RASEF

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

Basic information

Region (hg38): 9:82979590-83063177

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.

• not_specified (105 variants)
• not_provided (1 variants)
• RASEF-related_disorder (1 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. These statistics are base on transcript: NM_000152573.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			102	3		105
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	102	4	0

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