CLUL1

clusterin like 1

Basic information

Region (hg38): 18:596987-650334

Links

ENSG00000079101 ∙ NCBI:27098 ∙ OMIM:616990 ∙ HGNC:2096 ∙ Uniprot:Q15846 ∙ 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 CLUL1 gene.

• Inborn genetic diseases (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLUL1 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			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	0

Variants in CLUL1

This is a list of pathogenic ClinVar variants found in the CLUL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-618032-G-T		not specified	Uncertain significance (May 09, 2023)
18-618061-G-A		not specified	Uncertain significance (Mar 07, 2023)
18-618067-A-G		not specified	Uncertain significance (Jan 02, 2024)
18-619260-G-C		not specified	Uncertain significance (Dec 06, 2022)
18-619282-T-C		not specified	Uncertain significance (Aug 21, 2023)
18-619313-A-T		not specified	Uncertain significance (Nov 21, 2023)
18-624878-T-A		not specified	Uncertain significance (May 01, 2023)
18-624955-T-C		not specified	Uncertain significance (Mar 07, 2024)
18-624968-T-C		not specified	Uncertain significance (Apr 28, 2023)
18-625004-A-C		not specified	Uncertain significance (May 06, 2022)
18-625012-T-C		not specified	Uncertain significance (May 24, 2023)
18-627200-A-G		not specified	Uncertain significance (Jan 16, 2024)
18-627250-T-A		not specified	Uncertain significance (Mar 06, 2023)
18-627251-C-G		not specified	Uncertain significance (Mar 06, 2023)
18-627274-G-A		not specified	Uncertain significance (Nov 05, 2021)
18-627313-C-G		not specified	Uncertain significance (May 11, 2022)
18-627325-A-G		not specified	Uncertain significance (Feb 07, 2023)
18-627328-T-C		not specified	Uncertain significance (Sep 26, 2022)
18-633326-G-T		not specified	Uncertain significance (Jan 30, 2024)
18-633327-A-T		not specified	Uncertain significance (Jan 30, 2024)
18-633345-A-G		not specified	Uncertain significance (Jun 29, 2022)
18-633366-G-T		not specified	Uncertain significance (Nov 17, 2022)
18-633370-A-G		not specified	Uncertain significance (Mar 05, 2024)
18-641341-C-A		not specified	Uncertain significance (Jul 09, 2021)
18-641365-G-A		not specified	Uncertain significance (Mar 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLUL1	protein_coding	protein_coding	ENST00000400606	8	53347

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.61e-11	0.110	124707	1	87	124795	0.000353

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.639	212	240	0.884	0.0000115	3155
Missense in Polyphen		37	54.368	0.68055		782
Synonymous	-1.08	99	86.2	1.15	0.00000454	799
Loss of Function	0.489	18	20.4	0.883	8.64e-7	267

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000846	0.000846
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000223
Finnish	0.0000928	0.0000928
European (Non-Finnish)	0.000389	0.000388
Middle Eastern	0.000223	0.000223
South Asian	0.000492	0.000458
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0881

Intolerance Scores

• loftool: 0.775
• rvis_EVS: 0.66
• rvis_percentile_EVS: 84.55

Haploinsufficiency Scores

• pHI: 0.0953
• hipred: N
• hipred_score: 0.123
• ghis: 0.418

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00757

Gene Damage Prediction

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

Gene ontology

• Cellular component: extracellular space;nucleus
• Molecular function: misfolded protein binding