RREB1

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

Basic information

Region (hg38): 6:7107597-7251980

Links

ENSG00000124782

∙ NCBI:6239 ∙ OMIM:602209 ∙ HGNC:10449 ∙ Uniprot:Q92766 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

complex neurodevelopmental disorder (Limited), mode of inheritance: AD
22q11.2 deletion syndrome (Supportive), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RREB1 gene.

not_specified (321 variants)
not_provided (173 variants)
RREB1-related_disorder (48 variants)
Microcephaly (2 variants)
RREB1-associated_Noonan-like_syndrome (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. These statistics are base on transcript: NM_001003699.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				100 clinvar	16 clinvar	116
missense			318 clinvar	40 clinvar	8 clinvar	366
nonsense			3 clinvar			3
start loss						0
frameshift	2 clinvar		4 clinvar			6
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	2	0	326	140	24

Loading clinvar variants...

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
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