UNKL

unk like zinc finger, the group of Zinc fingers CCCH-type|Ring finger proteins

Basic information

Region (hg38): 16:1363204-1414751

Previous symbols: [ "C16orf28" ]

Links

ENSG00000059145 ∙ NCBI:64718 ∙ OMIM:617463 ∙ HGNC:14184 ∙ Uniprot:Q9H9P5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UNKL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNKL 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				2		2
missense			61	7		68
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			10	1		11
Total	0	0	71	10	0

Variants in UNKL

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

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

Position	Type	Phenotype	Significance	ClinVar
16-1363256-A-T		GNPTG-mucolipidosis	Uncertain significance (Jan 12, 2018)
16-1363296-T-C		GNPTG-mucolipidosis	Uncertain significance (Jan 13, 2018)
16-1363315-T-C		GNPTG-mucolipidosis	Benign/Likely benign (Apr 20, 2019)
16-1363324-C-T		GNPTG-mucolipidosis	Uncertain significance (Jan 13, 2018)
16-1363347-T-TA		GNPTG-mucolipidosis	Uncertain significance (Jun 14, 2016)
16-1366283-G-A		not specified	Uncertain significance (Oct 06, 2021)
16-1366292-G-A		not specified	Uncertain significance (Jun 17, 2024)
16-1366298-G-A		not specified	Uncertain significance (Mar 21, 2024)
16-1366352-T-A		not specified	Uncertain significance (Jan 17, 2024)
16-1366365-C-T		not specified	Uncertain significance (May 13, 2024)
16-1366379-C-T		not specified	Uncertain significance (Jun 07, 2024)
16-1367262-T-C		not specified	Uncertain significance (Jul 06, 2021)
16-1367292-C-G		not specified	Uncertain significance (Feb 17, 2022)
16-1367300-C-T		not specified	Uncertain significance (May 28, 2024)
16-1367301-G-A		not specified	Uncertain significance (Jul 12, 2023)
16-1367306-C-A		not specified	Uncertain significance (Jan 29, 2024)
16-1367327-T-A		not specified	Uncertain significance (Nov 10, 2022)
16-1367330-C-A		not specified	Uncertain significance (Jun 16, 2024)
16-1367710-G-C		not specified	Uncertain significance (Mar 02, 2023)
16-1367745-C-T		not specified	Uncertain significance (May 03, 2023)
16-1367751-G-A		not specified	Uncertain significance (Feb 27, 2024)
16-1367762-G-A		not specified	Uncertain significance (Apr 09, 2024)
16-1367772-G-A		not specified	Uncertain significance (Aug 11, 2022)
16-1367789-A-G		not specified	Uncertain significance (Dec 06, 2021)
16-1367822-A-G		not specified	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNKL	protein_coding	protein_coding	ENST00000389221	15	51547

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.817	0.183	125356	0	5	125361	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.816	355	401	0.885	0.0000273	4262
Missense in Polyphen		90	133.36	0.67485		1399
Synonymous	-3.76	251	186	1.35	0.0000145	1361
Loss of Function	3.99	5	27.6	0.181	0.00000118	345

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000951	0.00000884
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven. {ECO:0000269|PubMed:20148946}.
• Pathway: Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Haploinsufficiency Scores

• pHI: 0.243
• hipred: N
• hipred_score: 0.233
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.961

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Unkl

Gene ontology

• Biological process: protein polyubiquitination;regulation of transcription by RNA polymerase II
• Cellular component: nucleus;cytosol
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;ubiquitin-protein transferase activity;protein binding;metal ion binding