TRIM51

tripartite motif-containing 51, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 11:55883296-55891810

Previous symbols: [ "SPRYD5" ]

Links

ENSG00000124900 ∙ NCBI:84767 ∙ ∙ HGNC:19023 ∙ Uniprot:Q9BSJ1 ∙ 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 TRIM51 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM51 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			27		1	28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	0	1

Variants in TRIM51

This is a list of pathogenic ClinVar variants found in the TRIM51 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-55885448-A-C		not specified	Uncertain significance (Nov 09, 2023)
11-55885495-C-A			Benign (Oct 24, 2018)
11-55885516-T-C		not specified	Uncertain significance (Sep 20, 2023)
11-55885705-T-C		not specified	Uncertain significance (Sep 26, 2022)
11-55885772-G-C		not specified	Uncertain significance (Mar 17, 2023)
11-55886147-T-C		not specified	Uncertain significance (Jun 24, 2022)
11-55888052-A-G		not specified	Uncertain significance (Sep 22, 2021)
11-55888057-C-A		not specified	Uncertain significance (Aug 02, 2021)
11-55888086-G-A		not specified	Uncertain significance (Aug 23, 2021)
11-55888119-G-C		not specified	Uncertain significance (Jan 19, 2024)
11-55888129-G-A		not specified	Uncertain significance (Apr 15, 2022)
11-55888132-A-C		not specified	Uncertain significance (Jul 06, 2022)
11-55888140-G-A		not specified	Uncertain significance (Nov 18, 2023)
11-55889980-A-C		not specified	Uncertain significance (Feb 10, 2023)
11-55889988-C-T		not specified	Uncertain significance (Nov 19, 2022)
11-55891190-T-G		not specified	Uncertain significance (Jan 11, 2023)
11-55891204-G-A		not specified	Uncertain significance (Sep 14, 2023)
11-55891252-T-C		not specified	Uncertain significance (May 17, 2023)
11-55891306-G-T		not specified	Uncertain significance (May 26, 2022)
11-55891363-G-A		not specified	Uncertain significance (Oct 26, 2021)
11-55891370-G-A		not specified	Uncertain significance (Dec 02, 2022)
11-55891379-A-G		not specified	Uncertain significance (Jan 20, 2023)
11-55891384-A-G		not specified	Uncertain significance (Jan 19, 2024)
11-55891415-G-T		not specified	Uncertain significance (Dec 26, 2023)
11-55891441-A-C		not specified	Uncertain significance (May 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM51	protein_coding	protein_coding	ENST00000449290	6	8514

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.38e-8	0.211	124130	22	1432	125584	0.00581

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.14	287	238	1.21	0.0000118	3002
Missense in Polyphen		50	51.395	0.97287		709
Synonymous	-2.04	107	83.3	1.28	0.00000406	805
Loss of Function	0.399	13	14.6	0.887	7.02e-7	180

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0861	0.0803
Ashkenazi Jewish	0.00205	0.00199
East Asian	0.000163	0.000163
Finnish	0.000486	0.000462
European (Non-Finnish)	0.000516	0.000494
Middle Eastern	0.000163	0.000163
South Asian	0.000491	0.000457
Other	0.00298	0.00294

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0758

Haploinsufficiency Scores

• pHI: 0.0453
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_gene_trap: N

Gene Damage Prediction

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

Gene ontology

• Molecular function: zinc ion binding