DMRTC1

DMRT like family C1

Basic information

Region (hg38): X:72872025-72943837

Links

ENSG00000269502 ∙ NCBI:63947 ∙ OMIM:300878 ∙ HGNC:13910 ∙ Uniprot:Q5HYR2 ∙ 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 DMRTC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMRTC1 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			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in DMRTC1

This is a list of pathogenic ClinVar variants found in the DMRTC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-72872519-C-T		not specified	Uncertain significance (Sep 01, 2024)
X-72872538-G-A		not specified	Uncertain significance (Jun 17, 2024)
X-72873902-G-A		not specified	Uncertain significance (Oct 16, 2024)
X-72874871-C-A		not specified	Uncertain significance (Apr 30, 2023)
X-72874949-G-T		not specified	Uncertain significance (Nov 10, 2022)
X-72875278-C-T		not specified	Uncertain significance (Oct 30, 2023)
X-72875316-T-C		not specified	Uncertain significance (Jan 17, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0529

Haploinsufficiency Scores

• pHI: 0.0443
• hipred: N
• hipred_score: 0.139
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dmrtc1a

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