ADRM1

ADRM1 26S proteasome ubiquitin receptor, the group of Proteasome

Basic information

Region (hg38): 20:62302092-62308862

Links

ENSG00000130706 ∙ NCBI:11047 ∙ OMIM:610650 ∙ HGNC:15759 ∙ Uniprot:Q16186 ∙ 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 ADRM1 gene.

• Inborn genetic diseases (11 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADRM1 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					3	3
missense			11		2	13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	5

Variants in ADRM1

This is a list of pathogenic ClinVar variants found in the ADRM1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-62303665-C-A		not specified	Uncertain significance (Apr 13, 2022)
20-62303727-C-G			Benign (Apr 04, 2018)
20-62303772-C-A		not specified	Uncertain significance (Feb 13, 2024)
20-62306224-C-T		not specified	Uncertain significance (Sep 23, 2023)
20-62306242-G-A		not specified	Uncertain significance (Dec 21, 2022)
20-62306719-G-A		not specified	Uncertain significance (Jun 07, 2023)
20-62307409-T-A		not specified	Uncertain significance (Mar 14, 2023)
20-62307625-C-A		Malignant tumor of prostate	Uncertain significance (-)
20-62307640-C-T		not specified	Uncertain significance (May 17, 2023)
20-62307646-C-T		not specified	Uncertain significance (Jul 12, 2023)
20-62307707-G-A			Benign (May 08, 2018)
20-62307770-C-T			Benign (Apr 09, 2018)
20-62307790-C-T		not specified	Uncertain significance (Jun 07, 2023)
20-62307811-C-T		not specified	Uncertain significance (Jan 16, 2024)
20-62308045-C-T		not specified	Uncertain significance (May 08, 2023)
20-62308109-A-G			Benign (Jul 20, 2018)
20-62308134-G-A		not specified	Uncertain significance (Nov 27, 2023)
20-62308135-C-T			Benign (Jul 31, 2018)
20-62308711-G-A		not specified	Uncertain significance (Dec 03, 2021)
20-62308736-A-G		not specified	Uncertain significance (Nov 07, 2022)
20-62308747-A-G		not specified	Uncertain significance (Jun 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADRM1	protein_coding	protein_coding	ENST00000253003	9	6770

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00296	118740	37	1313	120090	0.00564

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.38	197	259	0.759	0.0000157	2616
Missense in Polyphen		23	54.204	0.42432		596
Synonymous	-0.743	132	122	1.09	0.00000891	842
Loss of Function	3.83	0	17.1	0.00	7.37e-7	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0439	0.0438
Ashkenazi Jewish	0.00	0.00
East Asian	0.000120	0.000112
Finnish	0.00	0.00
European (Non-Finnish)	0.0000203	0.0000186
Middle Eastern	0.000120	0.000112
South Asian	0.0000360	0.0000335
Other	0.00350	0.00308

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Within the complex, functions as a proteasomal ubiquitin receptor. Engages and activates 19S-associated deubiquitinases UCHL5 and PSMD14 during protein degradation. UCHL5 reversibly associate with the 19S regulatory particle whereas PSMD14 is an intrinsic subunit of the proteasome lid subcomplex. {ECO:0000269|PubMed:16815440, ECO:0000269|PubMed:16906146, ECO:0000269|PubMed:16990800, ECO:0000269|PubMed:17139257, ECO:0000269|PubMed:18497817, ECO:0000269|PubMed:24752541, ECO:0000269|PubMed:25702870, ECO:0000269|PubMed:25702872}.
• Pathway: Epstein-Barr virus infection - Homo sapiens (human);Proteasome - Homo sapiens (human);Post-translational protein modification;Metabolism of proteins;UCH proteinases;Ub-specific processing proteases;Deubiquitination;Validated transcriptional targets of deltaNp63 isoforms (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.85

Haploinsufficiency Scores

• pHI: 0.394
• hipred: Y
• hipred_score: 0.809
• ghis: 0.478

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.967

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adrm1
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; reproductive system phenotype; 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)

Gene ontology

• Biological process: transcription elongation from RNA polymerase II promoter;ubiquitin-dependent protein catabolic process;positive regulation of endopeptidase activity;protein deubiquitination;proteasome assembly
• Cellular component: proteasome complex;nucleoplasm;cytosol;plasma membrane;proteasome regulatory particle, lid subcomplex
• Molecular function: protease binding;protein binding;ubiquitin binding;endopeptidase activator activity;proteasome binding