KIAA0232

KIAA0232

Basic information

Region (hg38): 4:6781375-6884170

Links

ENSG00000170871NCBI:9778OMIM:619237HGNC:28992Uniprot:Q92628AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIAA0232 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA0232 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
62
clinvar
7
clinvar
3
clinvar
72
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 62 7 5

Variants in KIAA0232

This is a list of pathogenic ClinVar variants found in the KIAA0232 region.

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

Position Type Phenotype Significance ClinVar
4-6824457-T-C not specified Uncertain significance (Mar 30, 2024)3288055
4-6824458-A-G not specified Uncertain significance (Mar 30, 2024)3288056
4-6824465-C-G KIAA0232-related disorder Uncertain significance (Jul 18, 2024)3345750
4-6824470-C-T not specified Uncertain significance (Jan 23, 2024)3114038
4-6824478-G-T not specified Uncertain significance (Dec 21, 2022)2402074
4-6824501-C-G KIAA0232-related disorder Likely benign (Mar 07, 2023)3052068
4-6824611-A-T KIAA0232-related disorder Uncertain significance (Jun 06, 2023)2632683
4-6842095-A-C not specified Uncertain significance (Dec 17, 2023)3114042
4-6842157-A-T not specified Uncertain significance (May 31, 2023)2521503
4-6842204-A-G Likely benign (Apr 23, 2018)782439
4-6858451-G-A not specified Uncertain significance (Oct 12, 2022)2203820
4-6858472-G-C not specified Uncertain significance (Sep 11, 2024)3533355
4-6858488-C-T not specified Uncertain significance (May 16, 2024)3288059
4-6858496-C-G not specified Uncertain significance (Oct 20, 2024)3533356
4-6860989-T-C not specified Uncertain significance (Aug 12, 2021)2244026
4-6860999-C-G not specified Uncertain significance (Jun 21, 2023)2605009
4-6861068-G-A not specified Uncertain significance (Oct 06, 2021)2254077
4-6861149-A-C not specified Uncertain significance (May 03, 2023)2542690
4-6861161-G-A not specified Uncertain significance (Mar 07, 2024)3114047
4-6861202-C-A not specified Uncertain significance (May 23, 2023)2549782
4-6861364-C-T not specified Uncertain significance (Nov 10, 2024)3533360
4-6861365-G-A not specified Uncertain significance (Apr 25, 2023)2508710
4-6861397-G-A not specified Uncertain significance (May 09, 2023)2545809
4-6861424-A-T not specified Uncertain significance (Feb 15, 2023)2484829
4-6861428-G-A not specified Uncertain significance (Jan 08, 2024)3114032

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KIAA0232protein_codingprotein_codingENST00000307659 8102796
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.000.00001181247830101247930.0000401
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.206297190.8740.00003639200
Missense in Polyphen182270.030.6743417
Synonymous-0.4042792711.030.00001442641
Loss of Function6.17553.90.09270.00000276709

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009360.0000936
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00005330.0000530
Middle Eastern0.000.00
South Asian0.00006710.0000654
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.129

Intolerance Scores

loftool
0.0470
rvis_EVS
-1.72
rvis_percentile_EVS
2.48

Haploinsufficiency Scores

pHI
0.461
hipred
Y
hipred_score
0.543
ghis
0.580

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.866

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
D5Ertd579e
Phenotype

Gene ontology

Biological process
Cellular component
Molecular function
ATP binding