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GeneBe

TRIM15

tripartite motif containing 15, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 6:30163205-30172693

Previous symbols: [ "ZNF178" ]

Links

ENSG00000204610NCBI:89870HGNC:16284Uniprot:Q9C019AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIM15 gene.

  • Inborn genetic diseases (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM15 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
1
clinvar
18
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 1 0

Variants in TRIM15

This is a list of pathogenic ClinVar variants found in the TRIM15 region.

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

Position Type Phenotype Significance ClinVar
6-30163691-G-A not specified Uncertain significance (Nov 06, 2023)3182235
6-30163717-T-G not specified Uncertain significance (Nov 10, 2022)2308546
6-30163781-C-T not specified Uncertain significance (Jun 12, 2023)2517400
6-30163794-G-C not specified Uncertain significance (Apr 28, 2022)2204865
6-30163904-C-G not specified Uncertain significance (Sep 01, 2021)2248255
6-30163913-C-T not specified Uncertain significance (Jun 17, 2022)2358150
6-30163946-G-A not specified Uncertain significance (Dec 20, 2023)3182232
6-30163951-G-T not specified Uncertain significance (Feb 15, 2023)2485427
6-30164010-C-T not specified Uncertain significance (Sep 01, 2021)2236162
6-30167188-A-G not specified Uncertain significance (Oct 26, 2021)2384791
6-30167225-T-C not specified Uncertain significance (Feb 17, 2022)2277766
6-30168307-T-C not specified Uncertain significance (Jan 30, 2024)3182233
6-30168318-A-G not specified Uncertain significance (Sep 16, 2021)2250561
6-30168369-C-A not specified Uncertain significance (Jan 30, 2024)3182234
6-30168441-A-T not specified Likely benign (Nov 29, 2021)2360671
6-30168471-G-A not specified Uncertain significance (Apr 12, 2022)2283394
6-30170602-T-C not specified Uncertain significance (Feb 15, 2023)2484358
6-30171840-A-T not specified Uncertain significance (May 22, 2023)2523993
6-30171853-A-G not specified Uncertain significance (May 17, 2023)2511928
6-30171928-C-T not specified Uncertain significance (Sep 25, 2023)3182236
6-30172167-C-A not specified Uncertain significance (May 27, 2022)2374490
6-30172215-G-A not specified Uncertain significance (Jun 02, 2023)2517293
6-30172260-A-G not specified Uncertain significance (Dec 23, 2022)2338024

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TRIM15protein_codingprotein_codingENST00000376694 79481
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
7.76e-90.27812545512921257480.00117
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4122452640.9290.00001382992
Missense in Polyphen5164.7150.78807782
Synonymous1.261021200.8530.00000737927
Loss of Function0.6261416.80.8358.66e-7185

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.003800.00379
Ashkenazi Jewish0.005640.00557
East Asian0.0001640.000163
Finnish0.000.00
European (Non-Finnish)0.0008580.000818
Middle Eastern0.0001640.000163
South Asian0.0002680.000229
Other0.001480.00147

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.856
rvis_EVS
1.91
rvis_percentile_EVS
97.36

Haploinsufficiency Scores

pHI
0.0920
hipred
N
hipred_score
0.220
ghis
0.398

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.883

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Trim15
Phenotype

Gene ontology

Biological process
mesodermal cell fate determination;positive regulation of type I interferon production;innate immune response;positive regulation of DNA-binding transcription factor activity;positive regulation of NF-kappaB transcription factor activity;positive regulation of RIG-I signaling pathway;negative regulation of intracellular transport of viral material;negative regulation of viral release from host cell
Cellular component
Molecular function
protein binding;zinc ion binding