KIAA0232

KIAA0232

Basic information

Region (hg38): 4:6781375-6884170

Links

ENSG00000170871 ∙ NCBI:9778 ∙ OMIM:619237 ∙ HGNC:28992 ∙ Uniprot:Q92628 ∙ 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 KIAA0232 gene.

• not_specified (136 variants)
• KIAA0232-related_disorder (8 variants)
• not_provided (6 variants)

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. These statistics are base on transcript: NM_000014743.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	2	5
missense			130	12	2	144
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	130	15	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA0232	protein_coding	protein_coding	ENST00000307659	8	102796

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000118	124783	0	10	124793	0.0000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.20	629	719	0.874	0.0000363	9200
Missense in Polyphen		182	270.03	0.674		3417
Synonymous	-0.404	279	271	1.03	0.0000144	2641
Loss of Function	6.17	5	53.9	0.0927	0.00000276	709

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000936	0.0000936
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000533	0.0000530
Middle Eastern	0.00	0.00
South Asian	0.0000671	0.0000654
Other	0.00	0.00

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

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

Mouse Genome Informatics

• Gene name: D5Ertd579e

Gene ontology

• Molecular function: ATP binding