RASSF9

Ras association domain family member 9, the group of Ras association domain family

Basic information

Region (hg38): 12:85800703-85836409

Previous symbols: [ "PAMCI" ]

Links

ENSG00000198774 ∙ NCBI:9182 ∙ OMIM:610383 ∙ HGNC:15739 ∙ Uniprot:O75901 ∙ 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 RASSF9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RASSF9 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			36	1		37
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	1	0

Variants in RASSF9

This is a list of pathogenic ClinVar variants found in the RASSF9 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-85804798-A-C		not specified	Uncertain significance (Dec 08, 2023)
12-85804865-G-A		not specified	Likely benign (Jul 12, 2022)
12-85804890-C-T		not specified	Uncertain significance (Jan 16, 2024)
12-85804931-A-G		not specified	Uncertain significance (Jul 14, 2024)
12-85804963-C-A		not specified	Uncertain significance (Nov 07, 2023)
12-85805036-C-T		not specified	Uncertain significance (Oct 12, 2021)
12-85805049-C-T		not specified	Uncertain significance (Oct 07, 2024)
12-85805057-A-G		not specified	Uncertain significance (Sep 07, 2022)
12-85805066-A-G		not specified	Uncertain significance (Dec 01, 2022)
12-85805105-G-A		not specified	Uncertain significance (Dec 28, 2023)
12-85805115-TTA-T		Premature coronary artery atherosclerosis	Uncertain significance (Nov 22, 2023)
12-85805207-T-G		not specified	Uncertain significance (May 23, 2023)
12-85805233-G-C		not specified	Uncertain significance (Oct 08, 2024)
12-85805282-A-C		not specified	Uncertain significance (Jan 20, 2023)
12-85805324-T-G		not specified	Uncertain significance (Dec 20, 2023)
12-85805352-G-A		not specified	Uncertain significance (Jun 18, 2021)
12-85805395-T-A		not specified	Uncertain significance (Jan 30, 2024)
12-85805395-T-G		not specified	Uncertain significance (Apr 07, 2022)
12-85805404-C-G		not specified	Uncertain significance (Apr 12, 2023)
12-85805469-C-T		not specified	Uncertain significance (May 26, 2024)
12-85805520-T-C		not specified	Uncertain significance (Sep 27, 2021)
12-85805547-C-A		not specified	Uncertain significance (Jun 18, 2021)
12-85805640-G-A		not specified	Uncertain significance (Nov 27, 2023)
12-85805658-C-T		not specified	Uncertain significance (Mar 25, 2024)
12-85805681-A-T		not specified	Uncertain significance (May 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RASSF9	protein_coding	protein_coding	ENST00000361228	2	32018

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.40e-8	0.373	124478	0	157	124635	0.000630

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.132	214	220	0.975	0.0000112	2897
Missense in Polyphen		67	64.184	1.0439		840
Synonymous	-0.192	84	81.8	1.03	0.00000431	794
Loss of Function	0.790	14	17.6	0.797	0.00000119	207

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00196	0.00196
Ashkenazi Jewish	0.00	0.00
East Asian	0.000334	0.000334
Finnish	0.0000930	0.0000928
European (Non-Finnish)	0.000470	0.000460
Middle Eastern	0.000334	0.000334
South Asian	0.00163	0.00164
Other	0.00149	0.00149

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in regulating vesicuar trafficking in cells. {ECO:0000250}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.883
• rvis_EVS: 0.38
• rvis_percentile_EVS: 75.51

Haploinsufficiency Scores

• pHI: 0.228
• hipred: N
• hipred_score: 0.251
• ghis: 0.472

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.591

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rassf9
• Phenotype: growth/size/body region 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); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; respiratory 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)

Gene ontology

• Biological process: protein targeting;signal transduction;endosomal transport;intracellular transport
• Cellular component: endosome;cytosol;trans-Golgi network transport vesicle membrane;recycling endosome;extracellular exosome
• Molecular function: transporter activity;protein binding