RASEF

RAS and EF-hand domain containing, the group of RAB, member RAS oncogene GTPases|EF-hand domain containing

Basic information

Region (hg38): 9:82979589-83063177

Previous symbols: [ "RAB45" ]

Links

ENSG00000165105 ∙ NCBI:158158 ∙ OMIM:611344 ∙ HGNC:26464 ∙ Uniprot:Q8IZ41 ∙ 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 RASEF gene.

• Inborn genetic diseases (39 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASEF 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			38	1		39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	1	0

Variants in RASEF

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

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

Position	Type	Phenotype	Significance	ClinVar
9-82982700-T-C		not specified	Uncertain significance (Oct 02, 2023)
9-82982706-G-A		not specified	Uncertain significance (Nov 16, 2021)
9-82982771-T-C		not specified	Uncertain significance (Dec 13, 2023)
9-82992991-A-G		not specified	Uncertain significance (Sep 20, 2023)
9-82993003-G-A		not specified	Uncertain significance (Dec 06, 2022)
9-82993007-C-T		not specified	Likely benign (Feb 15, 2023)
9-82998375-C-A		not specified	Uncertain significance (Jul 22, 2022)
9-82998414-C-A		not specified	Uncertain significance (Mar 04, 2024)
9-82998418-A-C		not specified	Uncertain significance (Aug 04, 2023)
9-83000291-T-C		not specified	Uncertain significance (Nov 14, 2023)
9-83000295-C-T		not specified	Uncertain significance (Dec 15, 2023)
9-83000307-C-T		not specified	Uncertain significance (Jan 26, 2023)
9-83000440-G-A		not specified	Uncertain significance (Sep 16, 2021)
9-83000441-A-G		not specified	Uncertain significance (Sep 16, 2021)
9-83000462-T-C		RASEF-related disorder	Likely benign (Feb 23, 2022)
9-83000482-C-G		not specified	Uncertain significance (Jun 23, 2023)
9-83000483-C-T		not specified	Uncertain significance (Mar 07, 2023)
9-83000502-G-T			Likely benign (Mar 01, 2024)
9-83000503-G-C		not specified	Uncertain significance (Jun 22, 2023)
9-83000555-C-T		not specified	Uncertain significance (Dec 21, 2022)
9-83000934-C-T		not specified	Uncertain significance (Apr 28, 2022)
9-83000938-G-C		not specified	Uncertain significance (Jan 16, 2024)
9-83000967-T-C		not specified	Uncertain significance (Nov 21, 2023)
9-83001060-T-C		not specified	Uncertain significance (Aug 13, 2021)
9-83001092-G-T		not specified	Uncertain significance (Nov 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASEF	protein_coding	protein_coding	ENST00000376447	17	83593

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.23e-9	0.999	125643	0	105	125748	0.000418

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0241	400	401	0.997	0.0000202	4832
Missense in Polyphen		141	144.06	0.97873		1917
Synonymous	1.74	123	150	0.819	0.00000754	1386
Loss of Function	2.88	21	40.9	0.514	0.00000232	461

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000529	0.000529
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00106	0.00106
European (Non-Finnish)	0.000513	0.000510
Middle Eastern	0.000109	0.000109
South Asian	0.000114	0.0000980
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds predominantly GDP, and also GTP. {ECO:0000269|PubMed:17448446}.

Intolerance Scores

• loftool: 0.571
• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.23

Haploinsufficiency Scores

• pHI: 0.0981
• hipred: N
• hipred_score: 0.427
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.443

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rasef

Gene ontology

• Biological process: protein homooligomerization
• Cellular component: cytosol;perinuclear region of cytoplasm
• Molecular function: GTPase activity;calcium ion binding;GTP binding;GDP binding;identical protein binding