RALYL

RALY RNA binding protein like, the group of RNA binding motif containing

Basic information

Region (hg38): 8:84182787-84921844

Links

ENSG00000184672 ∙ NCBI:138046 ∙ OMIM:614648 ∙ HGNC:27036 ∙ Uniprot:Q86SE5 ∙ 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 RALYL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RALYL 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			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	0	0

Variants in RALYL

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

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

Position	Type	Phenotype	Significance	ClinVar
8-84185007-A-C		not specified	Uncertain significance (Dec 14, 2023)
8-84529428-T-C		not specified	Uncertain significance (Dec 31, 2023)
8-84774634-G-C		not specified	Uncertain significance (Jan 10, 2023)
8-84849993-G-T		not specified	Uncertain significance (May 04, 2023)
8-84862313-G-T		not specified	Uncertain significance (Apr 04, 2023)
8-84862324-C-G		not specified	Uncertain significance (Jan 26, 2022)
8-84862333-C-T		not specified	Uncertain significance (Jan 10, 2023)
8-84862334-G-A		not specified	Uncertain significance (Jan 04, 2022)
8-84862382-G-A		not specified	Uncertain significance (May 04, 2023)
8-84862407-G-A		not specified	Uncertain significance (Sep 12, 2023)
8-84862417-T-A		not specified	Uncertain significance (Jul 06, 2021)
8-84873311-A-G		not specified	Uncertain significance (Apr 04, 2023)
8-84873358-C-T		not specified	Uncertain significance (Jun 05, 2023)
8-84873359-G-T		not specified	Uncertain significance (Dec 15, 2022)
8-84873371-T-C		not specified	Uncertain significance (Apr 12, 2024)
8-84873389-C-T		not specified	Uncertain significance (Mar 29, 2024)
8-84887610-A-G		not specified	Uncertain significance (Apr 17, 2023)
8-84887630-A-G		not specified	Uncertain significance (Jan 26, 2022)
8-84887649-A-G		not specified	Uncertain significance (Mar 25, 2024)
8-84887655-G-A		not specified	Uncertain significance (Aug 15, 2023)
8-84887676-A-C		not specified	Uncertain significance (Oct 05, 2023)
8-84887753-G-A		not specified	Uncertain significance (Mar 01, 2023)
8-84887761-T-A		not specified	Uncertain significance (Feb 28, 2024)
8-84920895-T-G		not specified	Uncertain significance (Jan 08, 2024)
8-84920903-A-T		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RALYL	protein_coding	protein_coding	ENST00000517638	9	739058

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.459	0.540	124617	0	4	124621	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.931	127	160	0.793	0.00000902	1945
Missense in Polyphen		31	43.232	0.71705		514
Synonymous	0.667	51	57.4	0.888	0.00000341	562
Loss of Function	2.78	3	14.3	0.209	6.94e-7	216

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000370	0.0000354
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.842
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

• pHI: 0.212
• hipred: N
• hipred_score: 0.350
• ghis: 0.628

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.813

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ralyl

Gene ontology

• Cellular component: nucleus
• Molecular function: RNA binding;protein binding;identical protein binding