UNK

unk zinc finger, the group of Zinc fingers CCCH-type

Basic information

Region (hg38): 17:75784806-75825799

Previous symbols: [ "ZC3HDC5", "ZC3H5" ]

Links

ENSG00000132478 ∙ NCBI:85451 ∙ OMIM:616375 ∙ HGNC:29369 ∙ Uniprot:Q9C0B0 ∙ 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 UNK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNK 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					1	1
missense			41	2		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	41	2	3

Variants in UNK

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

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

Position	Type	Phenotype	Significance	ClinVar
17-75784929-C-T		not specified	Uncertain significance (Feb 26, 2025)
17-75784938-A-G		not specified	Uncertain significance (Dec 03, 2024)
17-75784983-A-C		not specified	Uncertain significance (Aug 11, 2021)
17-75784994-GC-G			Benign (Oct 02, 2024)
17-75809787-G-T		not specified	Uncertain significance (Jun 05, 2023)
17-75809864-G-A		not specified	Uncertain significance (Nov 06, 2023)
17-75812135-C-A		not specified	Uncertain significance (Nov 13, 2024)
17-75813129-C-T		not specified	Uncertain significance (Jul 17, 2024)
17-75813189-G-A		not specified	Uncertain significance (Oct 12, 2021)
17-75813811-G-C		not specified	Uncertain significance (Dec 28, 2022)
17-75813825-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-75815253-C-T			Uncertain significance (Jan 11, 2021)
17-75816910-G-A		not specified	Uncertain significance (Nov 21, 2024)
17-75817317-T-C			Benign (Jun 06, 2017)
17-75817329-C-T		not specified	Uncertain significance (Dec 25, 2024)
17-75817351-G-A		not specified	Uncertain significance (Oct 03, 2024)
17-75817351-G-C		not specified	Uncertain significance (Nov 07, 2022)
17-75817398-C-T		not specified	Uncertain significance (Apr 09, 2024)
17-75817419-G-A		not specified	Uncertain significance (Mar 25, 2024)
17-75817434-T-C		not specified	Uncertain significance (Jun 23, 2023)
17-75817465-C-T		not specified	Uncertain significance (Oct 12, 2024)
17-75817476-G-A		not specified	Uncertain significance (Apr 04, 2024)
17-75818115-C-G		not specified	Uncertain significance (Nov 28, 2024)
17-75818146-A-G		not specified	Uncertain significance (Dec 18, 2023)
17-75818726-C-A		not specified	Uncertain significance (Feb 03, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNK	protein_coding	protein_coding	ENST00000589666	16	41206

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000585	124790	0	7	124797	0.0000280

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.72	261	494	0.529	0.0000310	5214
Missense in Polyphen		87	230.62	0.37725		2301
Synonymous	1.60	188	218	0.862	0.0000155	1606
Loss of Function	5.49	3	40.8	0.0735	0.00000212	459

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.0000998	0.0000994
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000359	0.0000354
Middle Eastern	0.00	0.00
South Asian	0.0000341	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sequence-specific RNA-binding protein which plays an important role in the establishment and maintenance of the early morphology of cortical neurons during embryonic development. Acts as a translation repressor and controls a translationally regulated cell morphology program to ensure proper structuring of the nervous system. Translational control depends on recognition of its binding element within target mRNAs which consists of a mandatory UAG trimer upstream of a U/A-rich motif. Associated with polysomes (PubMed:25737280). {ECO:0000269|PubMed:25737280}.

Recessive Scores

• pRec: 0.206

Haploinsufficiency Scores

• pHI: 0.739
• hipred: Y
• hipred_score: 0.673
• ghis: 0.653

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.951

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Unk
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; respiratory system phenotype; renal/urinary system phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: neuron migration;cell morphogenesis involved in neuron differentiation;negative regulation of cytoplasmic translation
• Cellular component: cytoplasm;polysome
• Molecular function: RNA binding;metal ion binding;polysome binding;mRNA CDS binding