RALGDS

ral guanine nucleotide dissociation stimulator

Basic information

Region (hg38): 9:133097720-133149334

Links

ENSG00000160271

∙ NCBI:5900 ∙ OMIM:601619 ∙ HGNC:9842 ∙ Uniprot:Q12967 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

complex neurodevelopmental disorder (Limited), mode of inheritance: AR
neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RALGDS gene.

not_specified (108 variants)
not_provided (32 variants)
Hereditary_breast_ovarian_cancer_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RALGDS gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006266.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	12 clinvar	12 clinvar	25
missense			105 clinvar	9 clinvar	1 clinvar	115
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	106	21	13

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RALGDS	protein_coding	protein_coding	ENST00000372050	18	66195

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.888	0.112	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.47	424	518	0.819	0.0000339	5846
Missense in Polyphen		68	86.103	0.78975		981
Synonymous	-1.23	247	224	1.10	0.0000162	1869
Loss of Function	4.89	8	42.4	0.189	0.00000200	511

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000867	0.0000867
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.000437	0.000435
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000711	0.0000703
Middle Eastern	0.000437	0.000435
South Asian	0.0000330	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Stimulates the dissociation of GDP from the Ras-related RalA and RalB GTPases which allows GTP binding and activation of the GTPases. Interacts and acts as an effector molecule for R-Ras, H-Ras, K-Ras, and Rap.;
Pathway: Choline metabolism in cancer - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Human Thyroid Stimulating Hormone (TSH) signaling pathway;Chromosomal and microsatellite instability in colorectal cancer;Ras Signaling;EGF-EGFR Signaling Pathway;Signal Transduction;ras signaling pathway;p38MAPK events;Signalling to RAS;Signalling to ERKs;Signaling by NTRK1 (TRKA);Signaling by NTRKs;EGFR1;ErbB1 downstream signaling;Signaling by Receptor Tyrosine Kinases (Consensus)

Recessive Scores

pRec: 0.161

Intolerance Scores

loftool: 0.515
rvis_EVS: -1.34
rvis_percentile_EVS: 4.64

Haploinsufficiency Scores

pHI: 0.482
hipred: Y
hipred_score: 0.695
ghis: 0.546

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
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	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Ralgds
Phenotype: neoplasm; homeostasis/metabolism phenotype;

Gene ontology

Biological process: Ras protein signal transduction;regulation of catalytic activity
Cellular component: nucleus;cytosol;brush border
Molecular function: guanyl-nucleotide exchange factor activity;protein binding;GTPase regulator activity