DMRTB1

DMRT like family B with proline rich C-terminal 1

Basic information

Region (hg38): 1:53459398-53467488

Links

ENSG00000143006 ∙ NCBI:63948 ∙ OMIM:614805 ∙ HGNC:13913 ∙ Uniprot:Q96MA1 ∙ 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 DMRTB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMRTB1 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			32	3		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	3	0

Variants in DMRTB1

This is a list of pathogenic ClinVar variants found in the DMRTB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-53459598-A-T		not specified	Uncertain significance (May 20, 2024)
1-53459603-G-A		not specified	Uncertain significance (Apr 05, 2023)
1-53459605-C-T		not specified	Uncertain significance (Sep 14, 2021)
1-53459620-T-G		not specified	Uncertain significance (May 01, 2024)
1-53459649-G-A		not specified	Uncertain significance (Feb 28, 2023)
1-53459677-A-G		not specified	Uncertain significance (Jan 17, 2024)
1-53459688-G-A		not specified	Uncertain significance (May 05, 2023)
1-53459703-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-53459709-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-53459715-G-A		not specified	Uncertain significance (Nov 09, 2021)
1-53459715-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-53459721-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-53459722-T-C		not specified	Likely benign (Oct 12, 2021)
1-53459735-C-A		not specified	Uncertain significance (Feb 12, 2024)
1-53459739-C-T		not specified	Likely benign (Mar 29, 2022)
1-53459766-G-A		not specified	Uncertain significance (Aug 02, 2023)
1-53459817-C-A		not specified	Uncertain significance (Feb 28, 2023)
1-53459817-C-G		not specified	Uncertain significance (Jul 26, 2022)
1-53459837-C-A		not specified	Uncertain significance (Dec 14, 2022)
1-53459862-G-A		not specified	Uncertain significance (Jun 07, 2024)
1-53459869-G-A		not specified	Uncertain significance (Oct 12, 2021)
1-53459974-C-T		not specified	Uncertain significance (Nov 10, 2022)
1-53459986-G-A		not specified	Uncertain significance (Sep 16, 2021)
1-53460010-G-A		not specified	Uncertain significance (Apr 23, 2024)
1-53461494-C-T		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMRTB1	protein_coding	protein_coding	ENST00000371445	4	8090

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.829	0.171	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.06	165	208	0.793	0.0000148	2131
Missense in Polyphen		35	48.533	0.72116		489
Synonymous	0.443	98	104	0.945	0.00000868	748
Loss of Function	2.67	1	10.2	0.0982	4.93e-7	117

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0983

Haploinsufficiency Scores

• pHI: 0.419
• hipred: N
• hipred_score: 0.318
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.705

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dmrtb1
• Phenotype: endocrine/exocrine gland phenotype; cellular phenotype; reproductive system phenotype

Gene ontology

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