KLHL26

kelch like family member 26, the group of BTB domain containing|Kelch like

Basic information

Region (hg38): 19:18637024-18671721

Links

ENSG00000167487 ∙ NCBI:55295 ∙ ∙ HGNC:25623 ∙ Uniprot:Q53HC5 ∙ 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 KLHL26 gene.

• Inborn genetic diseases (23 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLHL26 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				2		2
missense			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	2	0

Variants in KLHL26

This is a list of pathogenic ClinVar variants found in the KLHL26 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-18637059-C-T		not specified	Uncertain significance (Oct 03, 2022)
19-18637113-G-A		not specified	Uncertain significance (Aug 15, 2023)
19-18637135-C-G		not specified	Uncertain significance (Feb 28, 2023)
19-18664367-G-C		not specified	Uncertain significance (Aug 26, 2022)
19-18664415-G-A		not specified	Uncertain significance (Jul 26, 2021)
19-18664433-G-A		not specified	Uncertain significance (Sep 22, 2022)
19-18667704-G-A		not specified	Likely benign (Jan 29, 2024)
19-18667723-T-A		not specified	Uncertain significance (Jan 25, 2023)
19-18667749-A-G		not specified	Uncertain significance (Apr 07, 2022)
19-18668004-C-T		not specified	Uncertain significance (Mar 03, 2022)
19-18668030-C-T			Likely benign (Mar 01, 2023)
19-18668068-T-C		not specified	Uncertain significance (Feb 14, 2023)
19-18668116-G-A		not specified	Uncertain significance (Jul 25, 2023)
19-18668142-T-C		not specified	Uncertain significance (Oct 04, 2022)
19-18668148-A-G		not specified	Uncertain significance (Jan 02, 2024)
19-18668170-C-G		not specified	Uncertain significance (Dec 05, 2022)
19-18668187-A-G		not specified	Uncertain significance (Dec 15, 2023)
19-18668254-A-G		not specified	Uncertain significance (Jul 06, 2021)
19-18668275-G-A		not specified	Uncertain significance (Dec 08, 2023)
19-18668314-C-T		not specified	Uncertain significance (Jan 29, 2024)
19-18668500-G-A		not specified	Uncertain significance (May 18, 2023)
19-18668584-T-C		not specified	Uncertain significance (Nov 07, 2022)
19-18668658-C-T		not specified	Uncertain significance (Nov 20, 2023)
19-18668680-C-T		not specified	Uncertain significance (Sep 26, 2022)
19-18668688-G-A		not specified	Uncertain significance (Dec 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLHL26	protein_coding	protein_coding	ENST00000300976	3	33535

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000219	0.906	125414	0	60	125474	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	373	452	0.826	0.0000348	3933
Missense in Polyphen		134	177.18	0.75631		1579
Synonymous	-0.780	233	218	1.07	0.0000188	1305
Loss of Function	1.64	12	19.9	0.603	0.00000101	196

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000696	0.000672
Ashkenazi Jewish	0.00	0.00
East Asian	0.000662	0.000599
Finnish	0.0000568	0.0000462
European (Non-Finnish)	0.000224	0.000203
Middle Eastern	0.000662	0.000599
South Asian	0.000233	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.523
• rvis_EVS: -1.64
• rvis_percentile_EVS: 2.78

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.432
• ghis: 0.607

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.285

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Klhl26