MACO1

macoilin 1

Basic information

Region (hg38): 1:25430858-25500209

Previous symbols: [ "TMEM57" ]

Links

ENSG00000204178 ∙ NCBI:55219 ∙ OMIM:610301 ∙ HGNC:25572 ∙ Uniprot:Q8N5G2 ∙ 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 MACO1 gene.

• not_specified (47 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MACO1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018202.6. 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			47			47
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MACO1	protein_coding	protein_coding	ENST00000374343	11	69313

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00243	125740	0	7	125747	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.13	192	359	0.535	0.0000190	4387
Missense in Polyphen		52	131.25	0.39618		1668
Synonymous	-0.559	146	138	1.06	0.00000779	1209
Loss of Function	4.88	4	35.3	0.113	0.00000182	413

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000528	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of neuronal activity. {ECO:0000269|PubMed:21589894}.

Recessive Scores

• pRec: 0.124

Intolerance Scores

• rvis_EVS: -0.63
• rvis_percentile_EVS: 17.03

Haploinsufficiency Scores

• pHI: 0.797
• hipred: Y
• hipred_score: 0.728
• ghis: 0.582

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Maco1

Gene ontology

• Biological process: brain development;neuronal signal transduction
• Cellular component: nucleus;integral component of membrane;axon;rough endoplasmic reticulum membrane;nuclear membrane;neuron projection terminus;synapse
• Molecular function: molecular_function