RADIL

Rap associating with DIL domain, the group of PDZ domain containing

Basic information

Region (hg38): 7:4797054-4883716

Links

ENSG00000157927 ∙ NCBI:55698 ∙ OMIM:611491 ∙ HGNC:22226 ∙ Uniprot:Q96JH8 ∙ 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 RADIL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RADIL 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				4	2	6
missense			90	7		97
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			42	2		44
Total	0	0	132	13	2

Variants in RADIL

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

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

Position	Type	Phenotype	Significance	ClinVar
7-4799386-G-A		not specified	Uncertain significance (Feb 16, 2023)
7-4799388-G-A		not specified	Uncertain significance (Feb 28, 2023)
7-4799389-G-A		not specified	Uncertain significance (Apr 06, 2022)
7-4799394-C-T		not specified	Uncertain significance (Jul 15, 2021)
7-4799416-T-C		not specified	Uncertain significance (Oct 14, 2023)
7-4799446-G-A		not specified	Uncertain significance (Feb 07, 2023)
7-4799461-C-T		not specified	Uncertain significance (Sep 28, 2022)
7-4799645-C-T		not specified	Uncertain significance (Aug 09, 2021)
7-4799680-G-A			Benign (Apr 04, 2018)
7-4799696-C-T		not specified	Uncertain significance (Feb 28, 2023)
7-4799709-C-T		not specified	Uncertain significance (Jun 11, 2021)
7-4799714-G-A		not specified	Uncertain significance (Dec 01, 2022)
7-4799734-C-G		not specified	Uncertain significance (Dec 13, 2022)
7-4799744-A-G		not specified	Uncertain significance (Sep 25, 2023)
7-4799754-C-T		not specified	Likely benign (Dec 09, 2023)
7-4799756-C-T		not specified	Uncertain significance (May 15, 2023)
7-4799769-G-T		not specified	Uncertain significance (Feb 23, 2023)
7-4800206-G-A		not specified	Uncertain significance (Jun 22, 2023)
7-4800248-C-T		not specified	Uncertain significance (Aug 31, 2023)
7-4800253-C-A		not specified	Uncertain significance (Mar 07, 2024)
7-4800257-A-C		not specified	Uncertain significance (Aug 01, 2022)
7-4801697-C-G		not specified	Uncertain significance (Sep 22, 2023)
7-4801752-C-A			Likely benign (Jun 01, 2022)
7-4801770-G-A		not specified	Uncertain significance (May 01, 2024)
7-4801784-G-A		not specified	Uncertain significance (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RADIL	protein_coding	protein_coding	ENST00000399583	14	86665

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.27e-23	0.00290	124871	0	129	125000	0.000516

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.966	718	649	1.11	0.0000449	6721
Missense in Polyphen		220	218.08	1.0088		2341
Synonymous	-1.78	348	308	1.13	0.0000230	2293
Loss of Function	0.476	36	39.2	0.918	0.00000185	434

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00119	0.00113
Ashkenazi Jewish	0.000579	0.000496
East Asian	0.00141	0.00134
Finnish	0.000245	0.000232
European (Non-Finnish)	0.000536	0.000485
Middle Eastern	0.00141	0.00134
South Asian	0.000610	0.000588
Other	0.000167	0.000164

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development. {ECO:0000269|PubMed:17704304}.

Intolerance Scores

• loftool: 0.681
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.73

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.342
• ghis: 0.444

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.898

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Radil

Zebrafish Information Network

• Gene name: radil
• Affected structure: iridophore
• Phenotype tag: abnormal
• Phenotype quality: decreased pigmentation

Gene ontology

• Biological process: signal transduction;multicellular organism development;substrate adhesion-dependent cell spreading
• Cellular component: microtubule;protein-containing complex
• Molecular function: protein binding