	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296119	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296135	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296182	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296254	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296264	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296304	T	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296321	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296374	C	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296405	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296415	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296519	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296596	A	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296691	TG	T	Deletion	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296724	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296786	G	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296790	C	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296803	C	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296809	C	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296837	TC	T	Deletion	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296860	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296884	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296885	T	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296890	T	C	single_nucleotide_variant	Benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296893	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296920	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296939	T	G	single_nucleotide_variant	Likely_benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296948	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296985	CT	C	Deletion	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38296997	A	AC	Duplication	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297001	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297170	C	A	single_nucleotide_variant	Benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297177	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297204	A	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297372	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297399	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297485	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297515	G	T	single_nucleotide_variant	Benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297632	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297654	C	CA	Duplication	Benign	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297747	G	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297750	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297760	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297822	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
CYP1B1	chr2	38297897	G	T	single_nucleotide_variant	Uncertain_significance	Congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38297904	A	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38297907	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38297955	CTTGGGT	C	Deletion	Pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
CYP1B1	chr2	38298023	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298033	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38298037	A	G	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298067	T	TTAGAAAGTTCTTCGCCAATGCACCGCC	Duplication	Uncertain_significance	not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
CYP1B1	chr2	38298071	A	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298085	A	T	single_nucleotide_variant	Uncertain_significance	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298088	C	T	single_nucleotide_variant	not_provided	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298091	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298092	G	A	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298105	T	A	single_nucleotide_variant	Benign	Congenital_glaucoma	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38298135	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38298139	T	C	single_nucleotide_variant	Benign/Likely_benign	Glaucoma_3,_primary_congenital,_A\|Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298150	A	G	single_nucleotide_variant	Benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38298151	TC	T	Deletion	Pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38298152	C	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298153	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38298166	C	T	single_nucleotide_variant	Pathogenic	Anterior_segment_dysgenesis\|Congenital_glaucoma\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298167	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
CYP1B1	chr2	38298169	G	C	single_nucleotide_variant	Benign/Likely_benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298178	A	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298187	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298195	C	T	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001587\|nonsense	SO:0001587\|nonsense
