RASSF1
Ras association domain family member 1, the group of Ras association domain family
Basic information
Region (hg38): 3:50329782-50340980
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF1 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 | 3 | |||||
| missense | 15 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 15 | 1 | 2 |
Variants in RASSF1
This is a list of pathogenic ClinVar variants found in the RASSF1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 3-50330599-G-C | not specified | Uncertain significance (Nov 21, 2023) | ||
| 3-50330603-A-G | not specified | Uncertain significance (Oct 05, 2021) | ||
| 3-50330624-C-T | not specified | Uncertain significance (Jun 21, 2023) | ||
| 3-50330655-G-A | not specified | Uncertain significance (Mar 31, 2024) | ||
| 3-50330721-C-T | not specified | Uncertain significance (Oct 12, 2022) | ||
| 3-50331411-G-A | not specified | Uncertain significance (Sep 30, 2021) | ||
| 3-50331426-C-G | not specified | Uncertain significance (Oct 26, 2021) | ||
| 3-50331566-G-A | Benign (Jul 13, 2018) | |||
| 3-50331571-G-A | not specified | Uncertain significance (Jun 22, 2024) | ||
| 3-50331579-C-T | not specified | Uncertain significance (Dec 07, 2022) | ||
| 3-50331600-C-T | not specified | Uncertain significance (May 10, 2024) | ||
| 3-50331620-G-C | not specified | Uncertain significance (Jan 07, 2022) | ||
| 3-50331627-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
| 3-50331642-A-G | not specified | Uncertain significance (Jan 06, 2023) | ||
| 3-50331747-C-T | not specified | Uncertain significance (Mar 20, 2023) | ||
| 3-50331753-C-T | not specified | Uncertain significance (May 18, 2023) | ||
| 3-50331793-C-T | not specified | Uncertain significance (Nov 06, 2023) | ||
| 3-50331836-T-C | Benign (Jul 16, 2018) | |||
| 3-50332148-G-T | not specified | Uncertain significance (Jun 11, 2024) | ||
| 3-50337275-G-A | Likely benign (Jul 01, 2023) | |||
| 3-50340624-G-C | not specified | Uncertain significance (Mar 31, 2022) | ||
| 3-50340732-C-T | not specified | Uncertain significance (May 03, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RASSF1 | protein_coding | protein_coding | ENST00000357043 | 6 | 11193 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000493 | 0.663 | 125714 | 1 | 30 | 125745 | 0.000123 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.338 | 187 | 200 | 0.933 | 0.0000124 | 2166 |
| Missense in Polyphen | 68 | 72.71 | 0.93522 | 857 | ||
| Synonymous | 0.252 | 76 | 78.8 | 0.964 | 0.00000394 | 719 |
| Loss of Function | 1.00 | 10 | 14.1 | 0.711 | 7.79e-7 | 154 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000213 | 0.000211 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000111 | 0.000109 |
| Finnish | 0.000281 | 0.000277 |
| European (Non-Finnish) | 0.0000809 | 0.0000791 |
| Middle Eastern | 0.000111 | 0.000109 |
| South Asian | 0.000333 | 0.000294 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Potential tumor suppressor. Required for death receptor- dependent apoptosis. Mediates activation of STK3/MST2 and STK4/MST1 during Fas-induced apoptosis by preventing their dephosphorylation. When associated with MOAP1, promotes BAX conformational change and translocation to mitochondrial membranes in response to TNF and TNFSF10 stimulation. Isoform A interacts with CDC20, an activator of the anaphase-promoting complex, APC, resulting in the inhibition of APC activity and mitotic progression. Inhibits proliferation by negatively regulating cell cycle progression at the level of G1/S-phase transition by regulating accumulation of cyclin D1 protein. Isoform C has been shown not to perform these roles, no function has been identified for this isoform. Isoform A disrupts interactions among MDM2, DAXX and USP7, thus contributing to the efficient activation of TP53 by promoting MDM2 self-ubiquitination in cell-cycle checkpoint control in response to DNA damage. {ECO:0000269|PubMed:10888881, ECO:0000269|PubMed:11333291, ECO:0000269|PubMed:12024041, ECO:0000269|PubMed:14743218, ECO:0000269|PubMed:15109305, ECO:0000269|PubMed:15949439, ECO:0000269|PubMed:16510573, ECO:0000269|PubMed:18566590, ECO:0000269|PubMed:21199877}.;
- Pathway
- Non-small cell lung cancer - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Hippo signaling pathway - multiple species - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Bladder Cancer;Ras Signaling;p53 pathway
(Consensus)
Recessive Scores
- pRec
- 0.424
Intolerance Scores
- loftool
- 0.858
- rvis_EVS
- 0.66
- rvis_percentile_EVS
- 84.55
Haploinsufficiency Scores
- pHI
- 0.338
- hipred
- N
- hipred_score
- 0.471
- ghis
- 0.482
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.747
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rassf1
- Phenotype
- endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular 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); normal 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); neoplasm; liver/biliary system phenotype; digestive/alimentary phenotype;
Gene ontology
- Biological process
- cell cycle arrest;Ras protein signal transduction;regulation of microtubule cytoskeleton organization
- Cellular component
- spindle pole;nucleus;cytoplasm;microtubule organizing center;microtubule;microtubule cytoskeleton
- Molecular function
- protein binding;zinc ion binding