MACROD1

mono-ADP ribosylhydrolase 1, the group of Macro domain containing

Basic information

Region (hg38): 11:63998557-64166113

Links

ENSG00000133315 ∙ NCBI:28992 ∙ OMIM:610400 ∙ HGNC:29598 ∙ Uniprot:Q9BQ69 ∙ 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 MACROD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MACROD1 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		2
missense			24			24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			90	50	20	160
Total	0	0	114	52	20

Variants in MACROD1

This is a list of pathogenic ClinVar variants found in the MACROD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-63998961-G-A		not specified	Uncertain significance (Feb 15, 2023)
11-63998968-G-A			Likely benign (Apr 01, 2022)
11-63998972-G-A		not specified	Uncertain significance (Jun 02, 2024)
11-63998997-C-T		not specified	Uncertain significance (Aug 30, 2021)
11-63999021-T-C		not specified	Uncertain significance (Jan 26, 2022)
11-63999371-A-G		not specified	Uncertain significance (May 01, 2024)
11-63999378-T-C		not specified	Likely benign (May 14, 2024)
11-63999533-A-C		not specified	Uncertain significance (Oct 12, 2021)
11-63999550-C-A		not specified	Uncertain significance (Mar 15, 2024)
11-63999559-G-A		not specified	Uncertain significance (Jan 26, 2022)
11-63999650-G-A		not specified	Uncertain significance (Feb 07, 2023)
11-63999688-T-G		not specified	Uncertain significance (Jan 31, 2024)
11-63999694-C-T		not specified	Uncertain significance (Jul 15, 2021)
11-63999755-G-A		not specified	Uncertain significance (Apr 28, 2023)
11-64000297-C-G		not specified	Uncertain significance (Oct 05, 2023)
11-64000337-C-T		not specified	Uncertain significance (Nov 27, 2023)
11-64015264-C-T		not specified	Uncertain significance (Feb 28, 2024)
11-64116299-C-A		not specified	Uncertain significance (Feb 28, 2023)
11-64116303-C-T		Peripheral neuropathy	Likely benign (Feb 11, 2020)
11-64116305-C-G		Peripheral neuropathy • not specified	Uncertain significance (Nov 06, 2023)
11-64116305-C-T		Peripheral neuropathy	Uncertain significance (Jul 19, 2022)
11-64116320-TCACGGCCACCGTTGTGATGAC-T		Peripheral neuropathy	Uncertain significance (Jun 19, 2018)
11-64116324-G-A		Peripheral neuropathy	Benign (Jul 03, 2019)
11-64116331-G-A		Peripheral neuropathy • FLRT1-related disorder	Conflicting classifications of pathogenicity (Feb 26, 2023)
11-64116353-T-A		Peripheral neuropathy	Uncertain significance (Feb 05, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MACROD1	protein_coding	protein_coding	ENST00000255681	10	167549

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.569	0.430	125727	0	19	125746	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.794	131	159	0.823	0.00000876	2017
Missense in Polyphen		59	76.201	0.77427		928
Synonymous	-1.60	87	69.9	1.24	0.00000409	660
Loss of Function	2.95	3	15.5	0.193	7.01e-7	198

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000712	0.000707
Finnish	0.000101	0.0000462
European (Non-Finnish)	0.0000477	0.0000439
Middle Eastern	0.000712	0.000707
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Removes ADP-ribose from glutamate residues in proteins bearing a single ADP-ribose moiety. Inactive towards proteins bearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, a signaling molecule generated by the deacetylation of acetylated lysine residues in histones and other proteins. Plays a role in estrogen signaling. Binds to androgen receptor (AR) and amplifies the transactivation function of AR in response to androgen. May play an important role in carcinogenesis and/or progression of hormone-dependent cancers by feed-forward mechanism that activates ESR1 transactivation. Could be an ESR1 coactivator, providing a positive feedback regulatory loop for ESR1 signal transduction. Could be involved in invasive growth by down-regulating CDH1 in endometrial cancer cells. Enhances ESR1-mediated transcription activity. {ECO:0000269|PubMed:17893710, ECO:0000269|PubMed:17914104, ECO:0000269|PubMed:19022849, ECO:0000269|PubMed:19403568, ECO:0000269|PubMed:21257746, ECO:0000269|PubMed:23474712}.
• Disease: DISEASE: Note=A chromosomal aberration involving MACROD1 is found in acute leukemia. Translocation t(11;21)(q13;q22) that forms a RUNX1-MACROD1 fusion protein. {ECO:0000269|PubMed:17532767}.

Recessive Scores

• pRec: 0.143

Haploinsufficiency Scores

• pHI: 0.143
• hipred: N
• hipred_score: 0.396
• ghis: 0.587

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.349

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Macrod1

Gene ontology

• Biological process: cellular response to DNA damage stimulus;purine nucleoside metabolic process;protein de-ADP-ribosylation
• Cellular component: nucleus;nucleoplasm
• Molecular function: protein binding;hydrolase activity, acting on glycosyl bonds;deacetylase activity