KIAA0930

KIAA0930, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 22:45192244-45240894

Previous symbols: [ "C22orf9" ]

Links

ENSG00000100364 ∙ NCBI:23313 ∙ OMIM:619709 ∙ HGNC:1314 ∙ Uniprot:Q6ICG6 ∙ 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 KIAA0930 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIAA0930 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		2	14	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4	1		5
Total	0	2	18	2	1

Variants in KIAA0930

This is a list of pathogenic ClinVar variants found in the KIAA0930 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-45197820-C-T		not specified	Uncertain significance (Dec 16, 2023)
22-45197853-C-T		not specified	Uncertain significance (Nov 14, 2024)
22-45197868-G-T		not specified	Uncertain significance (May 20, 2024)
22-45197897-C-T		not specified	Uncertain significance (Jul 15, 2021)
22-45199899-T-A		not specified	Uncertain significance (Apr 04, 2024)
22-45199915-C-T		Neurodevelopmental disorder	Likely pathogenic (Apr 01, 2023)
22-45199917-G-A		Neurodevelopmental disorder • not specified	Conflicting classifications of pathogenicity (Jun 07, 2023)
22-45199923-G-A		Neurodevelopmental disorder	Likely pathogenic (Apr 01, 2023)
22-45199945-G-A		not specified	Uncertain significance (Dec 05, 2022)
22-45199950-C-T		not specified	Uncertain significance (Oct 06, 2021)
22-45199959-T-C		not specified	Uncertain significance (Oct 03, 2022)
22-45199989-G-C		not specified	Uncertain significance (Oct 18, 2021)
22-45203004-G-A		not specified	Uncertain significance (Jan 09, 2024)
22-45203006-G-A		not specified	Uncertain significance (May 07, 2024)
22-45203111-C-G		not specified	Uncertain significance (Sep 08, 2024)
22-45203124-T-C		not specified	Uncertain significance (Mar 30, 2024)
22-45203127-T-G		not specified	Uncertain significance (Jun 26, 2024)
22-45203152-C-T		not specified	Uncertain significance (Jan 16, 2024)
22-45203172-C-T		not specified	Uncertain significance (Jun 01, 2023)
22-45203876-T-C		not specified	Uncertain significance (Nov 27, 2024)
22-45203912-G-A		not specified	Likely benign (Oct 01, 2024)
22-45203927-C-T		not specified	Uncertain significance (Sep 29, 2023)
22-45205631-T-G		not specified	Uncertain significance (May 09, 2024)
22-45205691-G-C		not specified	Uncertain significance (Mar 28, 2024)
22-45205834-C-T		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KIAA0930	protein_coding	protein_coding	ENST00000251993	10	50432

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000698	0.981	124814	3	930	125747	0.00372

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.72	198	279	0.710	0.0000188	2697
Missense in Polyphen		44	92.125	0.47761		796
Synonymous	-2.70	146	110	1.33	0.00000803	770
Loss of Function	2.09	10	20.1	0.497	9.42e-7	232

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00296	0.00295
Ashkenazi Jewish	0.00625	0.00617
East Asian	0.00	0.00
Finnish	0.00380	0.00380
European (Non-Finnish)	0.00546	0.00531
Middle Eastern	0.00	0.00
South Asian	0.00233	0.00229
Other	0.00496	0.00473

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0926

Intolerance Scores

• rvis_EVS: -0.98
• rvis_percentile_EVS: 8.8

Haploinsufficiency Scores

• pHI: 0.163
• hipred: Y
• hipred_score: 0.673
• ghis: 0.578

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	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: 5031439G07Rik

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function