PCOTH

prostate and testis expressed opposite C1QTNF9B and MIPEP, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 13:23888749-23897263

Previous symbols: [ "C1QTNF9B-AS1" ]

Links

ENSG00000205861 ∙ NCBI:542767 ∙ OMIM:617122 ∙ HGNC:39839 ∙ Uniprot:Q58A44 ∙ AlphaFold ∙ 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 PCOTH gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCOTH 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			2			2
non coding			24	9	7	40
Total	0	0	24	9	7

Variants in PCOTH

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

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

Position	Type	Phenotype	Significance	ClinVar
13-23888993-C-G			Benign (May 13, 2021)
13-23889122-C-T			Likely benign (May 22, 2023)
13-23889126-GC-TT		Inborn genetic diseases	Uncertain significance (Feb 17, 2024)
13-23889133-C-A			Uncertain significance (Dec 02, 2024)
13-23889136-C-G		Inborn genetic diseases	Uncertain significance (Jan 29, 2024)
13-23889137-G-A		MIPEP-related disorder • Inborn genetic diseases	Likely benign (Apr 23, 2024)
13-23889154-A-C			Benign (Nov 14, 2023)
13-23889163-CCCTGGGGCTTGA-C		Inborn genetic diseases	Uncertain significance (Jul 25, 2022)
13-23889168-G-A			Likely benign (Apr 20, 2022)
13-23889169-G-C		Inborn genetic diseases	Uncertain significance (Aug 20, 2024)
13-23889183-G-C			Likely benign (Jun 29, 2023)
13-23889217-C-A			Uncertain significance (Nov 01, 2017)
13-23889234-G-A			Likely benign (Oct 13, 2022)
13-23889239-C-T			Uncertain significance (Jul 03, 2022)
13-23889252-G-A			Likely benign (May 24, 2022)
13-23889257-C-T		Inborn genetic diseases	Uncertain significance (Sep 17, 2021)
13-23889262-C-T		Inborn genetic diseases	Uncertain significance (Jul 12, 2022)
13-23889275-C-A			Benign (Nov 10, 2023)
13-23889281-C-T		Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome • Inborn genetic diseases	Conflicting classifications of pathogenicity (Apr 09, 2024)
13-23889303-C-A			Uncertain significance (Mar 13, 2023)
13-23889306-T-G		MIPEP-related disorder	Likely benign (Dec 05, 2023)
13-23889479-C-G			Benign (May 13, 2021)
13-23891312-A-G		not specified	Uncertain significance (Nov 08, 2024)
13-23891333-C-T		not specified	Uncertain significance (Jan 18, 2023)
13-23891334-G-A			Benign (Aug 02, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in growth and survival of prostate cancer cells through the TAF-Ibeta pathway.

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.341

Gene ontology

• Cellular component: cytoplasm
• Molecular function: protein binding