KIAA2013

KIAA2013

Basic information

Region (hg38): 1:11919590-11926428

Links

ENSG00000116685 ∙ NCBI:90231 ∙ ∙ HGNC:28513 ∙ Uniprot:Q8IYS2 ∙ 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 KIAA2013 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA2013 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						0
missense			30	1		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	1	0

Variants in KIAA2013

This is a list of pathogenic ClinVar variants found in the KIAA2013 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-11920332-C-T		not specified	Uncertain significance (May 17, 2023)
1-11922640-C-T		not specified	Uncertain significance (Mar 27, 2023)
1-11922678-G-C		not specified	Uncertain significance (Sep 20, 2023)
1-11922704-G-A		not specified	Uncertain significance (May 08, 2024)
1-11922892-G-A		not specified	Uncertain significance (Aug 17, 2022)
1-11922898-G-A			Likely benign (Feb 01, 2023)
1-11922913-G-A		not specified	Uncertain significance (Jun 10, 2024)
1-11922916-G-A		not specified	Uncertain significance (Jan 06, 2023)
1-11922919-G-A		not specified	Uncertain significance (Aug 01, 2022)
1-11922967-T-C		not specified	Uncertain significance (Apr 10, 2023)
1-11922983-G-A		not specified	Uncertain significance (Nov 20, 2023)
1-11922992-C-T		not specified	Uncertain significance (May 18, 2023)
1-11923104-G-C		not specified	Uncertain significance (Oct 20, 2021)
1-11923106-C-T		not specified	Uncertain significance (Jun 05, 2023)
1-11923123-T-C		not specified	Uncertain significance (Nov 22, 2022)
1-11923201-C-T		not specified	Uncertain significance (Feb 21, 2024)
1-11923282-G-A		not specified	Uncertain significance (Jun 11, 2024)
1-11923327-T-C		not specified	Uncertain significance (Dec 28, 2022)
1-11923385-G-A		not specified	Uncertain significance (Nov 08, 2022)
1-11923439-C-T		not specified	Uncertain significance (Jan 03, 2022)
1-11923460-G-C		not specified	Uncertain significance (May 12, 2024)
1-11923465-T-G		not specified	Uncertain significance (Jan 30, 2024)
1-11925222-G-A		not specified	Uncertain significance (Dec 30, 2023)
1-11925256-C-A		not specified	Uncertain significance (Dec 06, 2021)
1-11925603-G-A		not specified	Uncertain significance (Mar 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA2013	protein_coding	protein_coding	ENST00000376572	3	6838

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00978	0.981	125728	0	14	125742	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.83	248	344	0.722	0.0000194	3970
Missense in Polyphen		106	165.16	0.64182		2004
Synonymous	-0.683	184	173	1.07	0.0000111	1435
Loss of Function	2.27	6	15.7	0.383	7.59e-7	176

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000634	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.184
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.276

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 2510039O18Rik

Gene ontology

• Cellular component: membrane;integral component of membrane