PCAT7

prostate cancer associated transcript 7, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 9:94554599-94603990

Links

ENSG00000231806 ∙ NCBI:101928099 ∙ ∙ HGNC:48824 ∙ ∙ ∙ 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 PCAT7 gene.

• Fructose-biphosphatase deficiency (36 variants)
• not provided (19 variants)
• Inborn genetic diseases (17 variants)
• not specified (10 variants)
• Leukodystrophy, childhood-onset, remitting (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCAT7 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	5	5	29	15	8	62
Total	5	5	29	15	8

Highest pathogenic variant AF is 0.0000131

Variants in PCAT7

This is a list of pathogenic ClinVar variants found in the PCAT7 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-94558939-T-C			Benign (Dec 31, 2019)
9-94558959-C-G		not specified	Uncertain significance (Oct 13, 2023)
9-94559033-C-T		not specified	Uncertain significance (Jan 16, 2024)
9-94559042-C-A		not specified	Uncertain significance (Sep 01, 2021)
9-94559063-C-G		not specified	Uncertain significance (Mar 18, 2024)
9-94559122-A-G			Likely benign (Jul 01, 2024)
9-94559128-C-A		not specified	Uncertain significance (Mar 18, 2024)
9-94563388-C-G		not specified	Uncertain significance (Mar 06, 2023)
9-94563421-A-G		not specified	Uncertain significance (Dec 06, 2023)
9-94567300-A-G			Benign (Dec 31, 2019)
9-94567340-A-G		not specified	Uncertain significance (Aug 21, 2023)
9-94567343-C-T		not specified	Benign (Jan 06, 2020)
9-94567349-A-G		not specified	Uncertain significance (Apr 12, 2024)
9-94571466-T-A		not specified	Uncertain significance (Jun 02, 2024)
9-94571473-T-C		not specified	Uncertain significance (May 15, 2024)
9-94571484-A-T		not specified	Uncertain significance (Oct 05, 2022)
9-94571485-C-T		not specified	Uncertain significance (Apr 25, 2023)
9-94571520-C-A		not specified	Uncertain significance (Feb 16, 2023)
9-94571525-G-A			Likely benign (Jan 01, 2023)
9-94584606-T-C		not specified	Uncertain significance (Aug 12, 2021)
9-94584660-C-T		Leukodystrophy, childhood-onset, remitting	Uncertain significance (Mar 01, 2024)
9-94584662-T-C		not specified	Uncertain significance (Aug 04, 2023)
9-94587330-T-C		not specified	Uncertain significance (Feb 21, 2024)
9-94587383-A-G			Benign (Nov 01, 2023)
9-94587429-C-G		not specified	Uncertain significance (Apr 20, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP