TRIM44

tripartite motif containing 44, the group of Tripartite motif family

Basic information

Region (hg38): 11:35662775-35818007

Links

ENSG00000166326 ∙ NCBI:54765 ∙ OMIM:612298 ∙ HGNC:19016 ∙ Uniprot:Q96DX7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• aniridia 3 (Limited), mode of inheritance: AD
• isolated aniridia (Supportive), mode of inheritance: AD
• aniridia 3 (Limited), mode of inheritance: AD
• aniridia 3 (Limited), mode of inheritance: AD
• aniridia 3 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Aniridia 3	AD	Ophthalmologic; Pharmacogenomic	Individuals with may be at risk of developing glaucoma; Agents that may contribute to glaucoma should be avoided	Ophthalmologic	26394807

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIM44 gene.

• not_specified (40 variants)
• not_provided (4 variants)
• TRIM44-related_disorder (2 variants)
• Aniridia_3 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM44 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000017583.6. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	3	4
missense			39	2	1	42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	3	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM44	protein_coding	protein_coding	ENST00000299413	5	145423

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0538	0.942	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.07	150	192	0.783	0.00000944	2310
Missense in Polyphen		20	28.083	0.71217		295
Synonymous	0.881	67	76.8	0.872	0.00000470	579
Loss of Function	2.54	5	15.9	0.314	6.88e-7	197

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000535	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the process of differentiation and maturation of neuronal cells (By similarity). May regulate the activity of TRIM17. Is a negative regulator of PAX6 expression (PubMed:26394807). {ECO:0000250, ECO:0000269|PubMed:19358823, ECO:0000269|PubMed:26394807}.

Recessive Scores

• pRec: 0.146

Intolerance Scores

• loftool: 0.425
• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

• pHI: 0.582
• hipred: N
• hipred_score: 0.419
• ghis: 0.602

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.970

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim44

Gene ontology

• Biological process: positive regulation of cytokine-mediated signaling pathway;positive regulation of defense response to virus by host;regulation of gene expression;positive regulation of transcription, DNA-templated;protein stabilization;negative regulation of protein K48-linked ubiquitination;positive regulation of NIK/NF-kappaB signaling
• Molecular function: protein binding;zinc ion binding