CYP1B1	chr2	38298203	C	.	single_nucleotide_variant	Benign	Congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298203	C	G	single_nucleotide_variant	Benign/Likely_benign	Glaucoma_3,_primary_congenital,_A\|Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|not_specified\|not_provided	SO:0002073\|no_sequence_alteration	SO:0002073\|no_sequence_alteration
CYP1B1	chr2	38298207	G	C	single_nucleotide_variant	Uncertain_significance	Glaucoma_3,_primary_congenital,_A\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298230	T	A	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A\|Glaucoma,_primary_open_angle,_juvenile-onset	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298244	G	A	single_nucleotide_variant	Uncertain_significance	Congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298287	T	TGGTGGCATGA	Duplication	Pathogenic	Irido-corneo-trabecular_dysgenesis\|Glaucoma_of_childhood\|Anterior_segment_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38298295	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298328	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298329	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298338	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Glaucoma_of_childhood\|Primary_congenital_glaucoma\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298377	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298394	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_ocular_coloboma\|Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Myopathy,_centronuclear,_5\|Congenital_glaucoma\|Glaucoma,_early-onset,_digenic\|not_specified\|CYP1B1-Related_Disorders\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298397	T	TC	Duplication	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38298404	C	A	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298408	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38298416	C	A	single_nucleotide_variant	Likely_pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38298419	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38298420	TTCTGCCTGCACTC	T	Deletion	Pathogenic	Glaucoma_3,_primary_congenital,_A\|Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38298421	TCTGCCTGCACTCG	T	Deletion	Pathogenic	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38298450	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38298456	G	C	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001627\|intron_variant	SO:0001627\|intron_variant
CYP1B1	chr2	38298593	G	GA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
CYP1B1	chr2	38301214	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
CYP1B1	chr2	38301483	C	G	single_nucleotide_variant	Uncertain_significance	Congenital_glaucoma	SO:0001627\|intron_variant	SO:0001627\|intron_variant
CYP1B1	chr2	38301547	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301553	TGTCA	T	Deletion	Likely_pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38301574	C	A	single_nucleotide_variant	Uncertain_significance	Glaucoma_3,_primary_congenital,_A\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301614	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38301615	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_glaucoma\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301624	T	G	single_nucleotide_variant	Uncertain_significance	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301663	C	CG	Duplication	Pathogenic	Congenital_ocular_coloboma\|Glaucoma_of_childhood\|CYP1B1-Related_Disorders\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38301682	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301692	G	T	single_nucleotide_variant	Pathogenic	Congenital_glaucoma	SO:0001587\|nonsense	SO:0001587\|nonsense
CYP1B1	chr2	38301701	CA	C	Deletion	Pathogenic	Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
CYP1B1	chr2	38301714	A	C	single_nucleotide_variant	Uncertain_significance	Glaucoma_of_childhood\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301723	T	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301749	G	T	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301769	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301803	C	G	single_nucleotide_variant	Benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38301820	C	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301821	C	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38301831	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301838	C	G	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301847	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity,_other	Congenital_ocular_coloboma\|Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301879	T	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301888	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301888	C	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301904	