RIPPLY3

ripply transcriptional repressor 3

Basic information

Region (hg38): 21:37006150-37019662

Previous symbols: [ "DSCR6" ]

Links

ENSG00000183145 ∙ NCBI:53820 ∙ OMIM:609892 ∙ HGNC:3047 ∙ Uniprot:P57055 ∙ 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 RIPPLY3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIPPLY3 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			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in RIPPLY3

This is a list of pathogenic ClinVar variants found in the RIPPLY3 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-37006839-G-A		not specified	Uncertain significance (Mar 16, 2022)
21-37008179-A-G		not specified	Uncertain significance (Dec 28, 2023)
21-37008200-G-A		not specified	Uncertain significance (Aug 11, 2022)
21-37008216-G-C		not specified	Uncertain significance (Aug 17, 2022)
21-37013570-A-C		not specified	Uncertain significance (Mar 31, 2023)
21-37013579-T-A		not specified	Uncertain significance (May 31, 2023)
21-37017897-G-A		not specified	Uncertain significance (Feb 22, 2023)
21-37017915-G-A		not specified	Uncertain significance (Apr 20, 2023)
21-37017920-G-A		not specified	Uncertain significance (Aug 30, 2021)
21-37017929-G-T		not specified	Uncertain significance (Nov 28, 2023)
21-37017960-T-A		not specified	Uncertain significance (Dec 14, 2023)
21-37017974-G-A		not specified	Uncertain significance (Jun 12, 2023)
21-37017981-C-G		not specified	Uncertain significance (Oct 03, 2022)
21-37017998-G-A		not specified	Uncertain significance (Mar 21, 2022)
21-37018022-C-A		not specified	Likely benign (Dec 14, 2023)
21-37018061-C-T		not specified	Uncertain significance (Feb 28, 2024)
21-37018108-C-A		not specified	Uncertain significance (Aug 30, 2021)
21-37018112-G-T		not specified	Uncertain significance (Jul 12, 2022)
21-37018142-T-A		not specified	Uncertain significance (Sep 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RIPPLY3	protein_coding	protein_coding	ENST00000329553	4	13510

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0836	0.770	125720	0	18	125738	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.287	100	92.2	1.08	0.00000524	1194
Missense in Polyphen		20	22.018	0.90836		281
Synonymous	0.0839	37	37.7	0.983	0.00000234	405
Loss of Function	1.07	2	4.43	0.451	2.75e-7	55

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000628	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000143	0.000141
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a transcriptional corepressor. Negative regulator of the transcriptional activity of TBX1. Plays a role in the development of the pharyngeal apparatus and derivatives (By similarity). {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.95
• rvis_percentile_EVS: 89.96

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ripply3
• Phenotype: endocrine/exocrine gland phenotype; craniofacial phenotype; homeostasis/metabolism phenotype; cellular phenotype; embryo phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); immune system phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;heart development;biological_process;negative regulation of cell population proliferation;embryonic pattern specification;pharyngeal system development
• Cellular component: nucleus