IQCK

IQ motif containing K

Basic information

Region (hg38): 16:19716456-19858467

Links

ENSG00000174628 ∙ NCBI:124152 ∙ ∙ HGNC:28556 ∙ Uniprot:Q8N0W5 ∙ 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 IQCK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCK 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						0
missense			21	2		23
nonsense						0
start loss					1	1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	1

Variants in IQCK

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

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

Position	Type	Phenotype	Significance	ClinVar
16-19718307-A-C			Benign (Dec 31, 2019)
16-19718320-G-A		not specified	Uncertain significance (Jan 04, 2022)
16-19718341-T-C		not specified	Uncertain significance (Jan 11, 2023)
16-19718355-A-C		not specified	Uncertain significance (Jan 02, 2024)
16-19718398-C-T		not specified	Uncertain significance (Aug 12, 2021)
16-19730493-C-T		not specified	Uncertain significance (Oct 06, 2021)
16-19733702-C-T		not specified	Uncertain significance (Dec 04, 2023)
16-19733753-C-T		not specified	Uncertain significance (Jul 12, 2023)
16-19733780-G-A		not specified	Likely benign (Jul 26, 2022)
16-19733780-G-T		not specified	Uncertain significance (Sep 12, 2023)
16-19733786-C-A		not specified	Uncertain significance (Apr 04, 2023)
16-19733789-G-A		not specified	Uncertain significance (Jun 30, 2022)
16-19735353-G-T		not specified	Uncertain significance (Jul 19, 2023)
16-19735361-A-G		not specified	Uncertain significance (May 15, 2024)
16-19735362-A-G		not specified	Uncertain significance (Nov 07, 2022)
16-19735382-A-G		not specified	Uncertain significance (Dec 21, 2023)
16-19735403-G-A		not specified	Uncertain significance (Jul 05, 2023)
16-19763889-G-C		not specified	Uncertain significance (May 20, 2024)
16-19764081-A-C			Likely benign (May 17, 2018)
16-19788843-G-A		not specified	Uncertain significance (Jun 09, 2022)
16-19788855-C-T		not specified	Uncertain significance (Jan 18, 2023)
16-19788861-C-T		not specified	Uncertain significance (Dec 21, 2022)
16-19788888-C-T		not specified	Uncertain significance (May 31, 2023)
16-19788894-A-G		not specified	Uncertain significance (Mar 16, 2024)
16-19827057-G-A		not specified	Uncertain significance (Nov 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IQCK	protein_coding	protein_coding	ENST00000320394	9	141130

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000200	0.708	125718	0	30	125748	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0116	163	163	1.00	0.00000875	1869
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000648	0.000642
Ashkenazi Jewish	0.000105	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000541	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000311	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.14

Haploinsufficiency Scores

• pHI: 0.256
• hipred: N
• hipred_score: 0.145
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.510

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iqck

Zebrafish Information Network

• Gene name: iqck
• Affected structure: ventral fin fold
• Phenotype tag: abnormal
• Phenotype quality: hypoplastic