RREB1

ras responsive element binding protein 1, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 6:7107596-7251980

Links

ENSG00000124782 ∙ NCBI:6239 ∙ OMIM:602209 ∙ HGNC:10449 ∙ Uniprot:Q92766 ∙ 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 RREB1 gene.

• not provided (137 variants)
• Inborn genetic diseases (108 variants)
• RREB1-related condition (1 variants)
• Microcephaly (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RREB1 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				80	19	99
missense			109	21	10	140
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region			1	1		2
non coding				1	1	2
Total	0	0	109	103	30

Variants in RREB1

This is a list of pathogenic ClinVar variants found in the RREB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-7181917-G-A			Benign (Dec 31, 2019)
6-7181922-G-A		RREB1-related disorder	Benign (Dec 31, 2019)
6-7181925-C-G		not specified	Uncertain significance (Nov 03, 2023)
6-7181925-C-T		not specified	Uncertain significance (Dec 07, 2023)
6-7181930-G-A		not specified	Uncertain significance (Sep 27, 2021)
6-7181942-G-A		not specified	Uncertain significance (Oct 05, 2023)
6-7181976-C-T		not specified	Uncertain significance (Dec 31, 2023)
6-7181980-G-A		RREB1-related disorder	Likely benign (Sep 17, 2019)
6-7181998-G-A		RREB1-related disorder	Benign (Dec 31, 2019)
6-7182040-C-T			Likely benign (Dec 31, 2019)
6-7182043-G-A			Benign/Likely benign (Sep 01, 2022)
6-7182047-C-T			Likely benign (Apr 10, 2018)
6-7189165-A-G		RREB1-related disorder	Benign (Dec 31, 2019)
6-7189168-G-A		not specified	Uncertain significance (Aug 16, 2022)
6-7189171-A-G		not specified	Uncertain significance (Feb 06, 2024)
6-7189185-C-A		not specified	Uncertain significance (Oct 20, 2023)
6-7189185-C-T			Likely benign (Oct 29, 2018)
6-7189221-G-A			Likely benign (Dec 31, 2019)
6-7189267-C-T		not specified	Uncertain significance (Nov 10, 2022)
6-7189279-A-G		not specified	Uncertain significance (Sep 22, 2023)
6-7189311-G-A			Likely benign (Jun 25, 2018)
6-7189331-G-A			Likely benign (Oct 23, 2018)
6-7210845-C-A		not specified	Uncertain significance (Jan 26, 2022)
6-7210858-A-G			Likely benign (Dec 18, 2018)
6-7210859-T-C		not specified	Uncertain significance (Jul 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RREB1	protein_coding	protein_coding	ENST00000379938	10	144384

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000219	125740	1	7	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.427	1135	1.10e+3	1.04	0.0000730	11244
Missense in Polyphen		313	408.74	0.76577		4263
Synonymous	-5.74	663	500	1.33	0.0000391	3552
Loss of Function	6.13	3	49.6	0.0605	0.00000251	607

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000240
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor that binds specifically to the RAS- responsive elements (RRE) of gene promoters. May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression. Represses the angiotensinogen gene. Negatively regulates the transcriptional activity of AR. Potentiates the transcriptional activity of NEUROD1. {ECO:0000269|PubMed:10390538, ECO:0000269|PubMed:12482979, ECO:0000269|PubMed:15067362, ECO:0000269|PubMed:17550981, ECO:0000269|PubMed:8816445, ECO:0000269|PubMed:9305772}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.00117
• rvis_EVS: -0.17
• rvis_percentile_EVS: 40.61

Haploinsufficiency Scores

• pHI: 0.222
• hipred: Y
• hipred_score: 0.783
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.849

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Rreb1

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription, DNA-templated;transcription by RNA polymerase II;Ras protein signal transduction;multicellular organism development;positive regulation of epithelial cell migration;positive regulation of mammary gland epithelial cell proliferation;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;positive regulation of substrate adhesion-dependent cell spreading;positive regulation of wound healing, spreading of epidermal cells;positive regulation of lamellipodium morphogenesis
• Cellular component: fibrillar center;nucleus;cytoplasm;nuclear body;nuclear speck;extracellular exosome
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;metal ion binding