IQCF6

IQ motif containing F6

Basic information

Region (hg38): 3:51778561-51779241

Links

ENSG00000214686 ∙ NCBI:440956 ∙ ∙ HGNC:35158 ∙ Uniprot:A8MYZ5 ∙ 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 IQCF6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCF6 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in IQCF6

This is a list of pathogenic ClinVar variants found in the IQCF6 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-51778640-C-T		not specified	Uncertain significance (Oct 04, 2022)
3-51778658-G-A		not specified	Uncertain significance (Aug 20, 2024)
3-51778673-C-G		not specified	Uncertain significance (Mar 30, 2024)
3-51778685-G-C		not specified	Uncertain significance (Dec 15, 2022)
3-51778715-A-G		not specified	Uncertain significance (Feb 15, 2023)
3-51778750-C-T		not specified	Uncertain significance (Nov 18, 2022)
3-51778751-G-A		not specified	Uncertain significance (Jun 26, 2023)
3-51778813-G-A		not specified	Uncertain significance (Aug 01, 2024)
3-51778819-T-C		not specified	Uncertain significance (Jun 29, 2023)
3-51778828-G-T		not specified	Uncertain significance (Dec 26, 2023)
3-51778853-G-A		not specified	Uncertain significance (Aug 02, 2022)
3-51778913-T-C		not specified	Uncertain significance (Oct 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IQCF6	protein_coding	protein_coding	ENST00000398780	1	430

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00774	0.795	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.677	56	72.2	0.776	0.00000498	673
Missense in Polyphen		15	27.151	0.55246		234
Synonymous	1.78	14	25.4	0.551	0.00000141	217
Loss of Function	0.996	4	6.80	0.588	4.47e-7	45

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.81
• rvis_percentile_EVS: 87.76

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0366

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iqcf6

Gene ontology

• Molecular function: calmodulin binding