RIPOR1

RHO family interacting cell polarization regulator 1, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 16:67518418-67546788

Previous symbols: [ "FAM65A" ]

Links

ENSG00000039523 ∙ NCBI:79567 ∙ OMIM:619842 ∙ HGNC:25836 ∙ Uniprot:Q6ZS17 ∙ 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 RIPOR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIPOR1 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				3		3
missense			69	2		71
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	0	69	5	0

Variants in RIPOR1

This is a list of pathogenic ClinVar variants found in the RIPOR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-67538426-A-T		not specified	Uncertain significance (Jun 08, 2022)
16-67538436-G-A		not specified	Uncertain significance (Aug 27, 2024)
16-67538493-G-C		not specified	Uncertain significance (Jan 03, 2024)
16-67538528-G-A		not specified	Uncertain significance (Sep 07, 2022)
16-67538532-G-T		not specified	Uncertain significance (Dec 21, 2023)
16-67538541-G-A		not specified	Uncertain significance (Dec 13, 2021)
16-67538691-C-T		not specified	Uncertain significance (Aug 11, 2022)
16-67538701-C-T		not specified	Uncertain significance (Sep 27, 2021)
16-67538716-C-T		not specified	Uncertain significance (Sep 09, 2024)
16-67538738-G-T		not specified	Uncertain significance (Jan 06, 2023)
16-67538746-C-T		not specified	Uncertain significance (Apr 09, 2024)
16-67538760-G-A		not specified	Uncertain significance (Aug 28, 2024)
16-67539017-G-A			Likely benign (Jun 01, 2022)
16-67539025-A-G		not specified	Uncertain significance (Sep 20, 2023)
16-67539867-T-C		not specified	Uncertain significance (Feb 13, 2024)
16-67539874-G-C		not specified	Uncertain significance (Aug 21, 2024)
16-67539889-A-G		not specified	Uncertain significance (Oct 28, 2024)
16-67540089-C-T		not specified	Uncertain significance (Feb 22, 2023)
16-67540096-G-A		not specified	Uncertain significance (Oct 09, 2024)
16-67540120-G-A		not specified	Uncertain significance (Feb 23, 2023)
16-67540141-C-T		not specified	Uncertain significance (Jan 16, 2024)
16-67540150-G-A		not specified	Uncertain significance (May 03, 2023)
16-67540161-G-T		not specified	Uncertain significance (Nov 30, 2022)
16-67540171-C-T		not specified	Uncertain significance (Oct 12, 2024)
16-67540342-G-A		not specified	Uncertain significance (Jan 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RIPOR1	protein_coding	protein_coding	ENST00000422602	22	28371

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.949	0.0510	125721	0	24	125745	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.67	615	743	0.827	0.0000440	7933
Missense in Polyphen		122	171.45	0.7116		1806
Synonymous	1.57	269	304	0.886	0.0000170	2733
Loss of Function	5.71	11	57.9	0.190	0.00000336	575

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000290	0.000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000625	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration (PubMed:27807006). Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation (PubMed:27807006). Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation (PubMed:27807006). {ECO:0000269|PubMed:27807006}.

Recessive Scores

• pRec: 0.0895

Intolerance Scores

• rvis_EVS: -0.68
• rvis_percentile_EVS: 15.38

Haploinsufficiency Scores

• pHI: 0.208
• hipred: N
• hipred_score: 0.432
• ghis: 0.572

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ripor1

Gene ontology

• Biological process: Rho protein signal transduction;cellular response to starvation;response to wounding;positive regulation of cell migration;protein localization to Golgi apparatus;establishment of Golgi localization;positive regulation of intracellular protein transport
• Cellular component: cytoplasm;Golgi apparatus;vesicle membrane;membrane;extracellular exosome
• Molecular function: protein binding;14-3-3 protein binding