RCOR3

REST corepressor 3, the group of Myb/SANT domain containing

Basic information

Region (hg38): 1:211258377-211316385

Links

ENSG00000117625 ∙ NCBI:55758 ∙ ∙ HGNC:25594 ∙ Uniprot:Q9P2K3 ∙ 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 RCOR3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RCOR3 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						0
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in RCOR3

This is a list of pathogenic ClinVar variants found in the RCOR3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-211259624-G-A		not specified	Uncertain significance (Jul 30, 2023)
1-211259634-C-T		not specified	Uncertain significance (Jul 06, 2021)
1-211259685-A-T		not specified	Uncertain significance (Apr 07, 2023)
1-211271232-G-A		not specified	Uncertain significance (Dec 19, 2022)
1-211271256-A-C		not specified	Uncertain significance (Jan 31, 2024)
1-211276375-C-G		not specified	Uncertain significance (Mar 19, 2024)
1-211278125-T-A		not specified	Uncertain significance (Feb 13, 2023)
1-211279296-A-C		not specified	Uncertain significance (Jun 29, 2023)
1-211289185-C-A		not specified	Uncertain significance (Jun 07, 2024)
1-211289212-T-C		not specified	Uncertain significance (Jun 29, 2023)
1-211289338-A-G		not specified	Uncertain significance (Nov 28, 2024)
1-211289347-A-T		not specified	Uncertain significance (Sep 19, 2023)
1-211289352-A-G		not specified	Uncertain significance (Jan 02, 2024)
1-211289364-C-G		not specified	Uncertain significance (Jun 30, 2024)
1-211289392-G-A		not specified	Uncertain significance (Jan 10, 2023)
1-211312880-T-G		not specified	Uncertain significance (Nov 19, 2022)
1-211313445-C-T		not specified	Uncertain significance (Oct 05, 2023)
1-211313469-G-T		not specified	Uncertain significance (Jan 30, 2024)
1-211313521-C-T		not specified	Uncertain significance (Nov 24, 2024)
1-211313569-G-A		not specified	Uncertain significance (Jan 08, 2024)
1-211313577-C-T		not specified	Uncertain significance (May 11, 2022)
1-211313641-C-T		not specified	Uncertain significance (Aug 10, 2021)
1-211313651-C-T		not specified	Likely benign (Nov 22, 2024)
1-211313701-C-T		not specified	Uncertain significance (Dec 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RCOR3	protein_coding	protein_coding	ENST00000419091	12	58009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.988	0.0120	125740	0	6	125746	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.72	172	306	0.563	0.0000167	3632
Missense in Polyphen		68	157.21	0.43255		1779
Synonymous	1.99	77	103	0.750	0.00000493	1068
Loss of Function	4.24	3	26.6	0.113	0.00000114	329

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000330	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a component of a corepressor complex that represses transcription. {ECO:0000305}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.457
• rvis_EVS: -0.41
• rvis_percentile_EVS: 26.23

Haploinsufficiency Scores

• pHI: 0.605
• hipred: Y
• hipred_score: 0.562
• ghis: 0.633

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.968

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rcor3

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;negative regulation of nucleic acid-templated transcription
• Cellular component: nucleus;transcription factor complex;transcriptional repressor complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;transcription corepressor activity;protein binding;transcription factor binding;transcription regulatory region DNA binding