RERG

RAS like estrogen regulated growth inhibitor, the group of RAS type GTPase family

Basic information

Region (hg38): 12:15107783-15348675

Links

ENSG00000134533 ∙ NCBI:85004 ∙ OMIM:612664 ∙ HGNC:15980 ∙ Uniprot:Q96A58 ∙ 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 RERG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RERG 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					1	1
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	11	0	1

Variants in RERG

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

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

Position	Type	Phenotype	Significance	ClinVar
12-15109204-C-T		not specified	Uncertain significance (Sep 30, 2021)
12-15109232-A-G		not specified	Uncertain significance (Nov 22, 2023)
12-15109271-A-G		not specified	Uncertain significance (Nov 17, 2022)
12-15109322-T-C		not specified	Uncertain significance (Jun 18, 2021)
12-15109328-C-T		not specified	Uncertain significance (Dec 19, 2023)
12-15109418-G-T		not specified	Uncertain significance (Jun 23, 2021)
12-15109425-C-T			Benign (Dec 31, 2019)
12-15109430-C-T		not specified	Uncertain significance (Dec 03, 2021)
12-15109455-G-T		not specified	Uncertain significance (May 06, 2022)
12-15109460-A-G			Uncertain significance (Dec 18, 2017)
12-15111370-T-A		not specified	Uncertain significance (Dec 03, 2021)
12-15111408-T-C		not specified	Uncertain significance (Dec 19, 2022)
12-15121064-G-A			Benign (Dec 31, 2019)
12-15322057-T-TCA			Likely benign (Apr 26, 2020)
12-15322293-G-A			Benign (Nov 12, 2018)
12-15322748-A-C		not specified	Uncertain significance (Aug 16, 2022)
12-15322749-T-C			Uncertain significance (Apr 20, 2022)
12-15322757-G-A		not specified	Uncertain significance (Jan 23, 2023)
12-15322757-G-T		PTPRO-related disorder	Benign (Nov 14, 2023)
12-15322773-C-G		not specified	Uncertain significance (Oct 29, 2021)
12-15322786-C-G		PTPRO-related disorder	Likely benign (Jun 27, 2022)
12-15322799-A-G			Uncertain significance (Dec 13, 2021)
12-15322810-G-C			Likely benign (Jun 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RERG	protein_coding	protein_coding	ENST00000256953	4	240893

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000120	0.615	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.347	108	119	0.910	0.00000687	1294
Missense in Polyphen		25	30.037	0.83231		367
Synonymous	1.13	33	42.3	0.780	0.00000240	387
Loss of Function	0.858	9	12.2	0.735	9.16e-7	109

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000159	0.000158
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000968	0.0000967
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds GDP/GTP and possesses intrinsic GTPase activity. Has higher affinity for GDP than for GTP. In cell lines overexpression leads to a reduction in the rate of proliferation, colony formation and in tumorigenic potential. {ECO:0000269|PubMed:11533059}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.876
• rvis_EVS: -0.27
• rvis_percentile_EVS: 33.97

Haploinsufficiency Scores

• pHI: 0.205
• hipred: N
• hipred_score: 0.448
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.377

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rerg

Gene ontology

• Biological process: small GTPase mediated signal transduction;negative regulation of cell population proliferation;response to hormone;negative regulation of cell growth
• Cellular component: nucleus;cytosol;membrane
• Molecular function: GTPase activity;GTP binding;GDP binding;estrogen receptor binding