XKR5

XK related 5, the group of XK related family

Basic information

Region (hg38): 8:6808517-6835524

Links

ENSG00000275591 ∙ NCBI:389610 ∙ ∙ HGNC:20782 ∙ Uniprot:Q6UX68 ∙ 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 XKR5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the XKR5 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				1		1
missense			41	1		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	41	2	0

Variants in XKR5

This is a list of pathogenic ClinVar variants found in the XKR5 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-6811209-A-G		not specified	Uncertain significance (Jan 23, 2024)
8-6811303-C-G		not specified	Uncertain significance (Aug 11, 2024)
8-6811406-C-G		not specified	Uncertain significance (Dec 13, 2023)
8-6811580-G-C		not specified	Uncertain significance (May 31, 2023)
8-6811881-G-C		not specified	Uncertain significance (Jan 09, 2024)
8-6811949-C-T		not specified	Uncertain significance (Jun 16, 2024)
8-6812110-G-A			Likely benign (Apr 01, 2023)
8-6812195-C-G		not specified	Uncertain significance (Sep 14, 2022)
8-6812211-C-T		not specified	Uncertain significance (Jan 03, 2024)
8-6812310-G-C		not specified	Uncertain significance (Sep 29, 2022)
8-6815828-C-T		not specified	Uncertain significance (May 20, 2024)
8-6815861-C-A		not specified	Uncertain significance (Jun 01, 2023)
8-6815864-C-T		not specified	Uncertain significance (Nov 07, 2024)
8-6815875-T-C		not specified	Uncertain significance (Dec 27, 2023)
8-6815876-C-T		not specified	Uncertain significance (Jul 16, 2024)
8-6815881-G-A		not specified	Uncertain significance (Apr 18, 2023)
8-6821877-A-G		not specified	Uncertain significance (Mar 14, 2023)
8-6821900-G-A		not specified	Uncertain significance (May 28, 2023)
8-6821982-C-A		not specified	Uncertain significance (Dec 16, 2023)
8-6821992-A-T		not specified	Uncertain significance (May 09, 2023)
8-6821994-T-A		not specified	Uncertain significance (Jan 24, 2024)
8-6822003-C-T		not specified	Uncertain significance (Jul 05, 2023)
8-6822013-G-C		not specified	Uncertain significance (Feb 06, 2024)
8-6822014-A-G		not specified	Uncertain significance (Oct 25, 2023)
8-6823566-C-A		not specified	Uncertain significance (Jun 11, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0995

Mouse Genome Informatics

• Gene name: Xkr5

Gene ontology

• Cellular component: membrane;integral component of membrane