KIAA0930

Gene

KIAA0930, the group of MicroRNA protein coding host genes

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C22orf9

MANE transcript

NM_001009880.2

Inheritance

—

ClinVar variants

P:3U:56B:4

Top phenotype

Neurodevelopmental disorder

gnomAD constraint

pLI —, LoF o/e 0.5

Max pathogenic AF

—

Genomic locus

chr22:45,192,244-45,240,894

External References & Databases

Ensembl (ENSG00000100364)

Transcript & Mutation Effects

hg38 • Region Span ~48.7 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KIAA0930 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 57

not providedTotal: 5

Neurodevelopmental disorderTotal: 3

KIAA0930-related conditionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001009880.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	1 clinvar	1 clinvar	6
missense		3 clinvar	50 clinvar	2 clinvar		55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	3	56	3	1	63

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001009880.2	RefSeq	NP_001009880.1	10	MANE Select
ENST00000336156.10	Ensembl	ENSP00000336720.4	10	MANE Select
NM_015264.2	RefSeq	NP_056079.1	10	Standard
ENST00000251993.11	Ensembl	ENSP00000251993.7	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function

Cellular Component

cellular_component

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000251993
Coding exons: 10
Length: 50432
Individuals with no LoFs: 124814
Homozygous LoFs: 3
Heterozygous LoFs: 930
Defined: 125747
p: 0.00372

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.72	198	279	0.710	0.0000188	2697
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00075	0.00074	rare
Latino/Admixed American	0.0022	0.0022	notable
Ashkenazi Jewish	0.0062	0.0062	notable
East Asian	0	0.0	absent
Finnish	0.0038	0.0038	notable
European (Non-Finnish)	0.0055	0.0053	notable
South Asian	0.0023	0.0023	notable
Other	0.0050	0.0047	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0926

Intolerance Scores

RVIS EVS: -0.98
RVIS percentile EVS: 8.8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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