RNF207

ring finger protein 207, the group of Ring finger proteins

Basic information

Region (hg38): 1:6205475-6221299

Previous symbols: [ "C1orf188" ]

Links

ENSG00000158286 ∙ NCBI:388591 ∙ OMIM:616923 ∙ HGNC:32947 ∙ Uniprot:Q6ZRF8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• long QT syndrome (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNF207 gene.

• not_specified (113 variants)
• not_provided (3 variants)
• Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF207 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207396.3. 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		1
missense			110	4		114
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)		1				1
Total	0	1	111	5	0

Highest pathogenic variant AF is 0.0000075887983

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF207	protein_coding	protein_coding	ENST00000377939	17	15825

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.47e-12	0.813	125643	1	104	125748	0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.454	353	378	0.934	0.0000226	4058
Missense in Polyphen		52	71.026	0.73212		872
Synonymous	0.904	156	171	0.912	0.0000116	1251
Loss of Function	1.77	23	34.2	0.673	0.00000180	368

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000503	0.000487
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.0000556	0.0000544
Finnish	0.000424	0.000416
European (Non-Finnish)	0.000370	0.000360
Middle Eastern	0.0000556	0.0000544
South Asian	0.00145	0.00137
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner. {ECO:0000269|PubMed:25281747}.

Intolerance Scores

• loftool: 0.769
• rvis_EVS: 0.91
• rvis_percentile_EVS: 89.54

Haploinsufficiency Scores

• pHI: 0.0984
• hipred: N
• hipred_score: 0.333
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.217

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf207

Zebrafish Information Network

• Gene name: rnf207b
• Affected structure: ventricular myocardium
• Phenotype tag: abnormal
• Phenotype quality: increased duration

Gene ontology

• Biological process: positive regulation of gene expression;regulation of cardiac muscle contraction;cell-cell signaling involved in cardiac conduction;regulation of heart looping;positive regulation of delayed rectifier potassium channel activity;positive regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;positive regulation of voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
• Cellular component: perinuclear region of cytoplasm
• Molecular function: protein binding;zinc ion binding;Hsp70 protein binding;ion channel binding;chaperone binding