PCDHB9

protocadherin beta 9, the group of Clustered protocadherins

Basic information

Region (hg38): 5:141187127-141191541

Links

ENSG00000177839 ∙ NCBI:56127 ∙ OMIM:606335 ∙ HGNC:8694 ∙ Uniprot:Q9Y5E1 ∙ 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 PCDHB9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PCDHB9 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				5		5
missense			39	3		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	8	0

Variants in PCDHB9

This is a list of pathogenic ClinVar variants found in the PCDHB9 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-141187328-A-G		not specified	Likely benign (Mar 31, 2022)
5-141187379-T-G		not specified	Uncertain significance (Dec 25, 2024)
5-141187389-C-T		not specified	Uncertain significance (Jul 22, 2024)
5-141187395-C-T		not specified	Uncertain significance (Dec 21, 2022)
5-141187398-G-A		not specified	Uncertain significance (Aug 04, 2024)
5-141187404-G-T		not specified	Uncertain significance (Jan 21, 2025)
5-141187454-G-C		not specified	Uncertain significance (Jan 20, 2025)
5-141187486-G-T		not specified	Uncertain significance (Apr 26, 2023)
5-141187499-G-A		not specified	Uncertain significance (Jan 25, 2023)
5-141187538-T-C		not specified	Likely benign (Jan 01, 2025)
5-141187571-C-T		not specified	Uncertain significance (Aug 15, 2024)
5-141187607-G-T		not specified	Uncertain significance (Nov 09, 2024)
5-141187643-T-A		not specified	Uncertain significance (Aug 22, 2023)
5-141187689-G-A		not specified	Uncertain significance (Sep 04, 2024)
5-141187712-G-C		not specified	Uncertain significance (Nov 28, 2024)
5-141187730-A-G		not specified	Uncertain significance (Nov 15, 2024)
5-141187739-A-G		not specified	Uncertain significance (Jul 11, 2022)
5-141187769-G-C		not specified	Uncertain significance (Jan 04, 2024)
5-141187770-C-T		not specified	Uncertain significance (Sep 27, 2024)
5-141187774-T-G		not specified	Uncertain significance (Jul 20, 2022)
5-141187814-A-G		not specified	Likely benign (Feb 01, 2023)
5-141187820-C-G		not specified	Uncertain significance (Sep 08, 2024)
5-141187861-A-C		not specified	Uncertain significance (Dec 01, 2022)
5-141187861-A-T		not specified	Uncertain significance (Sep 29, 2023)
5-141187903-G-T			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

Recessive Scores

• pRec: 0.107

Gene ontology

• Biological process: cell adhesion;homophilic cell adhesion via plasma membrane adhesion molecules;chemical synaptic transmission;synapse assembly;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
• Cellular component: integral component of plasma membrane;integral component of membrane
• Molecular function: calcium ion binding