RASSF3

Ras association domain family member 3, the group of Ras association domain family|MicroRNA protein coding host genes

Basic information

Region (hg38): 12:64507000-64697564

Links

ENSG00000153179 ∙ NCBI:283349 ∙ OMIM:607019 ∙ HGNC:14271 ∙ Uniprot:Q86WH2 ∙ 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 RASSF3 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF3 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in RASSF3

This is a list of pathogenic ClinVar variants found in the RASSF3 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-64610662-G-C		not specified	Uncertain significance (Dec 28, 2023)
12-64684841-G-C		not specified	Uncertain significance (Nov 30, 2021)
12-64684884-A-G		not specified	Uncertain significance (Mar 20, 2023)
12-64688273-C-G		not specified	Uncertain significance (Feb 12, 2024)
12-64688288-A-G		not specified	Uncertain significance (Nov 12, 2021)
12-64688349-C-G		not specified	Uncertain significance (May 18, 2023)
12-64688372-G-A		not specified	Uncertain significance (May 26, 2022)
12-64691563-A-G		not specified	Uncertain significance (Jan 04, 2022)
12-64691569-A-C		not specified	Uncertain significance (Feb 10, 2022)
12-64694811-G-C		not specified	Uncertain significance (Oct 13, 2021)
12-64694857-C-G		not specified	Uncertain significance (May 28, 2023)
12-64694859-G-T		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASSF3	protein_coding	protein_coding	ENST00000542104	5	87055

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000178	0.462	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.156	126	131	0.962	0.00000694	1576
Missense in Polyphen		42	48.372	0.86827		598
Synonymous	-0.297	50	47.4	1.05	0.00000239	431
Loss of Function	0.493	8	9.65	0.829	4.06e-7	128

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000618	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000665	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000704	0.0000703
Middle Eastern	0.0000665	0.0000544
South Asian	0.000171	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0911

Intolerance Scores

• loftool: 0.528
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.4

Haploinsufficiency Scores

• pHI: 0.0918
• hipred: Y
• hipred_score: 0.579
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.336

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rassf3

Gene ontology

• Biological process: signal transduction;regulation of apoptotic process
• Cellular component: cytosol;microtubule;plasma membrane
• Molecular function: protein binding;identical protein binding