MOXD1

monooxygenase DBH like 1

Basic information

Region (hg38): 6:132296054-132401475

Links

ENSG00000079931 ∙ NCBI:26002 ∙ OMIM:609000 ∙ HGNC:21063 ∙ Uniprot:Q6UVY6 ∙ 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 MOXD1 gene.

• Inborn genetic diseases (28 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOXD1 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			28			28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	0	0

Variants in MOXD1

This is a list of pathogenic ClinVar variants found in the MOXD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-132297175-G-A		not specified	Uncertain significance (Aug 23, 2021)
6-132297302-C-A		not specified	Uncertain significance (Apr 27, 2023)
6-132297788-G-A		not specified	Uncertain significance (Sep 29, 2023)
6-132297912-G-A		not specified	Uncertain significance (Sep 14, 2022)
6-132315642-G-T		not specified	Uncertain significance (Aug 08, 2023)
6-132315666-T-A		not specified	Uncertain significance (May 17, 2023)
6-132315710-G-A		not specified	Uncertain significance (Jun 03, 2022)
6-132315722-C-A		not specified	Uncertain significance (Aug 08, 2023)
6-132315738-G-T		not specified	Uncertain significance (Jan 27, 2022)
6-132315746-A-T		not specified	Uncertain significance (Jun 05, 2023)
6-132315767-C-T		not specified	Uncertain significance (Aug 02, 2023)
6-132320657-T-C		not specified	Uncertain significance (Jun 02, 2023)
6-132320664-G-A		not specified	Uncertain significance (Jul 11, 2023)
6-132322725-T-C		not specified	Uncertain significance (Nov 07, 2022)
6-132322734-A-G		not specified	Uncertain significance (Jul 25, 2023)
6-132322753-G-A		not specified	Uncertain significance (Dec 18, 2023)
6-132322776-C-T		not specified	Uncertain significance (Nov 06, 2023)
6-132322786-G-T		not specified	Uncertain significance (Jan 30, 2024)
6-132322838-A-T		not specified	Uncertain significance (Dec 17, 2023)
6-132323938-A-G		not specified	Uncertain significance (Nov 29, 2023)
6-132323951-T-A		not specified	Uncertain significance (May 13, 2022)
6-132323980-A-G		not specified	Uncertain significance (Jun 02, 2023)
6-132323987-G-A		not specified	Uncertain significance (Jun 10, 2022)
6-132324035-C-G		not specified	Uncertain significance (Jan 30, 2024)
6-132328426-T-C		not specified	Uncertain significance (Aug 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOXD1	protein_coding	protein_coding	ENST00000367963	12	105491

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.55e-22	0.000359	125601	1	146	125748	0.000585

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.542	350	323	1.08	0.0000155	4014
Missense in Polyphen		152	137.07	1.1089		1645
Synonymous	-0.131	125	123	1.01	0.00000629	1143
Loss of Function	-0.412	32	29.6	1.08	0.00000159	342

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000908	0.000907
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000110	0.000109
Finnish	0.00181	0.00180
European (Non-Finnish)	0.000627	0.000624
Middle Eastern	0.000110	0.000109
South Asian	0.000360	0.000327
Other	0.000661	0.000652

dbNSFP

Source: dbNSFP

• Pathway: Tyrosine metabolism;Pyrimidine metabolism (Consensus)

Recessive Scores

• pRec: 0.231

Intolerance Scores

• loftool: 0.817
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.46

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.350
• ghis: 0.511

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.150

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Moxd1
• Phenotype: growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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)

Gene ontology

• Biological process: octopamine biosynthetic process;dopamine catabolic process;norepinephrine biosynthetic process;oxidation-reduction process
• Cellular component: extracellular space;cytoplasm;endoplasmic reticulum membrane;integral component of membrane;secretory granule membrane
• Molecular function: dopamine beta-monooxygenase activity;copper ion binding;protein binding;oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen