DMXL1

Dmx like 1, the group of WD repeat domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 5:119037772-119249138

Links

ENSG00000172869 ∙ NCBI:1657 ∙ OMIM:605671 ∙ HGNC:2937 ∙ Uniprot:Q9Y485 ∙ 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 DMXL1 gene.

• not_specified (382 variants)
• DMXL1-related_disorder (70 variants)
• not_provided (31 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMXL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001290321.3. 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				19	24	43
missense			374	18	19	411
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	374	37	43

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMXL1	protein_coding	protein_coding	ENST00000311085	43	211367

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	2.81e-9	125683	0	65	125748	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.489	1595	1.54e+3	1.03	0.0000773	19862
Missense in Polyphen		457	593.32	0.77024		7578
Synonymous	-2.73	620	539	1.15	0.0000267	5783
Loss of Function	9.39	19	138	0.138	0.00000696	1785

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000375	0.000362
Ashkenazi Jewish	0.000796	0.000794
East Asian	0.000109	0.000109
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.000327	0.000325
Middle Eastern	0.000109	0.000109
South Asian	0.000196	0.000196
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.501
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.89

Haploinsufficiency Scores

• pHI: 0.713
• hipred: Y
• hipred_score: 0.591
• ghis: 0.618

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.422

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dmxl1

Gene ontology

• Biological process: vacuolar acidification
• Cellular component: RAVE complex