CYP1B1-AS1

ncRNA

CYP1B1 antisense RNA 1, the group of Antisense RNAs

Gene summary

Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C2orf58

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:1U:2B:1

Top phenotype

Glaucoma 3A

Max pathogenic AF

—

Genomic locus

chr2:38,073,447-38,231,651

External References & Databases

Ensembl (ENSG00000232973)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CYP1B1-AS1 variants in ClinVar

18 Conditions Cataloged

Glaucoma 3ATotal: 49

Congenital glaucomaTotal: 38

Anterior segment dysgenesis 6Total: 36

Irido-corneo-trabecular dysgenesisTotal: 36

not providedTotal: 35

not specifiedTotal: 27

Inborn genetic diseasesTotal: 16

Primary congenital glaucomaTotal: 15

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	1 clinvar		2 clinvar		1 clinvar	4
Total	1	0	2	0	1	4

Highest pathogenic variant AF is 0.00021674

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP