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GeneBe

RREB1

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

Basic information

Region (hg38): 6:7107596-7251980

Links

ENSG00000124782NCBI:6239OMIM:602209HGNC:10449Uniprot:Q92766AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
clinvar
19
clinvar
99
missense
109
clinvar
21
clinvar
10
clinvar
140
nonsense
0
start loss
0
frameshift
0
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
splice region
1
1
2
non coding
1
clinvar
1
clinvar
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)709576
6-7181922-G-A RREB1-related condition Benign (Dec 31, 2019)791534
6-7181925-C-G not specified Uncertain significance (Nov 03, 2023)3156408
6-7181925-C-T not specified Uncertain significance (Dec 07, 2023)3156409
6-7181930-G-A not specified Uncertain significance (Sep 27, 2021)2231082
6-7181942-G-A not specified Uncertain significance (Oct 05, 2023)3156420
6-7181976-C-T not specified Uncertain significance (Dec 31, 2023)3156439
6-7181980-G-A RREB1-related condition Likely benign (Sep 17, 2019)3040373
6-7181998-G-A RREB1-related condition Benign (Dec 31, 2019)791535
6-7182040-C-T Likely benign (Dec 31, 2019)726332
6-7182043-G-A Benign/Likely benign (Sep 01, 2022)750406
6-7182047-C-T Likely benign (Apr 10, 2018)740171
6-7189165-A-G RREB1-related condition Benign (Dec 31, 2019)768060
6-7189168-G-A not specified Uncertain significance (Aug 16, 2022)2307317
6-7189171-A-G not specified Uncertain significance (Feb 06, 2024)3156415
6-7189185-C-A not specified Uncertain significance (Oct 20, 2023)3156417
6-7189185-C-T Likely benign (Oct 29, 2018)752393
6-7189221-G-A Likely benign (Dec 31, 2019)746008
6-7189267-C-T not specified Uncertain significance (Nov 10, 2022)2325305
6-7189279-A-G not specified Uncertain significance (Sep 22, 2023)3156426
6-7189311-G-A Likely benign (Jun 25, 2018)752578
6-7189331-G-A Likely benign (Oct 23, 2018)793436
6-7210845-C-A not specified Uncertain significance (Jan 26, 2022)2273899
6-7210858-A-G Likely benign (Dec 18, 2018)738082
6-7210859-T-C not specified Uncertain significance (Jul 12, 2022)2301004

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RREB1protein_codingprotein_codingENST00000379938 10144384
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.000.00000219125740171257480.0000318
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.42711351.10e+31.040.000073011244
Missense in Polyphen313408.740.765774263
Synonymous-5.746635001.330.00003913552
Loss of Function6.13349.60.06050.00000251607

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002460.000240
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001760.0000176
Middle Eastern0.000.00
South Asian0.000.00
Other0.0001640.000163

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

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Rreb1
Phenotype

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