KIAA1614

protein-coding

KIAA1614

Gene summary

Predicted to be involved in centrosome cycle; establishment or maintenance of cell polarity; and regulation of cellular localization. Predicted to be active in apical plasma membrane; cell cortex; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_020950.2

Inheritance

—

ClinVar variants

U:216B:19

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr1:180,912,897-180,951,614

External References & Databases

Ensembl (ENSG00000135835)

Transcript & Mutation Effects

hg38 • Region Span ~38.7 kb

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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 KIAA1614 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 222

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020950.2. 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			2 clinvar	3 clinvar		5
missense			211 clinvar	15 clinvar	1 clinvar	227
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	216	18	1	235

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020950.2	RefSeq	NP_066001.1	9	MANE Select
ENST00000367588.9	Ensembl	ENSP00000356560.4	9	MANE Select
NM_001427641.1	RefSeq	NP_001414570.1	10	Standard
ENST00000367587.1	Ensembl	ENSP00000356559.1	6	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000367588
Coding exons: 9
Length: 38461
Individuals with no LoFs: 124661
Homozygous LoFs: 0
Heterozygous LoFs: 134
Defined: 124795
p: 0.000537

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.534	654	694	0.943	0.0000434	7495
Missense (PolyPhen)		136	169.7	0.80142		2005
Synonymous	0.766	290	307	0.944	0.0000202	2657
Loss of Function	1.56	29	39.6	0.732	0.00000218	427

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00014	0.00013	rare
Latino/Admixed American	0.00066	0.00064	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00017	0.00017	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00086	0.00079	rare
South Asian	0.00041	0.00039	rare
Other	0.00072	0.00066	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.890
RVIS EVS: 0.88
RVIS percentile EVS: 88.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0594

Gene Damage Prediction

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