RIPOR3

Gene

RIPOR family member 3, the group of MicroRNA protein coding host genes

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C20orf175
C20orf176
FAM65C

MANE transcript

NM_001290268.2

Inheritance

—

ClinVar variants

U:207B:17

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr20:50,586,108-50,691,542

External References & Databases

Ensembl (ENSG00000042062)

Transcript & Mutation Effects

hg38 • Region Span ~105.4 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 RIPOR3 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 215

not providedTotal: 2

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001290268.2. 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			1 clinvar	2 clinvar		3
missense			204 clinvar	15 clinvar		219
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	207	17	0	224

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 52 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001290268.2	RefSeq	NP_001277197.1	22	MANE Select
ENST00000327979.8	Ensembl	ENSP00000332663.3	22	MANE Select
NM_080829.4	RefSeq	NP_543019.2	21	Standard
ENST00000045083.6	Ensembl	ENSP00000045083.2	21	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000327979
Coding exons: 21
Length: 105421
Individuals with no LoFs: 125029
Homozygous LoFs: 14
Heterozygous LoFs: 705
Defined: 125748
p: 0.00286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0493	566	563	1.01	0.0000369	6044
Missense (PolyPhen)		157	174.16	0.90149		1983
Synonymous	-1.12	275	252	1.09	0.0000175	1939
Loss of Function	1.30	35	44.4	0.789	0.00000214	520

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0012	0.0011	notable
Latino/Admixed American	0.00065	0.00064	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.027	0.026	notable
European (Non-Finnish)	0.00088	0.00084	rare
South Asian	0.00046	0.00046	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: -0.72
RVIS percentile EVS: 14.3