KLHL38

kelch like family member 38, the group of BTB domain containing|Kelch like

Basic information

Region (hg38): 8:123644442-123653801

Links

ENSG00000175946NCBI:340359HGNC:34435Uniprot:Q2WGJ6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KLHL38 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLHL38 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
clinvar
2
missense
55
clinvar
1
clinvar
2
clinvar
58
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 55 1 4

Variants in KLHL38

This is a list of pathogenic ClinVar variants found in the KLHL38 region.

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

Position Type Phenotype Significance ClinVar
8-123645759-G-A not specified Uncertain significance (Feb 17, 2022)2380684
8-123645864-C-T not specified Uncertain significance (Feb 27, 2023)2464560
8-123645870-C-T not specified Uncertain significance (Dec 21, 2023)3115741
8-123645887-G-A not specified Uncertain significance (Jun 18, 2024)3289027
8-123645896-C-T not specified Uncertain significance (May 17, 2023)2548114
8-123645897-G-A not specified Uncertain significance (Oct 26, 2021)2205992
8-123645912-C-T not specified Uncertain significance (May 10, 2022)2397605
8-123645953-C-A not specified Uncertain significance (Jun 03, 2024)2345121
8-123645999-G-T not specified Uncertain significance (Mar 22, 2023)2508249
8-123646927-G-A not specified Uncertain significance (May 23, 2023)2550281
8-123646967-C-A not specified Uncertain significance (Jun 18, 2024)3289026
8-123646981-T-G not specified Uncertain significance (Jun 29, 2023)2607619
8-123651594-G-A not specified Uncertain significance (Aug 02, 2023)2615632
8-123651617-C-T not specified Uncertain significance (May 09, 2024)2205128
8-123651627-A-G not specified Uncertain significance (Jun 06, 2022)2294119
8-123651640-T-A not specified Uncertain significance (Oct 10, 2023)3115739
8-123651648-C-A not specified Uncertain significance (Mar 27, 2023)2530265
8-123651648-C-T not specified Uncertain significance (Nov 09, 2023)3115738
8-123651691-C-A not specified Uncertain significance (Sep 14, 2022)3115737
8-123651705-A-G not specified Uncertain significance (Sep 17, 2021)2218774
8-123651709-G-T not specified Uncertain significance (Oct 06, 2021)2379859
8-123651732-C-T not specified Uncertain significance (Jul 06, 2022)2299870
8-123651741-C-G not specified Uncertain significance (Jun 29, 2023)2608282
8-123651747-C-G Benign (Aug 23, 2019)1245653
8-123651755-A-G not specified Uncertain significance (Nov 08, 2022)2346881

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KLHL38protein_codingprotein_codingENST00000325995 37424
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.41e-80.3741247151961248120.000389
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.234123481.190.00002063827
Missense in Polyphen9580.4441.1809820
Synonymous-2.281851491.240.000009921139
Loss of Function0.7911417.60.7968.32e-7214

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005980.000597
Ashkenazi Jewish0.000.00
East Asian0.0006120.000612
Finnish0.000.00
European (Non-Finnish)0.0004870.000477
Middle Eastern0.0006120.000612
South Asian0.0006870.000654
Other0.000.00

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.442
rvis_EVS
0.52
rvis_percentile_EVS
80.37

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.251
ghis
0.447

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.202

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Klhl38
Phenotype

Gene ontology

Biological process
Cellular component
Molecular function
protein binding