MYADM

myeloid associated differentiation marker, the group of MARVEL domain containing

Basic information

Region (hg38): 19:53864763-53878125

Links

ENSG00000179820 ∙ NCBI:91663 ∙ OMIM:609959 ∙ HGNC:7544 ∙ Uniprot:Q96S97 ∙ 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 MYADM gene.

• not_specified (43 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYADM gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138373.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			43			43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYADM	protein_coding	protein_coding	ENST00000391769	1	10215

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00629	0.758	125732	0	12	125744	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.660	190	217	0.874	0.0000154	2018
Missense in Polyphen		47	66.977	0.70173		739
Synonymous	0.628	100	108	0.923	0.00000854	755
Loss of Function	0.872	4	6.38	0.627	2.82e-7	56

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.113
• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

• pHI: 0.156
• hipred: N
• hipred_score: 0.279
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.769

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myadm

Gene ontology

• Biological process: negative regulation of protein phosphorylation;negative regulation of gene expression;regulation of cell-substrate adhesion;positive regulation of cell migration;negative regulation of actin filament polymerization;membrane raft organization;negative regulation of heterotypic cell-cell adhesion;cell-cell junction maintenance;establishment of endothelial barrier;protein localization to plasma membrane;negative regulation of protein kinase C signaling;positive regulation of substrate adhesion-dependent cell spreading
• Cellular component: ruffle;plasma membrane;cell-cell junction;integral component of membrane;cortical actin cytoskeleton;membrane raft
• Molecular function: molecular_function