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.

• not_specified (38 variants)
• KIAA0825-related_disorder (20 variants)
• Polydactyly,_postaxial,_type_a10 (11 variants)
• not_provided (4 variants)
• Polydactyly,_postaxial,_type_A1 (2 variants)
• Autosomal_recessive_nonsyndromic_postaxial_polydactyly (2 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. These statistics are base on transcript: NM_001145678.3. 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					6	6
missense	1	1	41	5	2	50
nonsense			2			2
start loss						0
frameshift	1	1	2			4
splice donor/acceptor (+/-2bp)	1					1
Total	3	2	45	5	8

Highest pathogenic variant AF is 0.00084038597

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