DAAM1

dishevelled associated activator of morphogenesis 1, the group of Formins|Armadillo like helical domain containing

Basic information

Region (hg38): 14:59188645-59371405

Links

ENSG00000100592 ∙ NCBI:23002 ∙ OMIM:606626 ∙ HGNC:18142 ∙ Uniprot:Q9Y4D1 ∙ 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 DAAM1 gene.

• Inborn genetic diseases (30 variants)
• not provided (9 variants)
• not specified (2 variants)
• DAAM1-related condition (1 variants)
• Seizure (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAAM1 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				2	5	7
missense			30		1	31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	30	2	7

Variants in DAAM1

This is a list of pathogenic ClinVar variants found in the DAAM1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-59263501-A-G		DAAM1-related disorder	Likely benign (Aug 30, 2023)
14-59263517-A-G		not specified	Uncertain significance (May 05, 2023)
14-59263624-T-C		DAAM1-related disorder	Benign (Dec 31, 2019)
14-59315286-G-A		not specified	Uncertain significance (Jan 16, 2024)
14-59320544-A-G		Seizure • not specified	Conflicting classifications of pathogenicity (Nov 29, 2023)
14-59322911-G-A		not specified	Uncertain significance (Dec 01, 2022)
14-59322921-G-A		not specified	Uncertain significance (Sep 13, 2023)
14-59322960-A-G		not specified	Uncertain significance (Feb 21, 2024)
14-59322962-G-A		not specified	Uncertain significance (Oct 05, 2021)
14-59322978-G-A		not specified	Uncertain significance (Mar 02, 2023)
14-59323009-G-A		DAAM1-related disorder	Benign (Oct 31, 2019)
14-59323139-G-A		not specified	Uncertain significance (May 08, 2023)
14-59323174-G-T		DAAM1-related disorder	Benign (Oct 30, 2019)
14-59324441-T-C		not specified	Uncertain significance (Sep 01, 2021)
14-59326037-G-A		DAAM1-related disorder	Benign (Dec 31, 2019)
14-59326535-G-T		not specified	Uncertain significance (Jan 23, 2024)
14-59326555-G-T		not specified	Uncertain significance (Dec 13, 2021)
14-59326641-G-A		not specified	Uncertain significance (Oct 03, 2022)
14-59326645-G-T		not specified	Uncertain significance (Aug 04, 2023)
14-59326973-G-A		not specified	Uncertain significance (Jun 23, 2023)
14-59330495-G-A		DAAM1-related disorder	Benign (Oct 30, 2019)
14-59330517-A-G		DAAM1-related disorder	Benign (Oct 29, 2019)
14-59330531-A-G		not specified	Uncertain significance (May 09, 2023)
14-59330542-G-A		not specified	Uncertain significance (Dec 03, 2021)
14-59330655-G-A		DAAM1-related disorder	Benign (Oct 30, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAAM1	protein_coding	protein_coding	ENST00000395125	25	182760

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000825	125730	0	18	125748	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.84	459	584	0.786	0.0000315	7171
Missense in Polyphen		105	132.27	0.79381		1646
Synonymous	1.08	186	206	0.904	0.0000115	1947
Loss of Function	6.12	9	60.2	0.149	0.00000346	704

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000906	0.0000905
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.0000545	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000881	0.0000879
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000327	0.0000327
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to disheveled (Dvl) and Rho, and mediates Wnt- induced Dvl-Rho complex formation. May play a role as a scaffolding protein to recruit Rho-GDP and Rho-GEF, thereby enhancing Rho-GTP formation. Can direct nucleation and elongation of new actin filaments. Involved in building functional cilia (PubMed:16630611, PubMed:17482208). Involved in the organization of the subapical actin network in multiciliated epithelial cells (By similarity). Together with DAAM2, required for myocardial maturation and sarcomere assembly (By similarity). {ECO:0000250|UniProtKB:B0DOB5, ECO:0000250|UniProtKB:Q8BPM0, ECO:0000269|PubMed:16630611, ECO:0000269|PubMed:17482208}.
• Pathway: Wnt signaling pathway - Homo sapiens (human);Association Between Physico-Chemical Features and Toxicity Associated Pathways;Wnt Signaling Pathway;Signaling by WNT;Signal Transduction;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;PCP/CE pathway;Beta-catenin independent WNT signaling;Noncanonical Wnt signaling pathway;Wnt (Consensus)

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.0831
• rvis_EVS: -1.55
• rvis_percentile_EVS: 3.25

Haploinsufficiency Scores

• pHI: 0.804
• hipred: Y
• hipred_score: 0.696
• ghis: 0.619

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.442

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Daam1
• Phenotype: embryo phenotype; growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: daam1a
• Affected structure: interpeduncular nucleus tegmentum
• Phenotype tag: abnormal
• Phenotype quality: process quality

Gene ontology

• Biological process: actin cytoskeleton organization;Wnt signaling pathway, planar cell polarity pathway
• Cellular component: stress fiber;cytosol;plasma membrane;membrane;motile cilium;ciliary basal body
• Molecular function: actin binding;protein binding;Rho GTPase binding;identical protein binding