TRIM27

tripartite motif containing 27, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 6:28903002-28923988

Previous symbols: [ "RFP" ]

Links

ENSG00000204713

∙ NCBI:5987 ∙ OMIM:602165 ∙ HGNC:9975 ∙ Uniprot:P14373 ∙ 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 TRIM27 gene.

not_specified (29 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM27 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006510.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			29 clinvar			29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM27	protein_coding	protein_coding	ENST00000377199	8	20988

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00315	124823	0	3	124826	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.70	116	295	0.393	0.0000154	3362
Missense in Polyphen		17	75.329	0.22568		799
Synonymous	-0.173	122	120	1.02	0.00000614	984
Loss of Function	4.34	2	25.8	0.0776	0.00000120	291

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000551	0.0000546
Finnish	0.0000936	0.0000924
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000551	0.0000546
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: E3 ubiquitin-protein ligase that mediates ubiquitination of PIK3C2B and inhibits its activity; mediates the formation of 'Lys-48'-linked polyubiquitin chains; the function inhibits CD4 T- cell activation. Acts as a regulator of retrograde transport: together with MAGEL2, mediates the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1, leading to promote endosomal F-actin assembly (PubMed:23452853). Has a transcriptional repressor activity by cooperating with EPC1. Induces apoptosis by activating Jun N-terminal kinase and p38 kinase and also increases caspase-3-like activity independently of mitochondrial events. May function in male germ cell development. Has DNA-binding activity and preferentially bound to double- stranded DNA. {ECO:0000269|PubMed:10976108, ECO:0000269|PubMed:12807881, ECO:0000269|PubMed:22128329, ECO:0000269|PubMed:23452853}.;
Disease: DISEASE: Note=A chromosomal aberration involving TRIM27/RFP is found in papillary thyroid carcinomas (PTCs). Translocation t(6;10)(p21.3;q11.2) with RET. The translocation generates TRIM27/RET and delta TRIM27/RET oncogenes. {ECO:0000269|PubMed:12787916, ECO:0000269|PubMed:3037315}.;
Pathway: Signal Transduction;Regulation of PTEN stability and activity;PTEN Regulation;PIP3 activates AKT signaling;Intracellular signaling by second messengers (Consensus)

Intolerance Scores

loftool: 0.112
rvis_EVS: -0.34
rvis_percentile_EVS: 30.37

Haploinsufficiency Scores

pHI: 0.396
hipred: Y
hipred_score: 0.785
ghis: 0.501

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.975

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Trim27
Phenotype: neoplasm; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); liver/biliary system phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype;

Gene ontology

Biological process: negative regulation of transcription by RNA polymerase II;negative regulation of adaptive immune response;negative regulation of protein kinase activity;spermatogenesis;cell population proliferation;protein sumoylation;negative regulation of tumor necrosis factor production;negative regulation of viral transcription;Arp2/3 complex-mediated actin nucleation;retrograde transport, endosome to Golgi;innate immune response;negative regulation of gene expression, epigenetic;positive regulation of DNA-binding transcription factor activity;positive regulation of actin nucleation;protein trimerization;protein K63-linked ubiquitination;interferon-gamma secretion;negative regulation of calcium ion import;negative regulation of interleukin-2 secretion;negative regulation of viral release from host cell
Cellular component: fibrillar center;nucleus;nucleoplasm;nucleolus;cytoplasm;endosome;early endosome;cytosol;PML body;retromer complex;nuclear membrane
Molecular function: nucleic acid binding;DNA binding;ubiquitin-protein transferase activity;protein binding;zinc ion binding;SUMO transferase activity;identical protein binding;metal ion binding;ubiquitin protein ligase activity