IQCF5

IQ motif containing F5

Basic information

Region (hg38): 3:51873721-51875601

Links

ENSG00000214681 ∙ NCBI:389124 ∙ ∙ HGNC:35159 ∙ Uniprot:A8MTL0 ∙ 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 IQCF5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCF5 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in IQCF5

This is a list of pathogenic ClinVar variants found in the IQCF5 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-51873802-T-A		not specified	Uncertain significance (Mar 13, 2023)
3-51873830-T-C		not specified	Uncertain significance (Dec 15, 2022)
3-51873848-A-C		not specified	Uncertain significance (Mar 04, 2024)
3-51873875-C-T		not specified	Uncertain significance (Jan 23, 2024)
3-51873897-G-A		Aganglionic megacolon	Uncertain significance (May 16, 2019)
3-51873903-C-T		not specified	Uncertain significance (Jan 23, 2024)
3-51873912-A-C		not specified	Uncertain significance (Nov 12, 2024)
3-51873924-G-A		not specified	Uncertain significance (Feb 27, 2023)
3-51873929-C-T		not specified	Uncertain significance (May 03, 2023)
3-51873989-T-C		not specified	Uncertain significance (May 30, 2024)
3-51874014-T-C		not specified	Uncertain significance (Jan 17, 2024)
3-51874034-A-G		not specified	Uncertain significance (Oct 02, 2023)
3-51874038-C-T		not specified	Uncertain significance (Mar 03, 2025)
3-51874062-T-C		not specified	Uncertain significance (Jul 12, 2023)
3-51874079-G-A		not specified	Uncertain significance (Apr 14, 2023)
3-51874092-T-G		not specified	Uncertain significance (Aug 13, 2021)
3-51874095-G-C		not specified	Uncertain significance (Sep 21, 2021)
3-51874097-C-A		not specified	Uncertain significance (Jan 24, 2025)
3-51874097-C-T		not specified	Uncertain significance (Oct 12, 2021)
3-51874114-C-A		not specified	Uncertain significance (Sep 17, 2021)
3-51874128-T-G		not specified	Uncertain significance (Jan 21, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IQCF5	protein_coding	protein_coding	ENST00000446461	2	1864

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0116	0.856	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.700	71	89.7	0.792	0.00000564	943
Missense in Polyphen		27	30.486	0.88564		283
Synonymous	0.992	22	28.8	0.765	0.00000135	277
Loss of Function	1.23	4	7.68	0.521	4.19e-7	63

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: 0.64
• rvis_percentile_EVS: 83.63

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0343

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iqcf5

Gene ontology

• Molecular function: calmodulin binding