RASSF7

Ras association domain family member 7, the group of Ras association domain family|Cilia and flagella associated

Basic information

Region (hg38): 11:560404-564025

Previous symbols: [ "C11orf13" ]

Links

ENSG00000099849 ∙ NCBI:8045 ∙ OMIM:143023 ∙ HGNC:1166 ∙ Uniprot:Q02833 ∙ 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 RASSF7 gene.

• not_specified (84 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003475.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			82	3	1	86
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	82	5	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASSF7	protein_coding	protein_coding	ENST00000397583	5	3618

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.25e-11	0.0372	125338	0	55	125393	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.57	295	228	1.29	0.0000147	2289
Missense in Polyphen		102	83.695	1.2187		882
Synonymous	-2.53	127	95.6	1.33	0.00000574	860
Loss of Function	-0.154	16	15.3	1.04	8.83e-7	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000909	0.000903
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000553	0.0000544
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000155	0.000150
Middle Eastern	0.0000553	0.0000544
South Asian	0.000242	0.000229
Other	0.000507	0.000490

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Negatively regulates stress-induced JNK activation and apoptosis by promoting MAP2K7 phosphorylation and inhibiting its ability to activate JNK. Following prolonged stress, anti- apoptotic effect stops because of degradation of RASSF7 protein via the ubiquitin-proteasome pathway. Required for the activation of AURKB and chromosomal congression during mitosis where it stimulates microtubule polymerization. {ECO:0000269|PubMed:20629633, ECO:0000269|PubMed:21278800}.
• Pathway: Regulation of Actin Cytoskeleton (Consensus)

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.369
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.52

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.146
• ghis: 0.424

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.965

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rassf7

Gene ontology

• Biological process: apoptotic process;signal transduction;regulation of microtubule cytoskeleton organization
• Cellular component: cytoplasm;microtubule organizing center
• Molecular function: protein binding