RERGL

RERG like, the group of RAS type GTPase family

Basic information

Region (hg38): 12:18080868-18320107

Links

ENSG00000111404 ∙ NCBI:79785 ∙ ∙ HGNC:26213 ∙ Uniprot:Q9H628 ∙ 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 RERGL gene.

• Inborn genetic diseases (6 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RERGL 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						0
missense			6			6
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	1

Variants in RERGL

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

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

Position	Type	Phenotype	Significance	ClinVar
12-18081247-T-C		not specified	Uncertain significance (Dec 19, 2023)
12-18081261-C-A		not specified	Uncertain significance (Aug 21, 2023)
12-18081262-G-A		not specified	Uncertain significance (Feb 28, 2023)
12-18081287-T-C		not specified	Uncertain significance (Mar 04, 2024)
12-18081320-C-T		not specified	Uncertain significance (Nov 17, 2023)
12-18081328-C-T		not specified	Uncertain significance (Sep 20, 2023)
12-18081394-G-T		Malignant tumor of prostate	Uncertain significance (-)
12-18081457-C-A		not specified	Uncertain significance (Jul 15, 2021)
12-18084584-A-T		Inborn genetic diseases	Uncertain significance (Jan 19, 2022)
12-18084640-G-T		not specified	Uncertain significance (Jun 22, 2023)
12-18085682-TATAG-T			Benign (Dec 31, 2019)
12-18088908-G-A		not specified	Uncertain significance (Dec 08, 2023)
12-18089266-A-T		not specified	Uncertain significance (May 23, 2023)
12-18282091-T-C		not specified	Uncertain significance (Aug 13, 2021)
12-18282103-G-T		not specified	Uncertain significance (Feb 28, 2023)
12-18282286-C-T		not specified	Uncertain significance (Sep 16, 2021)
12-18282314-T-C		not specified	Uncertain significance (Mar 16, 2022)
12-18282344-A-G		not specified	Uncertain significance (Jun 28, 2023)
12-18282394-C-A		not specified	Uncertain significance (May 24, 2023)
12-18282464-GCCC-G			Benign (Aug 16, 2019)
12-18282518-C-T			Benign (Aug 16, 2019)
12-18282520-T-C		not specified	Uncertain significance (Oct 20, 2021)
12-18282536-A-G		not specified	Uncertain significance (Oct 25, 2023)
12-18282538-A-G		not specified	Uncertain significance (Dec 01, 2022)
12-18282565-A-C		not specified	Uncertain significance (Jun 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RERGL	protein_coding	protein_coding	ENST00000229002	5	239239

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.45e-10	0.0409	125142	2	602	125746	0.00240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.250	110	103	1.07	0.00000499	1340
Missense in Polyphen		40	33.493	1.1943		391
Synonymous	0.217	35	36.7	0.954	0.00000166	380
Loss of Function	-0.348	14	12.7	1.11	8.89e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0134	0.0131
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00256	0.00253
Middle Eastern	0.000272	0.000272
South Asian	0.00246	0.00242
Other	0.00117	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds GDP/GTP and may possess intrinsic GTPase activity. {ECO:0000250}.

Intolerance Scores

• loftool: 0.733
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.41

Haploinsufficiency Scores

• pHI: 0.0757
• hipred: N
• hipred_score: 0.216
• ghis: 0.470

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rergl

Gene ontology

• Biological process: signal transduction
• Cellular component: membrane
• Molecular function: GTPase activity;GTP binding