IQCH

IQ motif containing H

Basic information

Region (hg38): 15:67254786-67502260

Links

ENSG00000103599 ∙ NCBI:64799 ∙ OMIM:612523 ∙ HGNC:25721 ∙ Uniprot:Q86VS3 ∙ 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 IQCH gene.

• not_specified (121 variants)
• not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IQCH gene is commonly pathogenic or not. These statistics are base on transcript: NM_001031715.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	2	4
missense			107	16		123
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	107	18	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IQCH	protein_coding	protein_coding	ENST00000335894	21	247461

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.09e-21	0.197	125366	2	380	125748	0.00152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.772	505	556	0.908	0.0000287	6755
Missense in Polyphen		167	206.18	0.80996		2585
Synonymous	1.25	186	209	0.890	0.0000115	1946
Loss of Function	1.68	40	53.2	0.752	0.00000265	643

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00409	0.00402
Ashkenazi Jewish	0.00149	0.00149
East Asian	0.00489	0.00480
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000902	0.000897
Middle Eastern	0.00489	0.00480
South Asian	0.00276	0.00268
Other	0.00115	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a regulatory role in spermatogenesis. {ECO:0000269|PubMed:15897968}.

Intolerance Scores

• loftool: 0.631
• rvis_EVS: -0.42
• rvis_percentile_EVS: 25.84

Haploinsufficiency Scores

• pHI: 0.367
• hipred: N
• hipred_score: 0.169
• ghis: 0.385

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.353

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Iqch

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function