DACH1

dachshund family transcription factor 1

Basic information

Region (hg38): 13:71437965-71867204

Previous symbols: [ "DACH" ]

Links

ENSG00000276644 ∙ NCBI:1602 ∙ OMIM:603803 ∙ HGNC:2663 ∙ Uniprot:Q9UI36 ∙ 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 DACH1 gene.

• Inborn genetic diseases (20 variants)
• not provided (3 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DACH1 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			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding			1			1
Total	0	0	21	0	1

Variants in DACH1

This is a list of pathogenic ClinVar variants found in the DACH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-71440659-T-C		not specified	Uncertain significance (Jan 18, 2022)
13-71475847-T-C		not specified	Uncertain significance (May 18, 2023)
13-71479234-A-C		not specified	Uncertain significance (Nov 30, 2022)
13-71488991-G-A		not specified	Conflicting classifications of pathogenicity (Jan 01, 2023)
13-71489021-G-C		not specified	Uncertain significance (Oct 26, 2021)
13-71489023-T-C		not specified	Uncertain significance (Oct 25, 2023)
13-71489122-C-T		not specified	Uncertain significance (Aug 15, 2023)
13-71557032-A-G		not specified	Uncertain significance (Jan 30, 2024)
13-71557102-C-T		not specified	Uncertain significance (Dec 31, 2023)
13-71559865-C-T		not specified	Uncertain significance (Sep 26, 2023)
13-71559949-C-A		not specified	Uncertain significance (May 04, 2022)
13-71559951-C-T		not specified	Uncertain significance (May 27, 2022)
13-71630557-G-C			Benign (Aug 13, 2018)
13-71630670-T-C		not specified	Uncertain significance (Nov 08, 2022)
13-71681801-G-A		not specified	Uncertain significance (Sep 19, 2022)
13-71681873-C-T		not specified	Uncertain significance (Dec 07, 2021)
13-71866201-A-G		not specified	Uncertain significance (Mar 22, 2023)
13-71866207-C-T			Uncertain significance (Oct 13, 2022)
13-71866243-G-T		not specified	Uncertain significance (Dec 19, 2023)
13-71866246-G-A		not specified	Uncertain significance (Aug 17, 2021)
13-71866350-G-C		not specified	Uncertain significance (May 03, 2023)
13-71866423-C-G		not specified	Uncertain significance (Aug 30, 2021)
13-71866432-T-G		not specified	Uncertain significance (Mar 29, 2023)
13-71866444-G-A		not specified	Uncertain significance (Jan 24, 2024)
13-71866448-G-C		not specified	Uncertain significance (Nov 14, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator of SIX1, SIX6 and probably SIX5. Corepression of precursor cell proliferation in myoblasts by SIX1 is switched to coactivation through recruitment of EYA3 to the SIX1-DACH1 complex. Transcriptional activation seems also to involve association of CREBBP. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin- dependent kinase inhibitors, including the p27Kip1 promoter (By similarity). Inhibits TGF-beta signaling through interaction with SMAD4 and NCOR1. Binds to chromatin DNA via its DACHbox-N domain (By similarity). {ECO:0000250, ECO:0000269|PubMed:14525983}.

Recessive Scores

• pRec: 0.186

Intolerance Scores

• loftool: 0.0471
• rvis_EVS: -0.98
• rvis_percentile_EVS: 8.75

Haploinsufficiency Scores

• pHI: 0.977
• hipred: Y
• hipred_score: 0.673

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.546

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dach1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;suckling behavior;regulation of transcription, DNA-templated;transcription by RNA polymerase II;respiratory gaseous exchange;cell population proliferation;negative regulation of transcription by competitive promoter binding;negative regulation of cell migration;regulation of nuclear cell cycle DNA replication;negative regulation of transcription, DNA-templated;development of primary female sexual characteristics;negative regulation of fibroblast proliferation;negative regulation of cell proliferation involved in contact inhibition;negative regulation of DNA biosynthetic process
• Cellular component: nucleus;transcription factor complex;cytoplasm
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription repressor activity, RNA polymerase II-specific;protein binding