PCBP1-AS1

PCBP1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:69963254-70105068

Links

ENSG00000179818 ∙ NCBI:400960 ∙ ∙ HGNC:42948 ∙ ∙ ∙ 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 PCBP1-AS1 gene.

• Inborn genetic diseases (13 variants)
• Autosomal dominant lamellar ichthyosis (3 variants)
• Malignant tumor of prostate (1 variants)
• not provided (1 variants)
• Neurodevelopmental disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCBP1-AS1 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	3	1	12	3		19
Total	3	1	12	3	0

Variants in PCBP1-AS1

This is a list of pathogenic ClinVar variants found in the PCBP1-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-70087777-G-A		not specified	Uncertain significance (Feb 10, 2022)
2-70087880-G-A		Neurodevelopmental disorder	Uncertain significance (Sep 21, 2021)
2-70087976-A-G		not specified	Uncertain significance (Sep 20, 2024)
2-70088017-G-T		not specified	Uncertain significance (Jul 02, 2024)
2-70088293-C-T		Inborn genetic diseases	Likely pathogenic (Jun 17, 2014)
2-70088392-C-A		not specified	Uncertain significance (Apr 07, 2023)
2-70088396-C-T		not specified	Uncertain significance (May 12, 2024)
2-70088429-C-G		not specified	Uncertain significance (Nov 23, 2024)
2-70088431-A-G		not specified	Uncertain significance (Apr 08, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.183