IQCH

IQ motif containing H

Basic information

Region (hg38): 15:67254786-67502260

Links

ENSG00000103599NCBI:64799OMIM:612523HGNC:25721Uniprot:Q86VS3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
clinvar
4
missense
107
clinvar
16
clinvar
123
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 107 18 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IQCHprotein_codingprotein_codingENST00000335894 21247461
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.09e-210.19712536623801257480.00152
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7725055560.9080.00002876755
Missense in Polyphen167206.180.809962585
Synonymous1.251862090.8900.00001151946
Loss of Function1.684053.20.7520.00000265643

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004090.00402
Ashkenazi Jewish0.001490.00149
East Asian0.004890.00480
Finnish0.00009250.0000924
European (Non-Finnish)0.0009020.000897
Middle Eastern0.004890.00480
South Asian0.002760.00268
Other0.001150.00114

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Iqch
Phenotype

Gene ontology

Biological process
biological_process
Cellular component
cellular_component
Molecular function
molecular_function