AAC	A	Microsatellite	not_provided	Glaucoma_3,_primary_congenital,_A	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38301938	G	A	single_nucleotide_variant	Benign/Likely_benign	Congenital_glaucoma\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38301940	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301954	G	A	single_nucleotide_variant	Likely_pathogenic	Primary_congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301968	G	T	single_nucleotide_variant	Benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_of_childhood\|Glaucoma_3,_primary_congenital,_A\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38301971	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38301996	GC	G	Deletion	Pathogenic	Glaucoma_3,_primary_congenital,_A\|Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38302015	C	T	single_nucleotide_variant	Pathogenic	Primary_congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302029	C	T	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302034	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38302034	G	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38302045	G	A	single_nucleotide_variant	not_provided	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302088	GGCTGCGCGCC	G	Deletion	Pathogenic	Glaucoma_3,_primary_congenital,_A\|Anterior_segment_dysgenesis_6	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38302091	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38302093	C	G	single_nucleotide_variant	Uncertain_significance	Congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302101	T	C	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302117	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302151	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38302161	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302165	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302177	C	A	single_nucleotide_variant	Benign	Glaucoma_3,_primary_congenital,_A\|Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302183	G	A	single_nucleotide_variant	Likely_pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302213	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302255	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302291	A	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Congenital_ocular_coloboma\|Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma\|Primary_open_angle_glaucoma\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302293	C	G	single_nucleotide_variant	Uncertain_significance	Congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302299	G	T	single_nucleotide_variant	Uncertain_significance	Congenital_glaucoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302306	G	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302350	C	T	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A\|Glaucoma_3,_primary_infantile,_b\|Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302351	C	T	single_nucleotide_variant	Pathogenic	Anterior_segment_dysgenesis_6	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302357	GT	G	Deletion	Pathogenic	Glaucoma_3,_primary_congenital,_A\|Glaucoma,_primary_open_angle,_juvenile-onset	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
CYP1B1	chr2	38302361	C	T	single_nucleotide_variant	Pathogenic	Irido-corneo-trabecular_dysgenesis\|Anterior_segment_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Glaucoma_3,_primary_infantile,_b\|Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|CYP1B1-Related_Disorders\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
CYP1B1	chr2	38302377	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Glaucoma,_primary_open_angle,_juvenile-onset\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302385	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Congenital_glaucoma	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38302390	G	C	single_nucleotide_variant	Benign	Glaucoma_3,_primary_congenital,_A\|Anterior_segment_dysgenesis_6\|Congenital_glaucoma\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302391	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38302486	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38302487	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38302508	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
CYP1B1	chr2	38302516	T	C	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302524	G	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001583\|missense_variant	SO:0001583\|missense_variant
CYP1B1	chr2	38302530	A	G	single_nucleotide_variant	Pathogenic	Anterior_segment_dysgenesis_6	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
CYP1B1	chr2	38302531	T	C	single_nucleotide_variant	Pathogenic	not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
CYP1B1	chr2	38302542	G	A	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001627\|intron_variant	SO:0001627\|intron_variant
CYP1B1	chr2	38302544	G	A	single_nucleotide_variant	Benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|Anterior_segment_dysgenesis_6\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
