DMRTA1

DMRT like family A1

Basic information

Region (hg38): 9:22446824-22455740

Links

ENSG00000176399 ∙ NCBI:63951 ∙ OMIM:614803 ∙ HGNC:13826 ∙ Uniprot:Q5VZB9 ∙ 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 DMRTA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMRTA1 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					1	1
missense			33	3	1	37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	3	2

Variants in DMRTA1

This is a list of pathogenic ClinVar variants found in the DMRTA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-22447072-C-T			Likely benign (Aug 01, 2018)
9-22447123-G-A		not specified	Uncertain significance (Jan 02, 2024)
9-22447145-C-T		not specified	Uncertain significance (Jun 30, 2022)
9-22447159-T-C		not specified	Uncertain significance (Jun 10, 2022)
9-22447184-G-A		not specified	Uncertain significance (Oct 26, 2021)
9-22447184-G-C			Benign (Aug 02, 2017)
9-22447193-T-A		not specified	Uncertain significance (Oct 25, 2024)
9-22447195-C-T		not specified	Uncertain significance (Jan 04, 2022)
9-22447220-G-C		not specified	Uncertain significance (Jun 06, 2023)
9-22447267-A-G		not specified	Uncertain significance (Aug 01, 2024)
9-22447288-C-A		not specified	Uncertain significance (Jun 09, 2022)
9-22447309-A-G		not specified	Uncertain significance (Nov 15, 2024)
9-22447340-C-T		not specified	Uncertain significance (Dec 18, 2023)
9-22447346-C-T		not specified	Uncertain significance (Mar 18, 2024)
9-22447391-T-G		not specified	Uncertain significance (Aug 02, 2021)
9-22447421-G-C		not specified	Uncertain significance (Dec 14, 2021)
9-22447423-G-A		not specified	Uncertain significance (Nov 17, 2022)
9-22447445-C-T		not specified	Uncertain significance (Jun 24, 2022)
9-22447477-G-A		not specified	Uncertain significance (Jul 14, 2023)
9-22447487-C-T		not specified	Uncertain significance (Feb 06, 2024)
9-22447522-G-T		not specified	Uncertain significance (Mar 24, 2023)
9-22447532-T-C		not specified	Uncertain significance (Nov 08, 2024)
9-22447573-G-A		not specified	Uncertain significance (Nov 12, 2021)
9-22447594-G-A		not specified	Likely benign (Jan 31, 2022)
9-22447621-G-A		not specified	Likely benign (Jul 22, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMRTA1	protein_coding	protein_coding	ENST00000325870	2	8900

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000637	0.718	125710	0	37	125747	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.18	307	254	1.21	0.0000124	3130
Missense in Polyphen		79	64.195	1.2306		830
Synonymous	-1.63	130	108	1.20	0.00000553	1114
Loss of Function	1.10	10	14.5	0.688	6.38e-7	195

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000149
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000624	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000222	0.000220
Middle Eastern	0.0000624	0.0000544
South Asian	0.000168	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.119

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.177
• ghis: 0.453

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.113

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dmrta1
• Phenotype: endocrine/exocrine gland phenotype; reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: ovarian follicle development;regulation of transcription by RNA polymerase II;male mating behavior
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;protein homodimerization activity;sequence-specific DNA binding;metal ion binding