GeneBe

UIMC1

ubiquitin interaction motif containing 1, the group of BRCA1 A complex

Basic information

Region (hg38): 5:176905005-177022633

Links

ENSG00000087206 ∙ NCBI:51720 ∙ OMIM:609433 ∙ HGNC:30298 ∙ Uniprot:Q96RL1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UIMC1 gene.

  • not_specified (79 variants)
  • not_provided (1 variants)
  • Intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UIMC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001199298.2. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
72
clinvar
6
clinvar
 78
nonsense
0
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total 0 1 73 6 1

Highest pathogenic variant AF is 0.0000034337122

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
UIMC1protein_codingprotein_codingENST00000377227 14117629
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
8.28e-71.001257080401257480.000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7153403790.8970.00001914736
Missense in Polyphen83112.350.738761539
Synonymous-0.2421391351.030.000006911341
Loss of Function3.271739.10.4350.00000211463

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00008690.0000869
Ashkenazi Jewish0.0007940.000794
East Asian0.0003270.000326
Finnish0.00004620.0000462
European (Non-Finnish)0.0001590.000149
Middle Eastern0.0003270.000326
South Asian0.0001660.000163
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Ubiquitin-binding protein (PubMed:24627472). Specifically recognizes and binds 'Lys-63'-linked ubiquitin (PubMed:19328070, Ref.37). Plays a central role in the BRCA1-A complex by specifically binding 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than 'Lys-63'-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such results is however unclear in vivo. Does not bind Lys-48'-linked ubiquitin. May indirectly act as a transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1. {ECO:0000269|PubMed:12080054, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:17525341, ECO:0000269|PubMed:17525342, ECO:0000269|PubMed:17621610, ECO:0000269|PubMed:17643121, ECO:0000269|PubMed:19015238, ECO:0000269|PubMed:19202061, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19328070, ECO:0000269|PubMed:24627472, ECO:0000269|Ref.37}.;
Pathway
Homologous recombination - Homo sapiens (human);HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;Nonhomologous End-Joining (NHEJ);DNA Double-Strand Break Repair;Homology Directed Repair;Post-translational protein modification;Metabolism of proteins;G2/M DNA damage checkpoint;G2/M Checkpoints;Cell Cycle Checkpoints;Metalloprotease DUBs;Deubiquitination;Cell Cycle;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;DNA Double Strand Break Response;Processing of DNA double-strand break ends;ATM pathway (Consensus)

Recessive Scores

pRec
0.178

Intolerance Scores

loftool
0.809
rvis_EVS
0.07
rvis_percentile_EVS
59.11

Haploinsufficiency Scores

pHI
0.284
hipred
Y
hipred_score
0.731
ghis
0.490

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.534

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Uimc1
Phenotype
neoplasm; 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); homeostasis/metabolism phenotype; cellular phenotype;

Gene ontology

Biological process
double-strand break repair;double-strand break repair via nonhomologous end joining;response to ionizing radiation;protein deubiquitination;positive regulation of DNA repair;negative regulation of transcription, DNA-templated;histone H2A K63-linked deubiquitination;signal transduction involved in G2 DNA damage checkpoint
Cellular component
nucleus;nucleoplasm;nuclear body;BRCA1-A complex
Molecular function
protein binding;histone binding;K63-linked polyubiquitin modification-dependent protein binding