KIAA0513

KIAA0513

Basic information

Region (hg38): 16:85027781-85094230

Links

ENSG00000135709 ∙ NCBI:9764 ∙ OMIM:611675 ∙ HGNC:29058 ∙ Uniprot:O60268 ∙ 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 KIAA0513 gene.

• Inborn genetic diseases (16 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA0513 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in KIAA0513

This is a list of pathogenic ClinVar variants found in the KIAA0513 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-85067081-C-A		not specified	Uncertain significance (Jun 12, 2023)
16-85067101-G-A			Likely benign (Mar 01, 2022)
16-85067127-C-T		not specified	Uncertain significance (Sep 29, 2023)
16-85067156-C-G		not specified	Uncertain significance (May 23, 2023)
16-85067178-G-T		not specified	Uncertain significance (Dec 15, 2023)
16-85067181-C-G		not specified	Uncertain significance (Aug 09, 2021)
16-85067190-A-G		not specified	Uncertain significance (Aug 02, 2021)
16-85067211-C-A		not specified	Uncertain significance (Sep 12, 2023)
16-85067223-C-T		not specified	Uncertain significance (Mar 01, 2023)
16-85067262-C-T		not specified	Uncertain significance (Feb 28, 2023)
16-85067283-G-C		not specified	Uncertain significance (Jan 04, 2024)
16-85067313-A-T		not specified	Uncertain significance (Jan 23, 2024)
16-85067324-G-A		not specified	Uncertain significance (Dec 12, 2023)
16-85071865-C-G		not specified	Uncertain significance (Jul 14, 2021)
16-85071871-G-A		not specified	Uncertain significance (Dec 22, 2023)
16-85072932-A-C		not specified	Uncertain significance (Dec 19, 2022)
16-85072941-G-A		not specified	Uncertain significance (Dec 16, 2023)
16-85072965-G-A		not specified	Uncertain significance (Jan 02, 2024)
16-85075894-G-C		not specified	Uncertain significance (Jul 21, 2021)
16-85077446-C-T		not specified	Uncertain significance (Jun 22, 2021)
16-85077494-C-T		not specified	Uncertain significance (Mar 01, 2024)
16-85077535-C-T		not specified	Uncertain significance (Jul 13, 2021)
16-85077575-A-G		not specified	Uncertain significance (Mar 29, 2022)
16-85081377-G-A		not specified	Uncertain significance (May 03, 2023)
16-85086645-G-C		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA0513	protein_coding	protein_coding	ENST00000566428	12	66462

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.235	0.765	125735	0	8	125743	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.285	267	254	1.05	0.0000157	2708
Missense in Polyphen		86	86.871	0.98997		959
Synonymous	-2.12	139	111	1.26	0.00000793	756
Loss of Function	3.50	6	24.8	0.241	0.00000121	273

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000275	0.0000264
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.466
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.43

Haploinsufficiency Scores

• pHI: 0.177
• hipred: Y
• hipred_score: 0.704
• ghis: 0.594

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.390

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 6430548M08Rik

Gene ontology

• Cellular component: cytoplasm