UBQLNL

ubiquilin like, the group of Ubiquilin family

Basic information

Region (hg38): 11:5514392-5518431

Links

ENSG00000175518 ∙ NCBI:143630 ∙ ∙ HGNC:28294 ∙ Uniprot:Q8IYU4 ∙ 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 UBQLNL gene.

• Inborn genetic diseases (20 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBQLNL 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			16	4	1	21
nonsense					1	1
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	4	3

Variants in UBQLNL

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

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

Position	Type	Phenotype	Significance	ClinVar
11-5515078-T-A		not specified	Uncertain significance (Aug 09, 2021)
11-5515095-C-T		not specified	Uncertain significance (Dec 20, 2023)
11-5515099-C-A		not specified	Uncertain significance (Dec 16, 2023)
11-5515273-T-G		not specified	Uncertain significance (Nov 29, 2021)
11-5515291-G-A		not specified	Uncertain significance (May 17, 2023)
11-5515297-G-C		not specified	Uncertain significance (May 22, 2023)
11-5515318-C-T			Benign (Sep 21, 2017)
11-5515433-C-G		not specified	Uncertain significance (May 24, 2023)
11-5515481-C-A		not specified	Uncertain significance (Nov 29, 2023)
11-5515511-G-T		not specified	Uncertain significance (Dec 14, 2023)
11-5515529-G-A			Benign (Sep 21, 2017)
11-5515560-G-T		not specified	Uncertain significance (Jul 09, 2021)
11-5515566-G-T		not specified	Uncertain significance (Dec 19, 2022)
11-5515621-T-C		not specified	Likely benign (Aug 09, 2021)
11-5515676-G-A		not specified	Likely benign (Jul 08, 2022)
11-5515678-T-G		not specified	Uncertain significance (Jan 30, 2024)
11-5515793-C-A		not specified	Uncertain significance (Jan 09, 2024)
11-5515855-G-A		not specified	Uncertain significance (May 31, 2023)
11-5515868-A-G		not specified	Likely benign (Feb 16, 2023)
11-5515870-A-G		not specified	Uncertain significance (Aug 02, 2021)
11-5515888-A-G		not specified	Uncertain significance (Jan 16, 2024)
11-5515895-G-A		not specified	Uncertain significance (Aug 06, 2021)
11-5516071-C-T		not specified	Likely benign (Apr 18, 2023)
11-5516102-G-A		not specified	Uncertain significance (Feb 23, 2023)
11-5516199-G-T		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UBQLNL	protein_coding	protein_coding	ENST00000380184	1	2313

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.11e-12	0.0179	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.548	270	246	1.10	0.0000120	3138
Missense in Polyphen		34	26.992	1.2596		419
Synonymous	-1.18	108	93.5	1.16	0.00000437	938
Loss of Function	-0.381	17	15.4	1.10	8.91e-7	150

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.829
• rvis_EVS: 1.87
• rvis_percentile_EVS: 97.2

Haploinsufficiency Scores

• pHI: 0.127
• hipred: N
• hipred_score: 0.123
• ghis: 0.414

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0702

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ubqlnl
• Phenotype: normal phenotype