RASSF5

Ras association domain family member 5, the group of Ras association domain family

Basic information

Region (hg38): 1:206507531-206589448

Links

ENSG00000266094 ∙ NCBI:83593 ∙ OMIM:607020 ∙ HGNC:17609 ∙ Uniprot:Q8WWW0 ∙ 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 RASSF5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF5 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			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	0	0

Variants in RASSF5

This is a list of pathogenic ClinVar variants found in the RASSF5 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-206507696-G-C		not specified	Uncertain significance (May 26, 2023)
1-206507712-C-T		not specified	Uncertain significance (Nov 18, 2023)
1-206507714-C-G		not specified	Uncertain significance (Jul 20, 2022)
1-206507732-C-T		not specified	Uncertain significance (Jan 22, 2024)
1-206507736-G-T		not specified	Uncertain significance (Feb 10, 2022)
1-206507742-C-T		not specified	Uncertain significance (Oct 12, 2021)
1-206507747-C-A		not specified	Uncertain significance (Apr 20, 2023)
1-206507762-C-T		not specified	Uncertain significance (Oct 27, 2023)
1-206507769-C-A		not specified	Uncertain significance (May 24, 2024)
1-206507769-C-G		not specified	Uncertain significance (Jul 11, 2022)
1-206507780-C-G		not specified	Uncertain significance (Nov 13, 2023)
1-206507786-G-A		not specified	Uncertain significance (Nov 28, 2023)
1-206507804-G-T		not specified	Uncertain significance (Mar 06, 2023)
1-206507834-C-G		not specified	Uncertain significance (Jun 11, 2024)
1-206507840-G-A		not specified	Uncertain significance (Jul 06, 2021)
1-206507843-C-G		not specified	Uncertain significance (Jul 25, 2023)
1-206507886-C-T		not specified	Uncertain significance (May 06, 2024)
1-206507946-T-G		not specified	Uncertain significance (Jan 26, 2022)
1-206507967-G-A		not specified	Uncertain significance (May 21, 2024)
1-206538201-C-T		not specified	Uncertain significance (Oct 04, 2022)
1-206538206-C-G		not specified	Uncertain significance (Mar 23, 2022)
1-206538247-G-A		not specified	Uncertain significance (Sep 01, 2021)
1-206583317-G-A		not specified	Uncertain significance (Apr 24, 2024)
1-206583351-G-A		not specified	Uncertain significance (Jul 06, 2021)
1-206584514-C-T		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potential tumor suppressor. Seems to be involved in lymphocyte adhesion by linking RAP1A activation upon T-cell receptor or chemokine stimulation to integrin activation. Isoform 2 stimulates lymphocyte polarization and the patch-like distribution of ITGAL/LFA-1, resulting in an enhanced adhesion to ICAM1. Together with RAP1A may participate in regulation of microtubule growth. The association of isoform 2 with activated RAP1A is required for directional movement of endothelial cells during wound healing. May be involved in regulation of Ras apoptotic function. The RASSF5-STK4/MST1 complex may mediate HRAS and KRAS induced apoptosis. {ECO:0000269|PubMed:12676952, ECO:0000269|PubMed:12845325, ECO:0000269|PubMed:15569673}.
• Pathway: Non-small cell lung cancer - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Fibrin Complement Receptor 3 Signaling Pathway;Ras Signaling;TCR signaling in naïve CD8+ T cells;TCR signaling in naïve CD4+ T cells (Consensus)

Haploinsufficiency Scores

• pHI: 0.157
• hipred: Y
• hipred_score: 0.662
• ghis: 0.444

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.743

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rassf5
• Phenotype: neoplasm; hematopoietic system 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); renal/urinary system phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: apoptotic process;negative regulation of cell population proliferation;positive regulation of protein ubiquitination;intracellular signal transduction;regulation of apoptotic process;regulation of protein localization to nucleus
• Cellular component: nucleus;cytoplasm;microtubule
• Molecular function: protein binding;Ras GTPase binding;metal ion binding