QRICH1

glutamine rich 1, the group of Caspase recruitment domain containing

Basic information

Region (hg38): 3:49029707-49094363

Links

ENSG00000198218NCBI:54870OMIM:617387HGNC:24713Uniprot:Q2TAL8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown
  • Ververi-Brady syndrome (Moderate), mode of inheritance: AD
  • Ververi-Brady syndrome (Definitive), mode of inheritance: AD
  • Ververi-Brady syndrome (Strong), mode of inheritance: AD
  • syndromic intellectual disability (Definitive), mode of inheritance: AD
  • Ververi-Brady syndrome (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Ververi-Brady syndromeADGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingCraniofacial; Musculoskeletal; Neurologic28692176; 30281152

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the QRICH1 gene.

  • not_provided (89 variants)
  • Ververi-Brady_syndrome (75 variants)
  • Inborn_genetic_diseases (52 variants)
  • QRICH1-related_disorder (14 variants)
  • not_specified (4 variants)
  • Intellectual_disability (3 variants)
  • Intellectual_disability,_mild (1 variants)
  • Autism_spectrum_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the QRICH1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198880.3. 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
1
clinvar
14
clinvar
1
clinvar
16
missense
14
clinvar
115
clinvar
1
clinvar
1
clinvar
131
nonsense
18
clinvar
4
clinvar
1
clinvar
23
start loss
1
1
frameshift
21
clinvar
8
clinvar
5
clinvar
34
splice donor/acceptor (+/-2bp)
2
clinvar
3
clinvar
1
clinvar
6
Total 42 29 123 15 2

Highest pathogenic variant AF is 0.00000139448

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
QRICH1protein_codingprotein_codingENST00000395443 964657
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9960.00424125741061257470.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.712114270.4950.00002305050
Missense in Polyphen38101.390.374781229
Synonymous-0.4701781701.050.000009621566
Loss of Function4.98538.20.1310.00000188388

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009100.0000910
Ashkenazi Jewish0.000.00
East Asian0.00005520.0000544
Finnish0.000.00
European (Non-Finnish)0.00002660.0000264
Middle Eastern0.00005520.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0751

Intolerance Scores

loftool
0.0214
rvis_EVS
-0.47
rvis_percentile_EVS
23.25

Haploinsufficiency Scores

pHI
0.306
hipred
Y
hipred_score
0.673
ghis
0.572

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
K
gene_indispensability_pred
E
gene_indispensability_score
0.754

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Qrich1
Phenotype
cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; digestive/alimentary phenotype; renal/urinary system phenotype; immune system phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; craniofacial phenotype;

Gene ontology

Biological process
regulation of transcription by RNA polymerase II;biological_process;regulation of cell morphogenesis
Cellular component
cellular_component;nucleus;nucleoplasm
Molecular function
DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;protein binding