PCAT1

prostate cancer associated transcript 1, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 8:126556323-127419050

Links

ENSG00000253438 ∙ NCBI:100750225 ∙ OMIM:616043 ∙ HGNC:43022 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PCAT1 gene.

• Inborn genetic diseases (19 variants)
• Familial prostate carcinoma (7 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCAT1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			19	1		20
Total	0	0	19	1	0

Variants in PCAT1

This is a list of pathogenic ClinVar variants found in the PCAT1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-126556498-G-A		not specified	Uncertain significance (Mar 06, 2023)
8-126556521-G-A		not specified	Uncertain significance (Jan 04, 2024)
8-126556557-G-A		not specified	Uncertain significance (Jun 24, 2022)
8-126556612-T-A		not specified	Uncertain significance (Dec 21, 2022)
8-126556786-C-G		not specified	Uncertain significance (Mar 15, 2024)
8-126556849-C-T		not specified	Uncertain significance (Jan 17, 2023)
8-126556882-G-C		not specified	Uncertain significance (Aug 02, 2023)
8-126556903-G-T		not specified	Uncertain significance (Jun 28, 2022)
8-126556974-T-C		not specified	Uncertain significance (Dec 19, 2022)
8-126556997-C-CGG			not provided (-)
8-126557048-G-C		not specified	Uncertain significance (Aug 26, 2022)
8-126557053-G-A		not specified	Uncertain significance (May 27, 2022)
8-126557149-C-A		not specified	Uncertain significance (Jan 24, 2023)
8-126557173-G-A		not specified	Uncertain significance (Mar 28, 2024)
8-126557209-C-T		not specified	Uncertain significance (Jun 17, 2024)
8-126557212-G-A		not specified	Uncertain significance (Dec 08, 2023)
8-126929548-G-A		Familial prostate cancer	association (-)
8-127091872-A-G		Familial prostate cancer	association (-)
8-127179427-T-A		Familial prostate cancer	association (-)
8-127193633-G-T		Familial prostate cancer	association (-)
8-127196124-A-G		Familial prostate cancer	association (-)
8-127273163-GATAA-G		Familial prostate cancer	association (-)
8-127325027-T-TAC		Familial prostate cancer	association (-)
8-127415939-G-C		not specified	Uncertain significance (Sep 20, 2023)
8-127416027-G-C		not specified	Uncertain significance (Jun 30, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP