RARRES1

retinoic acid receptor responder 1

Basic information

Region (hg38): 3:158696892-158732489

Links

ENSG00000118849 ∙ ∙ OMIM:605090 ∙ HGNC:9867 ∙ Uniprot:P49788 ∙ 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 RARRES1 gene.

• not_specified (52 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RARRES1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000206963.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			48	4		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6			6
Total	0	0	54	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RARRES1	protein_coding	protein_coding	ENST00000237696	6	35805

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.68e-9	0.0851	125696	0	50	125746	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.823	98	124	0.792	0.00000645	1857
Missense in Polyphen		23	34.461	0.66742		504
Synonymous	0.885	36	43.4	0.829	0.00000225	579
Loss of Function	-0.0818	13	12.7	1.02	6.06e-7	154

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00131	0.00130
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000553	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000116	0.000105
Middle Eastern	0.0000553	0.0000544
South Asian	0.000181	0.000163
Other	0.000495	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibitor of the cytoplasmic carboxypeptidase AGBL2, may regulate the alpha-tubulin tyrosination cycle. {ECO:0000269|PubMed:21303978}.

Recessive Scores

• pRec: 0.0818

Haploinsufficiency Scores

• pHI: 0.0975
• hipred: N
• hipred_score: 0.139
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0454

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rarres1

Gene ontology

• Biological process: negative regulation of cell population proliferation
• Cellular component: integral component of membrane;extracellular exosome