KIAA0825

KIAA0825, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 5:94150851-94618604

Previous symbols: [ "C5orf36" ]

Links

ENSG00000185261 ∙ NCBI:285600 ∙ OMIM:617266 ∙ HGNC:28532 ∙ Uniprot:Q8IV33 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• polydactyly, postaxial, type a10 (Limited), mode of inheritance: AR
• postaxial polydactyly type A (Supportive), mode of inheritance: AR
• polydactyly, postaxial, type a10 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Polydactyly, postaxial, type A10	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Musculoskeletal	30982135

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIAA0825 gene.

• Polydactyly, postaxial, type a10 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA0825 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					8	8
missense		1	18	4	6	29
nonsense			2			2
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)	1					1
splice region					3	3
non coding						0
Total	1	1	20	5	14

Highest pathogenic variant AF is 0.000427

Variants in KIAA0825

This is a list of pathogenic ClinVar variants found in the KIAA0825 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-94384466-T-C		KIAA0825-related disorder	Benign (Nov 20, 2019)
5-94386289-G-A		Polydactyly, postaxial, type a10	Uncertain significance (Jan 03, 2022)
5-94386331-G-A		KIAA0825-related disorder	Benign (Nov 04, 2019)
5-94386344-G-A		Polydactyly, postaxial, type a10	Uncertain significance (Jan 01, 2024)
5-94386345-G-T		KIAA0825-related disorder	Benign (Nov 19, 2019)
5-94391521-GGCCGTTTCCCTACCTCATT-G		Polydactyly, postaxial, type a10	Pathogenic (Apr 11, 2023)
5-94391539-T-C		KIAA0825-related disorder	Benign (Jul 10, 2024)
5-94391620-A-C		KIAA0825-related disorder	Likely benign (Aug 31, 2020)
5-94396252-C-A		not specified	Uncertain significance (Oct 22, 2021)
5-94396280-A-G		Polydactyly, postaxial, type a10 • KIAA0825-related disorder	Benign (Aug 19, 2021)
5-94396384-A-T		KIAA0825-related disorder	Likely benign (Feb 16, 2023)
5-94403650-C-A		KIAA0825-related disorder	Uncertain significance (Nov 01, 2023)
5-94417293-T-A		KIAA0825-related disorder • not specified	Uncertain significance (Sep 30, 2021)
5-94417312-C-T		Polydactyly, postaxial, type a10 • KIAA0825-related disorder	Benign (Aug 19, 2021)
5-94417355-G-A		KIAA0825-related disorder	Benign (Jul 10, 2024)
5-94440063-G-T		not specified	Uncertain significance (Sep 01, 2021)
5-94462424-ATGT-A		KIAA0825-related disorder	Likely benign (Jun 04, 2022)
5-94462437-A-T		KIAA0825-related disorder	Benign (Dec 13, 2019)
5-94462460-T-A		Polydactyly, postaxial, type a10 • Polydactyly, postaxial, type A1 • Autosomal recessive nonsyndromic postaxial polydactyly	Uncertain significance (Dec 23, 2022)
5-94462547-T-G		KIAA0825-related disorder	Likely benign (May 10, 2023)
5-94464912-A-T		Polydactyly, postaxial, type a10	Likely pathogenic (Apr 11, 2023)
5-94464955-T-C		KIAA0825-related disorder	Benign (Nov 06, 2019)
5-94464974-T-C		not specified	Uncertain significance (Jul 09, 2021)
5-94465053-T-C		Polydactyly, postaxial, type a10	Uncertain significance (Mar 26, 2024)
5-94470000-A-G		KIAA0825-related disorder	Benign (Jan 28, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA0825	protein_coding	protein_coding	ENST00000329378	3	465639

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.28e-9	0.125	125667	0	65	125732	0.000259

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.595	136	157	0.866	0.00000731	2165
Missense in Polyphen		28	39.379	0.71105		585
Synonymous	1.88	39	57.0	0.684	0.00000273	559
Loss of Function	0.121	13	13.5	0.964	6.35e-7	178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000550	0.000547
Ashkenazi Jewish	0.00	0.00
East Asian	0.000276	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000354	0.000352
Middle Eastern	0.000276	0.000272
South Asian	0.000265	0.000261
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• pHI: 0.0566
• hipred: N
• hipred_score: 0.161

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 2210408I21Rik