DQX1

DEAQ-box RNA dependent ATPase 1

Basic information

Region (hg38): 2:74518131-74526281

Links

ENSG00000144045 ∙ NCBI:165545 ∙ ∙ HGNC:20410 ∙ Uniprot:Q8TE96 ∙ 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 DQX1 gene.

• not_specified (78 variants)
• Fetal_akinesia_deformation_sequence_1 (1 variants)
• Arthrogryposis_multiplex_congenita (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DQX1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000133637.3. 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						0
missense			75	4		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DQX1	protein_coding	protein_coding	ENST00000404568	11	8206

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.00e-20	0.0207	125479	3	266	125748	0.00107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.812	347	392	0.885	0.0000209	4563
Missense in Polyphen		93	124.18	0.74889		1485
Synonymous	0.876	144	158	0.911	0.00000780	1556
Loss of Function	0.836	33	38.6	0.855	0.00000275	371

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00175	0.00175
Ashkenazi Jewish	0.00661	0.00637
East Asian	0.000272	0.000272
Finnish	0.000416	0.000416
European (Non-Finnish)	0.000971	0.000967
Middle Eastern	0.000272	0.000272
South Asian	0.000784	0.000784
Other	0.00164	0.00163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0853

Intolerance Scores

• loftool: 0.953
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.45

Haploinsufficiency Scores

• pHI: 0.226
• hipred: N
• hipred_score: 0.208
• ghis: 0.448

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.194

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dqx1

Gene ontology

• Cellular component: nucleus
• Molecular function: RNA binding;ATP binding;ATP-dependent 3'-5' RNA helicase activity