RASSF6

Ras association domain family member 6, the group of Ras association domain family

Basic information

Region (hg38): 4:73571550-73620631

Links

ENSG00000169435 ∙ NCBI:166824 ∙ OMIM:612620 ∙ HGNC:20796 ∙ Uniprot:Q6ZTQ3 ∙ 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 RASSF6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF6 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					1	1
missense			29	2		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	31	2	1

Variants in RASSF6

This is a list of pathogenic ClinVar variants found in the RASSF6 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-73576293-G-A		not specified	Uncertain significance (Jan 10, 2023)
4-73576294-C-T		not specified	Uncertain significance (Nov 02, 2023)
4-73576478-A-T			Benign (Dec 14, 2017)
4-73576485-T-A		not specified	Uncertain significance (Sep 20, 2023)
4-73576507-C-T		not specified	Uncertain significance (Sep 01, 2021)
4-73576654-T-C		not specified	Uncertain significance (Feb 13, 2024)
4-73576656-C-A		not specified	Uncertain significance (Sep 17, 2021)
4-73576656-C-T		not specified	Uncertain significance (Jul 12, 2023)
4-73581819-C-T		not specified	Uncertain significance (Mar 04, 2024)
4-73582245-C-T		not specified	Likely benign (Apr 17, 2024)
4-73585225-T-A		not specified	Uncertain significance (Mar 04, 2024)
4-73585287-T-C		not specified	Uncertain significance (Mar 07, 2023)
4-73585342-G-T		not specified	Uncertain significance (Nov 08, 2022)
4-73587882-T-C		not specified	Uncertain significance (Feb 21, 2024)
4-73587893-C-G		not specified	Uncertain significance (Apr 13, 2023)
4-73587909-C-G		not specified	Uncertain significance (Oct 03, 2022)
4-73587917-T-A		not specified	Uncertain significance (Oct 18, 2021)
4-73587926-C-T		not specified	Uncertain significance (Dec 13, 2022)
4-73587927-G-A		not specified	Uncertain significance (Mar 29, 2022)
4-73593461-A-G		not specified	Uncertain significance (Apr 07, 2022)
4-73593481-A-C		not specified	Uncertain significance (Mar 16, 2024)
4-73593496-G-A		not specified	Uncertain significance (Sep 29, 2022)
4-73593589-T-C		not specified	Uncertain significance (Nov 07, 2022)
4-73598649-T-A		not specified	Uncertain significance (Sep 29, 2023)
4-73598657-G-A		not specified	Uncertain significance (Jun 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASSF6	protein_coding	protein_coding	ENST00000342081	11	49082

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.74e-26	0.00000220	125304	1	436	125741	0.00174

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.19	225	180	1.25	0.00000857	2440
Missense in Polyphen		69	50.147	1.376		701
Synonymous	-1.28	72	59.4	1.21	0.00000296	630
Loss of Function	-2.46	32	20.1	1.59	9.55e-7	265

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00527	0.00525
Ashkenazi Jewish	0.000696	0.000695
East Asian	0.0137	0.0137
Finnish	0.0000940	0.0000924
European (Non-Finnish)	0.000479	0.000457
Middle Eastern	0.0137	0.0137
South Asian	0.000948	0.000915
Other	0.000352	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the induction of apoptosis, through both caspase-dependent and caspase-independent pathways. May act as a Ras effector protein. May suppress the serum-induced basal levels of NF-kappa-B (By similarity). {ECO:0000250, ECO:0000269|PubMed:17367779}.
• Pathway: Hippo signaling pathway - Homo sapiens (human);Hippo signaling pathway - multiple species - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0974

Intolerance Scores

• loftool: 0.990
• rvis_EVS: 1.33
• rvis_percentile_EVS: 94.17

Haploinsufficiency Scores

• pHI: 0.0871
• hipred: N
• hipred_score: 0.398
• ghis: 0.419

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.129

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rassf6

Gene ontology

• Biological process: apoptotic process;signal transduction;regulation of apoptotic process
• Molecular function: protein binding