REM1

RRAD and GEM like GTPase 1, the group of RGK type GTPase family

Basic information

Region (hg38): 20:31475288-31484895

Previous symbols: [ "REM" ]

Links

ENSG00000088320 ∙ NCBI:28954 ∙ OMIM:610388 ∙ HGNC:15922 ∙ Uniprot:O75628 ∙ 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 REM1 gene.

• not_specified (44 variants)
• not_provided (1 variants)
• Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the REM1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014012.6. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			43	2	1	46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	2	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
REM1	protein_coding	protein_coding	ENST00000201979	4	9613

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.34e-8	0.239	125689	1	57	125747	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.672	169	195	0.865	0.0000134	1862
Missense in Polyphen		60	73.137	0.82038		654
Synonymous	0.413	73	77.6	0.940	0.00000465	660
Loss of Function	0.382	12	13.5	0.888	8.82e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000494	0.000494
Ashkenazi Jewish	0.00	0.00
East Asian	0.000166	0.000163
Finnish	0.0000947	0.0000924
European (Non-Finnish)	0.000284	0.000273
Middle Eastern	0.000166	0.000163
South Asian	0.000132	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling.

Recessive Scores

• pRec: 0.124

Intolerance Scores

• loftool: 0.588
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.91

Haploinsufficiency Scores

• pHI: 0.224
• hipred: N
• hipred_score: 0.275
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.758

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rem1

Gene ontology

• Biological process: signal transduction;negative regulation of high voltage-gated calcium channel activity
• Cellular component: plasma membrane
• Molecular function: GTPase activity;calcium channel regulator activity;calmodulin binding;GTP binding