CLLU1-AS1

CLLU1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:92420091-92433060

Previous symbols: [ "CLLU1OS" ]

Links

ENSG00000205057 ∙ NCBI:574016 ∙ OMIM:616989 ∙ HGNC:24070 ∙ Uniprot:Q5K130 ∙ 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 CLLU1-AS1 gene.

• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLLU1-AS1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	0	1	0

Variants in CLLU1-AS1

This is a list of pathogenic ClinVar variants found in the CLLU1-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-92421029-T-C		not specified	Uncertain significance (Oct 12, 2022)
12-92421095-G-A		not specified	Likely benign (Jan 25, 2023)
12-92421145-G-C		not specified	Uncertain significance (Jun 03, 2024)
12-92422570-G-C		not specified	Uncertain significance (Dec 06, 2022)
12-92422628-G-C		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLLU1-AS1	protein_coding	protein_coding	ENST00000378487	3	8055

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000284	0.355	125725	1	6	125732	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.156	48	51.1	0.939	0.00000231	647
Missense in Polyphen		8	4.3485	1.8397		47
Synonymous	-0.113	21	20.4	1.03	0.00000106	200
Loss of Function	-0.206	5	4.53	1.10	1.88e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000488	0.0000462
European (Non-Finnish)	0.00000899	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.000173	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.434
• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.85

Haploinsufficiency Scores

• pHI: 0.149
• hipred: N
• hipred_score: 0.146
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0542

Gene Damage Prediction

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