KIAA2026

KIAA2026

Basic information

Region (hg38): 9:5881595-6008482

Links

ENSG00000183354 ∙ NCBI:158358 ∙ ∙ HGNC:23378 ∙ Uniprot:Q5HYC2 ∙ 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 KIAA2026 gene.

• Inborn genetic diseases (100 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA2026 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	1	3
missense			95	4		99
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	95	7	1

Variants in KIAA2026

This is a list of pathogenic ClinVar variants found in the KIAA2026 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-5892542-C-A		not specified	Uncertain significance (Nov 08, 2021)
9-5892542-C-T		not specified	Uncertain significance (Nov 21, 2022)
9-5897618-T-C		not specified	Uncertain significance (Aug 02, 2021)
9-5906947-T-G		not specified	Likely benign (Jun 21, 2022)
9-5906952-A-T		not specified	Uncertain significance (Oct 29, 2021)
9-5908647-A-G		not specified	Uncertain significance (Mar 05, 2024)
9-5919718-G-A		not specified	Uncertain significance (May 18, 2022)
9-5919734-G-A		not specified	Uncertain significance (Apr 07, 2022)
9-5919736-A-C		not specified	Uncertain significance (Dec 18, 2023)
9-5919748-G-C		not specified	Uncertain significance (Feb 10, 2022)
9-5919754-C-T		not specified	Uncertain significance (Oct 27, 2021)
9-5919769-A-G		not specified	Uncertain significance (Mar 29, 2022)
9-5919782-G-A		not specified	Uncertain significance (Oct 20, 2023)
9-5919788-G-C		not specified	Uncertain significance (Apr 07, 2022)
9-5919820-T-C		not specified	Uncertain significance (Feb 13, 2024)
9-5919869-C-T		not specified	Uncertain significance (Nov 17, 2022)
9-5919880-A-C		not specified	Uncertain significance (Nov 17, 2022)
9-5919913-G-A		not specified	Uncertain significance (May 24, 2023)
9-5919920-T-C		not specified	Uncertain significance (Aug 16, 2022)
9-5919939-C-A		not specified	Uncertain significance (Mar 06, 2023)
9-5919943-G-C		not specified	Uncertain significance (Jun 03, 2022)
9-5920021-A-G		not specified	Uncertain significance (Aug 04, 2023)
9-5920028-C-T		not specified	Uncertain significance (Aug 12, 2021)
9-5920046-G-C		not specified	Uncertain significance (Nov 21, 2022)
9-5920067-G-A		not specified	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA2026	protein_coding	protein_coding	ENST00000399933	8	126306

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.659	0.341	124587	0	52	124639	0.000209

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-4.33	1447	1.05e+3	1.38	0.0000517	13525
Missense in Polyphen		346	334.41	1.0347		4463
Synonymous	-7.12	575	395	1.46	0.0000199	4360
Loss of Function	5.87	14	65.0	0.215	0.00000321	922

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000245	0.000245
Ashkenazi Jewish	0.0000997	0.0000994
East Asian	0.000223	0.000223
Finnish	0.000232	0.000232
European (Non-Finnish)	0.000258	0.000257
Middle Eastern	0.000223	0.000223
South Asian	0.000196	0.000196
Other	0.000175	0.000165

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0898

Haploinsufficiency Scores

• pHI: 0.481
• ghis: 0.587

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.391

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 9930021J03Rik