RASSF9

protein-coding

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

Gene summary

The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008]

Previous symbols:

PAMCI

MANE transcript

NM_005447.4

Inheritance

—

ClinVar variants

U:66B:2

Top phenotype

Premature coronary artery atherosclerosis

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr12:85,800,703-85,836,409

External References & Databases

Ensembl (ENSG00000198774)

Transcript & Mutation Effects

hg38 • Region Span ~35.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RASSF9 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 66

Premature coronary artery atherosclerosisTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005447.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			65 clinvar	2 clinvar		67
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	2	0	68

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005447.4	RefSeq	NP_005438.2	2	MANE Select
ENST00000361228.5	Ensembl	ENSP00000354884.3	2	MANE Select
ENST00001135080.1	Ensembl	ENSP00000808979.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein targeting
signal transduction
endosomal transport
intracellular transport

Molecular Function

transporter activity
protein binding

Cellular Component

endosome
cytosol
trans-Golgi network transport vesicle membrane
recycling endosome
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000361228
Coding exons: 2
Length: 32018
Individuals with no LoFs: 124478
Homozygous LoFs: 0
Heterozygous LoFs: 157
Defined: 124635
p: 0.000630

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.132	214	220	0.975	0.0000112	2897
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0016	0.0016	notable
Latino/Admixed American	0.00041	0.00041	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00033	0.00033	rare
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.00047	0.00046	rare
South Asian	0.0016	0.0016	notable
Other	0.0015	0.0015	notable

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.591

Gene Damage Prediction

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