RASSF8

Ras association domain family member 8, the group of Ras association domain family

Basic information

Region (hg38): 12:25958231-26079892

Previous symbols: [ "C12orf2" ]

Links

ENSG00000123094 ∙ NCBI:11228 ∙ OMIM:608231 ∙ HGNC:13232 ∙ Uniprot:Q8NHQ8 ∙ 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 RASSF8 gene.

• Inborn genetic diseases (22 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF8 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			22	2	1	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	2	1

Variants in RASSF8

This is a list of pathogenic ClinVar variants found in the RASSF8 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-26064501-G-A		not specified	Uncertain significance (Sep 12, 2023)
12-26064545-A-G		not specified	Uncertain significance (Mar 29, 2023)
12-26064600-A-T		not specified	Uncertain significance (Jul 20, 2022)
12-26064654-G-A		not specified	Uncertain significance (May 31, 2023)
12-26064660-C-T		not specified	Uncertain significance (Oct 18, 2021)
12-26064766-A-T		not specified	Uncertain significance (Feb 01, 2023)
12-26064870-G-T		not specified	Uncertain significance (Mar 21, 2022)
12-26064902-A-G		not specified	Uncertain significance (Aug 08, 2023)
12-26064906-G-A		not specified	Uncertain significance (Sep 06, 2022)
12-26064993-C-T		not specified	Uncertain significance (Nov 15, 2021)
12-26065001-G-C			Likely benign (Aug 30, 2018)
12-26065017-G-A			Likely benign (Aug 30, 2018)
12-26065030-G-T		not specified	Uncertain significance (Jun 16, 2023)
12-26065199-G-A		not specified	Uncertain significance (Jun 23, 2023)
12-26065214-G-A		not specified	Uncertain significance (Nov 14, 2023)
12-26065230-G-A			Benign (May 19, 2018)
12-26065327-G-T		not specified	Uncertain significance (Apr 28, 2022)
12-26067608-C-T		not specified	Uncertain significance (Jun 21, 2022)
12-26067659-G-A		not specified	Uncertain significance (Nov 18, 2022)
12-26067672-A-T		not specified	Uncertain significance (Jun 23, 2023)
12-26067680-G-A		not specified	Uncertain significance (Jan 11, 2023)
12-26067702-A-T		not specified	Uncertain significance (Sep 01, 2021)
12-26068699-G-A		not specified	Uncertain significance (Nov 07, 2022)
12-26068709-A-C		not specified	Uncertain significance (Mar 22, 2023)
12-26068741-C-T		not specified	Uncertain significance (Sep 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASSF8	protein_coding	protein_coding	ENST00000405154	4	120864

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.942	0.0584	125702	0	10	125712	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.10	175	221	0.791	0.0000115	2718
Missense in Polyphen		58	87.137	0.66562		1015
Synonymous	0.670	71	78.6	0.904	0.00000381	796
Loss of Function	3.78	3	22.2	0.135	0.00000136	243

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000534	0.0000528
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.124

Intolerance Scores

• loftool: 0.186
• rvis_EVS: -0.31
• rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

• pHI: 0.297
• hipred: Y
• hipred_score: 0.644
• ghis: 0.558

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.193

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rassf8
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: rassf8b
• Affected structure: blood cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: signal transduction;adherens junction maintenance