QRICH1

glutamine rich 1, the group of Caspase recruitment domain containing

Basic information

Region (hg38): 3:49029707-49094363

Links

ENSG00000198218 ∙ NCBI:54870 ∙ OMIM:617387 ∙ HGNC:24713 ∙ Uniprot:Q2TAL8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ververi-Brady syndrome	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Musculoskeletal; Neurologic	28692176; 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	14	1	16
missense		14	115	1	1	131
nonsense	18	4	1			23
start loss	1					1
frameshift	21	8	5			34
splice donor/acceptor (+/-2bp)	2	3	1			6
Total	42	29	123	15	2

Highest pathogenic variant AF is 0.00000139448

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
QRICH1	protein_coding	protein_coding	ENST00000395443	9	64657

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.996	0.00424	125741	0	6	125747	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.71	211	427	0.495	0.0000230	5050
Missense in Polyphen		38	101.39	0.37478		1229
Synonymous	-0.470	178	170	1.05	0.00000962	1566
Loss of Function	4.98	5	38.2	0.131	0.00000188	388

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000910	0.0000910
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000552	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000266	0.0000264
Middle Eastern	0.0000552	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

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

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

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