GeneBe

QKI

QKI, KH domain containing RNA binding

Basic information

Region (hg38): 6:163413999-163578592

Links

ENSG00000112531 ∙ NCBI:9444 ∙ OMIM:609590 ∙ HGNC:21100 ∙ Uniprot:Q96PU8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • intellectual disability, autosomal dominant 40 (Limited), mode of inheritance: AD

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the QKI 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
5
clinvar
 5
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
 1
non coding
1
clinvar
 1
Total 0 0 5 0 1

Variants in QKI

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

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

Position Type Phenotype Significance ClinVar
6-163415344-C-T Benign (Jul 20, 2021)1304417
6-163478762-CT-C Benign (Nov 02, 2020)1268438
6-163478847-G-C not specified Uncertain significance (Oct 05, 2022)2210061
6-163562060-A-G not specified Uncertain significance (Jan 04, 2022)2409854
6-163563479-C-T not specified Uncertain significance (Aug 16, 2022)2307531
6-163563503-G-T not specified Uncertain significance (Mar 25, 2024)3311925
6-163566742-G-A not specified Uncertain significance (Jun 02, 2023)2555404
6-163570697-C-G not specified Uncertain significance (Oct 02, 2023)3150297

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
QKIprotein_codingprotein_codingENST00000361752 8164597
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.7510.24912561701151257320.000457
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.02771960.3930.00001022210
Missense in Polyphen2069.230.28889815
Synonymous-0.9228373.01.140.00000419673
Loss of Function3.24317.70.1699.90e-7209

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001540.00139
Ashkenazi Jewish0.002200.00119
East Asian0.0001250.000109
Finnish0.0005750.000323
European (Non-Finnish)0.0009010.000484
Middle Eastern0.0001250.000109
South Asian0.0005710.000294
Other0.001770.000978

dbNSFP

Source: dbNSFP

Function
FUNCTION: RNA-binding protein that plays a central role in myelinization (PubMed:16641098). Binds to the 5'-NACUAAY-N(1,20)- UAAY-3' RNA core sequence. Regulates target mRNA stability (PubMed:23630077). In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia (PubMed:16641098). Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity). {ECO:0000250|UniProtKB:Q9QYS9, ECO:0000269|PubMed:16641098, ECO:0000269|PubMed:23630077}.;
Pathway
Exercise-induced Circadian Regulation;Disease;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction (Consensus)

Recessive Scores

pRec
0.198

Intolerance Scores

loftool
0.0249
rvis_EVS
-0.23
rvis_percentile_EVS
36.86

Haploinsufficiency Scores

pHI
0.286
hipred
Y
hipred_score
0.825
ghis
0.639

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.914

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Qk
Phenotype
behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system 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); limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;

Zebrafish Information Network

Gene name
qkia
Affected structure
fast muscle cell
Phenotype tag
abnormal
Phenotype quality
immature

Gene ontology

Biological process
mRNA processing;regulation of translation;multicellular organism development;RNA splicing;cell differentiation;mRNA transport
Cellular component
nucleus;cytoplasm
Molecular function
RNA binding;protein binding;SH3 domain binding