CYP1B1	chr2	38302546	G	A	single_nucleotide_variant	Benign/Likely_benign	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
CYP1B1	chr2	38302794	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
CYP1B1	chr2	38302922	C	A	single_nucleotide_variant	Uncertain_significance	CYP1B1-Related_Disorders	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
CYP1B1	chr2	38302923	C	T	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38302935	G	A	single_nucleotide_variant	Benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303001	G	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303005	A	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Glaucoma_3,_primary_congenital,_A	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303017	A	AGG	Duplication	Benign	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303095	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303117	G	C	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303205	G	A	single_nucleotide_variant	Pathogenic	Glaucoma_3,_primary_congenital,_A	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303206	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303258	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303280	C	G	single_nucleotide_variant	Uncertain_significance	Irido-corneo-trabecular_dysgenesis\|Primary_congenital_glaucoma	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
CYP1B1	chr2	38303531	G	A	single_nucleotide_variant	Benign	Congenital_glaucoma

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
CYP1B1	LUAD	chr2	38297933	38297933	G	C	Missense_Mutation	p.L522V	5
CYP1B1	BRCA	chr2	38298053	38298053	G	C	Missense_Mutation	p.L482V	4
CYP1B1	KIRP	chr2	38302357	38302357	G	C	Missense_Mutation	p.L59V	4
CYP1B1	HNSC	chr2	38302533	38302533	C	T	Splice_Site		3
CYP1B1	PAAD	chr2	38298132	38298132	G	A	Silent	p.D455D	3
CYP1B1	PAAD	chr2	38298319	38298319	C	A	Missense_Mutation	p.S393I	3
CYP1B1	COAD	chr2	38298080	38298080	C	T	Missense_Mutation	p.E473K	3
CYP1B1	COAD	chr2	38302374	38302374	C	T	Missense_Mutation	p.G53D	3
CYP1B1	BLCA	chr2	38298398	38298398	C	A	Missense_Mutation	p.D367Y	2
CYP1B1	HNSC	chr2	38301665	38301665	G	A	Silent	p.P289P	2
CYP1B1	COAD	chr2	38298203	38298203	C	G	Missense_Mutation	p.V432L	2
CYP1B1	SKCM	chr2	38298036	38298036	C	T	Silent	p.L487L	2
CYP1B1	BLCA	chr2	38302448	38302448	C	T	Silent	p.S28S	2
CYP1B1	STAD	chr2	38298186	38298186	C	T	Silent	p.P437P	2
CYP1B1	HNSC	chr2	38301497	38301497	G	A	Silent	p.L345L	2
CYP1B1	BLCA	chr2	38301609	38301609	G	A	Missense_Mutation	p.S308L	2
CYP1B1	LIHC	chr2	38301745	38301745	G	A	Nonsense_Mutation	p.Q263*	2
CYP1B1	PAAD	chr2	38298319	38298319	C	A	Missense_Mutation		2
CYP1B1	LIHC	chr2	38298107	38298107	A	-	Frame_Shift_Del	p.S464fs	2
CYP1B1	HNSC	chr2	38298139	38298139	T	C	Missense_Mutation		2
CYP1B1	COAD	chr2	38301839	38301839	G	A	Silent	p.F231F	2
CYP1B1	LUAD	chr2	38301556	38301556	C	T	Missense_Mutation	p.D326N	2
CYP1B1	UCS	chr2	38301893	38301893	G	A	Silent	p.R213R	2
CYP1B1	COAD	chr2	38298077	38298077	C	A	Nonsense_Mutation	p.E474X	2
CYP1B1	SARC	chr2	38297915	38297915	G	T	Missense_Mutation		2
CYP1B1	LUAD	chr2	38301699	38301699	C	A	Missense_Mutation	p.R278M	2
CYP1B1	STAD	chr2	38298092	38298092	G	A	Missense_Mutation	p.R469W	2
CYP1B1	SKCM	chr2	38301646	38301646	A	C	Missense_Mutation	p.F296V	2
CYP1B1	STAD	chr2	38302370	38302370	C	T	Silent	p.P54P	2
CYP1B1	LIHC	chr2	38301721	38301721	A	G	Missense_Mutation		1
CYP1B1	STAD	chr2	38298187	38298187	G	A	Missense_Mutation	p.P437L	1
CYP1B1	ESCA	chr2	38298084	38298084	A	G	Silent	p.I471I	1
CYP1B1	LUSC	chr2	38301667	38301667	G	A	Missense_Mutation	p.P289S	1
CYP1B1	HNSC	chr2	38302190	38302190	G	A	Silent	p.F114F	1
CYP1B1	COAD	chr2	38301663	38301664	-	G	Frame_Shift_Ins	p.R290fs	1
CYP1B1	LIHC	chr2	38301745	38301745	G	A	Nonsense_Mutation	p.Q263X	1
CYP1B1	SKCM	chr2	38298407	38298407	C	T	Missense_Mutation	p.V364M	1
CYP1B1	GBM	chr2	38302345	38302345	C	T	Missense_Mutation	p.A63T	1
CYP1B1	MESO	chr2	38302177	38302177	C	A	Missense_Mutation		1
CYP1B1	BLCA	chr2	38301701	38301701	C	G	Missense_Mutation	p.L277F	1
CYP1B1	COAD	chr2	38301756	38301756	C	T	Missense_Mutation	p.R259H	1
CYP1B1	LIHC	chr2	38301854	38301854	G	C	Missense_Mutation	p.S226R	1
CYP1B1	SKCM	chr2	38301704	38301704	G	A	Silent	p.F276F	1
CYP1B1	STAD	chr2	38302315	38302315	A	G	Missense_Mutation	p.S73P	1
CYP1B1	HNSC	chr2	38298060	38298060	C	A	Missense_Mutation		1
CYP1B1	OV	chr2	38298138	38298138	G	C	Missense_Mutation	p.N453K	1
CYP1B1	HNSC	chr2	38302272	38302272	A	C	Missense_Mutation	p.I87S	1
CYP1B1	COAD	chr2	38301763	38301763	C	T	Missense_Mutation	p.V257I	1
CYP1B1	SKCM	chr2	38301675	38301675	C	T	Missense_Mutation	p.G286E	1
CYP1B1	THCA	chr2	38298150	38298150	A	G	Silent		1
CYP1B1	HNSC	chr2	38301665	38301665	G	A	Silent		1
CYP1B1	PAAD	chr2	38298132	38298132	G	A	Silent		1
CYP1B1	BLCA	chr2	38297913	38297913	G	T	Silent	p.L528L	1
CYP1B1	HNSC	chr2	38297968	38297968	G	A	Missense_Mutation	p.T510I	1
