TRIM36

tripartite motif containing 36, the group of Tripartite motif family|Ring finger proteins|Fibronectin type III domain containing

Basic information

Region (hg38): 5:115124762-115180546

Links

ENSG00000152503 ∙ NCBI:55521 ∙ OMIM:609317 ∙ HGNC:16280 ∙ Uniprot:Q9NQ86 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• anencephaly 1 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Anencephaly	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	28087737

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIM36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM36 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	5	8
missense			47	2	3	52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding				1	1	2
Total	0	0	47	6	9

Variants in TRIM36

This is a list of pathogenic ClinVar variants found in the TRIM36 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-115126509-G-A			Likely benign (Jul 01, 2022)
5-115126517-G-C		TRIM36-related disorder	Benign (Jan 30, 2018)
5-115126534-G-A		not specified	Uncertain significance (Jun 10, 2024)
5-115126539-G-A			Likely benign (Dec 31, 2019)
5-115126600-T-C		not specified	Uncertain significance (Mar 25, 2024)
5-115126613-C-G		not specified	Uncertain significance (Feb 27, 2024)
5-115126618-C-T		not specified	Uncertain significance (Nov 12, 2021)
5-115126619-G-A		not specified	Uncertain significance (Jan 23, 2023)
5-115126635-C-A		not specified	Uncertain significance (May 14, 2024)
5-115126645-A-G		not specified	Uncertain significance (Aug 02, 2022)
5-115126658-C-T		Anencephaly 1	Benign (Sep 10, 2021)
5-115126667-C-T		not specified	Uncertain significance (Jan 08, 2024)
5-115126738-G-A		not specified	Uncertain significance (Oct 12, 2021)
5-115126738-G-C		not specified	Uncertain significance (Oct 26, 2021)
5-115126763-A-G		not specified	Uncertain significance (Jan 23, 2023)
5-115126775-C-G		not specified	Uncertain significance (Jul 12, 2022)
5-115126778-T-C		not specified	Uncertain significance (Sep 22, 2023)
5-115126849-T-G		not specified	Uncertain significance (Feb 10, 2023)
5-115126892-A-C		Anencephaly 1	Benign (Sep 10, 2021)
5-115130620-G-A		not specified	Uncertain significance (Aug 17, 2022)
5-115130644-T-C		not specified	Uncertain significance (Feb 12, 2024)
5-115130653-C-T		not specified	Uncertain significance (May 28, 2023)
5-115130730-C-T		not specified	Uncertain significance (Nov 22, 2021)
5-115130817-C-T		not specified	Uncertain significance (Jan 30, 2024)
5-115130826-T-C		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM36	protein_coding	protein_coding	ENST00000282369	10	55785

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000342	1.00	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.398	406	384	1.06	0.0000190	4848
Missense in Polyphen		124	153.1	0.80993		1908
Synonymous	-1.73	153	128	1.19	0.00000602	1308
Loss of Function	3.04	13	31.4	0.414	0.00000165	418

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000341	0.000340
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000112	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000969	0.0000967
Middle Eastern	0.000112	0.000109
South Asian	0.000142	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Involved in chromosome segregation and cell cycle regulation (PubMed:28087737). May play a role in the acrosome reaction and fertilization. {ECO:0000250|UniProtKB:Q80WG7, ECO:0000269|PubMed:28087737}.
• Pathway: Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.416
• rvis_EVS: 0.14
• rvis_percentile_EVS: 63.62

Haploinsufficiency Scores

• pHI: 0.542
• hipred: Y
• hipred_score: 0.600
• ghis: 0.469

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.954

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim36

Gene ontology

• Biological process: protein polyubiquitination;mitotic cytokinesis;spindle organization;acrosome reaction;regulation of cell cycle;regulation of microtubule cytoskeleton organization
• Cellular component: acrosomal vesicle;cytoplasm;cytosol;cytoskeleton
• Molecular function: ubiquitin-protein transferase activity;protein binding;zinc ion binding;alpha-tubulin binding