RIPOR3

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

Basic information

Region (hg38): 20:50586107-50691542

Previous symbols: [ "C20orf175", "C20orf176", "FAM65C" ]

Links

ENSG00000042062 ∙ NCBI:140876 ∙ ∙ HGNC:16168 ∙ Uniprot:Q96MK2 ∙ 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 RIPOR3 gene.

• Inborn genetic diseases (31 variants)
• not provided (2 variants)
• Malignant tumor of prostate (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIPOR3 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				1		1
missense			29	3		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	4	0

Variants in RIPOR3

This is a list of pathogenic ClinVar variants found in the RIPOR3 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-50587318-A-T		not specified	Uncertain significance (Apr 05, 2023)
20-50587321-G-A		not specified	Uncertain significance (Nov 15, 2021)
20-50587822-C-T		not specified	Uncertain significance (Aug 17, 2022)
20-50587835-G-A		not specified	Uncertain significance (Feb 21, 2024)
20-50587838-C-A		not specified	Uncertain significance (Jan 22, 2024)
20-50587838-C-T		not specified	Uncertain significance (Jan 29, 2024)
20-50587844-C-T		not specified	Uncertain significance (Oct 29, 2021)
20-50589730-C-T		not specified	Uncertain significance (Mar 02, 2023)
20-50592352-G-A		not specified	Uncertain significance (May 17, 2023)
20-50592385-G-A		not specified	Uncertain significance (Jan 07, 2022)
20-50592450-G-A		not specified	Uncertain significance (Sep 14, 2023)
20-50592480-C-T		not specified	Uncertain significance (Jun 24, 2022)
20-50592504-A-C		not specified	Uncertain significance (Jun 22, 2021)
20-50592504-A-G		not specified	Likely benign (Jun 26, 2023)
20-50592519-G-A		not specified	Uncertain significance (May 24, 2023)
20-50593065-C-T		not specified	Uncertain significance (Oct 30, 2023)
20-50593077-C-T		not specified	Uncertain significance (Aug 30, 2022)
20-50593137-G-T		not specified	Uncertain significance (May 10, 2022)
20-50593149-G-A		not specified	Uncertain significance (Jul 06, 2021)
20-50593190-C-T		not specified	Uncertain significance (Jan 10, 2023)
20-50593191-G-A		not specified	Uncertain significance (Feb 28, 2024)
20-50594624-G-A		not specified	Uncertain significance (Feb 16, 2023)
20-50594627-G-A		not specified	Uncertain significance (Apr 28, 2023)
20-50595377-A-G		not specified	Uncertain significance (May 26, 2023)
20-50595419-A-G		not specified	Uncertain significance (Aug 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RIPOR3	protein_coding	protein_coding	ENST00000327979	21	105421

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.01e-20	0.0908	125029	14	705	125748	0.00286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0493	566	563	1.01	0.0000369	6044
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00182	0.00176
Ashkenazi Jewish	0.00	0.00
East Asian	0.000224	0.000217
Finnish	0.0266	0.0262
European (Non-Finnish)	0.000879	0.000844
Middle Eastern	0.000224	0.000217
South Asian	0.000460	0.000457
Other	0.000824	0.000815

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.72
• rvis_percentile_EVS: 14.3

Haploinsufficiency Scores

• pHI: 0.207
• hipred: N
• hipred_score: 0.146
• ghis: 0.547

Mouse Genome Informatics

• Gene name: Ripor3