CYP1B1	COAD	chr2	38301778	38301779	-	G	Frame_Shift_Ins	p.N252fs	1
CYP1B1	LIHC	chr2	38298007	38298007	G	-	Frame_Shift_Del	p.P497fs	1
CYP1B1	SKCM	chr2	38298402	38298402	C	T	Silent	p.G365G	1
CYP1B1	UCEC	chr2	38297912	38297912	G	T	Missense_Mutation	p.L529I	1
CYP1B1	HNSC	chr2	38298060	38298060	C	A	Missense_Mutation	p.Q479H	1
CYP1B1	COAD	chr2	38301821	38301821	C	T	Silent	p.A237A	1
CYP1B1	SKCM	chr2	38298380	38298380	C	G	Missense_Mutation	p.G373R	1
CYP1B1	UCEC	chr2	38298023	38298023	C	T	Missense_Mutation	p.D492N	1
CYP1B1	HNSC	chr2	38298106	38298107	-	A	Frame_Shift_Ins	p.S464fs	1
CYP1B1	CESC	chr2	38298203	38298203	C	G	Missense_Mutation		1
CYP1B1	SKCM	chr2	38301835	38301835	G	A	Missense_Mutation	p.R233C	1
CYP1B1	BLCA	chr2	38298398	38298398	C	A	Missense_Mutation		1
CYP1B1	HNSC	chr2	38302373	38302373	G	A	Silent		1
CYP1B1	KIRC	chr2	38297920	38297920	A	G	Missense_Mutation	p.M526T	1
CYP1B1	READ	chr2	38298119	38298119	C	A	Missense_Mutation	p.V460L	1
CYP1B1	COAD	chr2	38302177	38302177	C	A	Missense_Mutation	p.A119S	1
CYP1B1	SKCM	chr2	38297938	38297938	A	G	Missense_Mutation	p.V520A	1
CYP1B1	BLCA	chr2	38302448	38302448	C	T	Silent		1
CYP1B1	HNSC	chr2	38297968	38297968	G	A	Missense_Mutation		1
CYP1B1	LUAD	chr2	38301582	38301582	A	T	Nonsense_Mutation	p.L317*	1
CYP1B1	SKCM	chr2	38301564	38301564	G	A	Missense_Mutation	p.T323I	1
CYP1B1	BLCA	chr2	38301609	38301609	G	A	Missense_Mutation		1
CYP1B1	HNSC	chr2	38298106	38298107	-	-	Frame_Shift_Ins		1
CYP1B1	COAD	chr2	38298139	38298139	T	C	Missense_Mutation	p.N453S	1
CYP1B1	KIRP	chr2	38301968	38301968	G	T	Silent	p.G188G	1
CYP1B1	SARC	chr2	38298169	38298169	G	T	Missense_Mutation		1
CYP1B1	DLBC	chr2	38301803	38301803	C	G	Silent	p.V243V	1
CYP1B1	BLCA	chr2	38297913	38297913	G	T	Silent		1
CYP1B1	HNSC	chr2	38302190	38302190	G	A	Silent		1
CYP1B1	COAD	chr2	38298150	38298150	A	G	Silent	p.D449D	1
CYP1B1	LGG	chr2	38301921	38301921	A	G	Missense_Mutation	p.V204A	1
CYP1B1	ESCA	chr2	38297742	38297742	T	A	RNA	NULL	1
CYP1B1	LUAD	chr2	38301813	38301814	-	G	Frame_Shift_Ins	p.G240fs	1

Copy number variation (CNV) of CYP1B1
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across CYP1B1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
74241	N/A	AW958883	CYP1B1	chr2	38295189	-	CYP1B1	chr2	38295677	-
74241	N/A	BU689794	CYP1B1	chr2	38297220	+	CYP1B1	chr2	38297661	-
95847	N/A	AA523033	CYP1B1	chr2	38294751	-	S100Z	chr5	76234995	-
74241	PRAD	TCGA-HC-7738-01A	JTB	chr1	153946988	-	CYP1B1	chr2	38303323	-
74244	N/A	CB243208	RMDN2	chr2	38295516	+	CYP1B1	chr2	38295540	-

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
KIRP	CYP1B1	0.00253964800724469	0.071

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
BRCA	CYP1B1	0.000121691483842974	0.0039
SKCM	CYP1B1	3.70023083117041e-05	0.0012
ACC	CYP1B1	0.0107048203939878	0.33
THYM	CYP1B1	0.0133090946884874	0.4

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Q16678	DB01645	Genistein		Small molecule	Investigational
Q16678	DB02342	2-Methoxyestradiol		Small molecule	Investigational
Q16678	DB03467	Naringenin		Small molecule	Experimental
Q16678	DB06732	beta-Naphthoflavone		Small molecule	Experimental
Q16678	DB07776	Flavone		Small molecule	Approved\|Experimental
Q16678	DB09061	Cannabidiol	Inhibitor	Small molecule	Approved\|Investigational
Q16678	DB14011	Nabiximols	Inhibitor	Small molecule	Investigational
Q16678	DB01645	Genistein
Q16678	DB02342	2-Methoxyestradiol
Q16678	DB03467	Naringenin
Q16678	DB06732	beta-Naphthoflavone
Q16678	DB07776	Flavone
Q16678	DB09061	Cannabidiol	Inhibitor
Q16678	DB14011	Nabiximols	Inhibitor

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C1856439	GLAUCOMA 3, PRIMARY CONGENITAL, A	22	CTD_human;GENOMICS_ENGLAND;UNIPROT
C0344559	Irido-corneo-trabecular dysgenesis (disorder)	3	ORPHANET
C0006142	Malignant neoplasm of breast	2	CTD_human
C0678222	Breast Carcinoma	2	CTD_human
C1257931	Mammary Neoplasms, Human	2	CTD_human
C1533041	Primary congenital glaucoma	2	GENOMICS_ENGLAND
C2981140	Glaucoma of childhood	2	ORPHANET
C4310809	ANTERIOR SEGMENT DYSGENESIS 5	2	GENOMICS_ENGLAND
C4704874	Mammary Carcinoma, Human	2	CTD_human
C0007137	Squamous cell carcinoma	1	CTD_human
C0009402	Colorectal Carcinoma	1	CTD_human
C0011616	Contact Dermatitis	1	CTD_human
C0015695	Fatty Liver	1	CTD_human
C0020302	Hydrophthalmos	1	ORPHANET
C0023452	Childhood Acute Lymphoblastic Leukemia	1	CTD_human
C0023453	L2 Acute Lymphoblastic Leukemia	1	CTD_human
C0025202	melanoma	1	CTD_human
C0028754	Obesity	1	CTD_human
C0205646	Adenoma, Basal Cell	1	CTD_human
C0205647	Follicular adenoma	1	CTD_human
C0205648	Adenoma, Microcystic	1	CTD_human
C0205649	Adenoma, Monomorphic	1	CTD_human
C0205650	Papillary adenoma	1	CTD_human
C0205651	Adenoma, Trabecular	1	CTD_human
C0242379	Malignant neoplasm of lung	1	CTD_human
C0376358	Malignant neoplasm of prostate	1	CTD_human
C0919267	ovarian neoplasm	1	CTD_human
C1140680	Malignant neoplasm of ovary	1	CTD_human
C1842028	GLAUCOMA 1, OPEN ANGLE, A	1	UNIPROT
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	1	CTD_human
C2711227	Steatohepatitis	1	CTD_human