GeneBe

UBE2J1

ubiquitin conjugating enzyme E2 J1, the group of Ubiquitin conjugating enzymes E2

Basic information

Region (hg38): 6:89326625-89352722

Links

ENSG00000198833 ∙ NCBI:51465 ∙ OMIM:616175 ∙ HGNC:17598 ∙ Uniprot:Q9Y385 ∙ 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 UBE2J1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2J1 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
17
clinvar
 17
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 17 0 0

Variants in UBE2J1

This is a list of pathogenic ClinVar variants found in the UBE2J1 region.

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

Position Type Phenotype Significance ClinVar
6-89329692-T-C not specified Uncertain significance (Jan 03, 2024)3185523
6-89329759-T-C not specified Uncertain significance (Feb 06, 2023)2481149
6-89329785-T-C not specified Uncertain significance (Dec 05, 2022)2298795
6-89329806-G-A not specified Uncertain significance (Jan 23, 2023)2466246
6-89329818-T-C not specified Uncertain significance (Aug 17, 2022)2229309
6-89329820-G-C not specified Uncertain significance (Jun 27, 2023)2606597
6-89329837-T-C not specified Uncertain significance (Nov 30, 2021)2368238
6-89329860-T-A not specified Uncertain significance (Jul 20, 2021)2238952
6-89329867-C-T not specified Uncertain significance (Dec 04, 2021)2373931
6-89329870-G-A not specified Uncertain significance (Dec 11, 2023)3185522
6-89333087-G-A not specified Uncertain significance (Jun 09, 2022)2294989
6-89333133-G-T not specified Uncertain significance (Oct 03, 2022)2314886
6-89333162-A-G not specified Uncertain significance (Mar 05, 2024)3185521
6-89335377-C-A not specified Uncertain significance (Apr 09, 2024)3330557
6-89338286-A-G not specified Uncertain significance (Jul 11, 2023)2610692
6-89338467-G-A not specified Uncertain significance (Aug 02, 2021)2240400
6-89338515-T-C not specified Uncertain significance (Jan 23, 2024)3185520
6-89342430-G-A not specified Uncertain significance (Dec 17, 2023)3185519

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
UBE2J1protein_codingprotein_codingENST00000435041 826224
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.4370.5631257360121257480.0000477
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.031371750.7810.000009402056
Missense in Polyphen3265.1820.49093737
Synonymous0.2136062.10.9660.00000337614
Loss of Function3.12418.50.2160.00000103214

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005940.0000594
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.00009270.0000924
European (Non-Finnish)0.00002660.0000264
Middle Eastern0.0001090.000109
South Asian0.00009810.0000980
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Catalyzes the covalent attachment of ubiquitin to other proteins. Functions in the selective degradation of misfolded membrane proteins from the endoplasmic reticulum (ERAD). {ECO:0000255|PROSITE-ProRule:PRU00388, ECO:0000269|PubMed:12082160, ECO:0000269|PubMed:22607976}.;
Pathway
Ubiquitin mediated proteolysis - Homo sapiens (human);Protein processing in endoplasmic reticulum - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Parkin-Ubiquitin Proteasomal System pathway;Parkinsons Disease Pathway;protein ubiquitylation;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

pRec
0.130

Intolerance Scores

loftool
0.448
rvis_EVS
-0.32
rvis_percentile_EVS
31.69

Haploinsufficiency Scores

pHI
0.172
hipred
Y
hipred_score
0.644
ghis
0.611

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.539

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ube2j1
Phenotype
cellular phenotype; growth/size/body region phenotype; skeleton phenotype; limbs/digits/tail 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
spermatid development;protein ubiquitination;protein N-linked glycosylation via asparagine;ubiquitin-dependent ERAD pathway;regulation of tumor necrosis factor biosynthetic process;negative regulation of retrograde protein transport, ER to cytosol
Cellular component
endoplasmic reticulum membrane;integral component of membrane
Molecular function
ATP binding;ubiquitin protein ligase binding;ubiquitin conjugating enzyme activity