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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:Q92766AlphaFoldGenCCjaxSfariGnomADPubmed

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 (125 variants)
  • Inborn genetic diseases (73 variants)
  • Microcephaly (2 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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 69 20 89
missense 74 19 11 104
nonsense 0
start loss 0
frameshift 2 2
inframe indel 1 1
splice variant 1 1 2
non coding 1 1 2
Total 0 0 76 91 33

Variants in RREB1

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

Position Type Phenotype Significance ClinVar
6-7181917-G-A Benign (Dec 31, 2019)link
6-7181922-G-A Benign (Dec 31, 2019)link
6-7181930-G-A Inborn genetic diseases Uncertain significance (Sep 27, 2021)link
6-7181998-G-A Benign (Dec 31, 2019)link
6-7182040-C-T Likely benign (Dec 31, 2019)link
6-7182043-G-A Benign (Dec 31, 2019)link
6-7182047-C-T Likely benign (Apr 10, 2018)link
6-7189165-A-G Benign (Dec 31, 2019)link
6-7189168-G-A Inborn genetic diseases Uncertain significance (Aug 16, 2022)link
6-7189185-C-T Likely benign (Oct 29, 2018)link
6-7189221-G-A Likely benign (Dec 31, 2019)link
6-7189267-C-T Inborn genetic diseases Uncertain significance (Nov 10, 2022)link
6-7189311-G-A Likely benign (Jun 25, 2018)link
6-7189331-G-A Likely benign (Oct 23, 2018)link
6-7210845-C-A Inborn genetic diseases Uncertain significance (Jan 26, 2022)link
6-7210858-A-G Likely benign (Dec 18, 2018)link
6-7210859-T-C Inborn genetic diseases Uncertain significance (Jul 12, 2022)link
6-7210863-C-T Microcephaly Uncertain significance (-)link
6-7210880-T-C Likely benign (Jun 26, 2018)link
6-7210931-C-A Likely benign (Jul 29, 2018)link
6-7211646-A-G Inborn genetic diseases Uncertain significance (Sep 01, 2021)link
6-7211695-A-G Likely benign (Nov 06, 2018)link
6-7226524-G-A Likely benign (Jul 10, 2018)link
6-7226590-T-C Likely benign (Jun 12, 2018)link
6-7226605-C-T Benign (Dec 31, 2019)link

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