IQCK

protein-coding

IQ motif containing K

Gene summary

This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

MANE transcript

NM_153208.3

Inheritance

—

ClinVar variants

U:52B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.69

Max pathogenic AF

—

Genomic locus

chr16:19,716,456-19,858,467

External References & Databases

Ensembl (ENSG00000174628)

Transcript & Mutation Effects

hg38 • Region Span ~142.0 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 IQCK variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 50

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153208.3. 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						0
missense			49 clinvar	4 clinvar		53
nonsense			1 clinvar			1
start loss					1 clinvar	1
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	52	4	1	57

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153208.3	RefSeq	NP_694940.1	9	MANE Select
ENST00000695302.1	Ensembl	ENSP00000511791.1	9	MANE Select
NM_001305121.3	RefSeq	NP_001292050.1	7	Standard
NM_001305122.3	RefSeq	NP_001292051.1	8	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
iqck	Danio rerio	Structure: ventral fin fold Quality: hypoplastic abnormal

Gene / Model

Organism

Observed Phenotype

iqck

Danio rerio

Structure: ventral fin fold

Quality: hypoplastic

abnormal

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000320394
Coding exons: 9
Length: 141130
Individuals with no LoFs: 125718
Homozygous LoFs: 0
Heterozygous LoFs: 30
Defined: 125748
p: 0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0116	163	163	1.00	0.00000875	1869
Missense (PolyPhen)		53	53.144	0.99728		618
Synonymous	0.0670	60	60.7	0.989	0.00000346	525
Loss of Function	1.14	11	15.9	0.692	6.73e-7	196

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00044	0.00043	rare
Latino/Admixed American	0.00021	0.00020	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000054	0.000053	rare
South Asian	0.00031	0.00029	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.62
RVIS percentile EVS: 83.14

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.510

Gene Damage Prediction

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