TRIM36

protein-coding

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

Gene summary

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_001300759.2

Inheritance

ClinVar variants

P:1U:99B:11

Top phenotype

Anencephaly

gnomAD constraint

pLI —, LoF o/e 0.41

Max pathogenic AF

—

Genomic locus

chr5:115,124,762-115,180,546

External References & Databases

Ensembl (ENSG00000152503)

Transcript & Mutation Effects

hg38 • Region Span ~55.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

anencephaly 1LIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0008791

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

AnencephalyAR

Manifestation: Neurologic

Intervention: General

Rationale: 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

Refs: 28087737

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TRIM36 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 96

not providedTotal: 7

TRIM36-related disorderTotal: 4

AnencephalyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001300759.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	3 clinvar	3 clinvar	7
missense	1 clinvar		96 clinvar	3 clinvar	2 clinvar	102
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	1	0	99	6	5	111

Highest pathogenic variant AF is 0.000004856639

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001300759.2	RefSeq	NP_001287688.1	10	MANE Select
ENST00000513154.6	Ensembl	ENSP00000423934.1	10	MANE Select
NM_001017397.2	RefSeq	NP_001017397.1	2	Standard
NM_001017398.2	RefSeq	NP_001017398.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Immune System
Adaptive Immune System
Antigen processing: Ubiquitination & Proteasome degradation
Class I MHC mediated antigen processing & presentation

Biological Process

protein polyubiquitination
mitotic cytokinesis
spindle organization
acrosome reaction
regulation of cell cycle

Molecular Function

ubiquitin-protein transferase activity
protein binding
zinc ion binding
alpha-tubulin binding

Cellular Component

acrosomal vesicle
cytoplasm
cytosol
cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000282369
Coding exons: 10
Length: 55785
Individuals with no LoFs: 125721
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 125748
p: 0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.398	406	384	1.06	0.0000190	4848
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000093	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000097	0.000097	rare
South Asian	0.00014	0.00013	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.416
RVIS EVS: 0.14
RVIS percentile EVS: 63.62

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.954

Gene Damage Prediction

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