ST18

ST18 C2H2C-type zinc finger transcription factor, the group of Zinc fingers C2H2C-type

Basic information

Region (hg38): 8:52110837-52460959

Previous symbols: [ "ZNF387" ]

Links

ENSG00000147488 ∙ NCBI:9705 ∙ OMIM:617155 ∙ HGNC:18695 ∙ Uniprot:O60284 ∙ 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 ST18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ST18 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			53	4	2	59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	53	4	3

Variants in ST18

This is a list of pathogenic ClinVar variants found in the ST18 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-52113208-A-C		not specified	Uncertain significance (Nov 03, 2023)
8-52116294-T-C		not specified	Uncertain significance (Sep 26, 2022)
8-52116315-G-A		not specified	Uncertain significance (Jul 14, 2023)
8-52116382-C-G		not specified	Uncertain significance (Feb 08, 2023)
8-52118363-G-T			Benign (Jun 26, 2018)
8-52131961-C-T		not specified	Uncertain significance (Aug 12, 2021)
8-52131992-C-T		not specified	Uncertain significance (Apr 25, 2023)
8-52132022-G-A		not specified	Uncertain significance (Mar 30, 2024)
8-52132038-G-C		not specified	Uncertain significance (Dec 09, 2023)
8-52132103-G-A		not specified	Uncertain significance (May 20, 2024)
8-52132105-C-T		not specified	Uncertain significance (Sep 15, 2021)
8-52133085-T-C		not specified	Uncertain significance (Aug 01, 2023)
8-52133120-C-T		not specified	Uncertain significance (Dec 21, 2022)
8-52133288-C-T		not specified	Uncertain significance (May 05, 2023)
8-52137434-C-T		not specified	Uncertain significance (Dec 15, 2022)
8-52142960-T-A		not specified	Uncertain significance (May 30, 2023)
8-52142990-G-T		not specified	Uncertain significance (Dec 20, 2021)
8-52143011-T-C		not specified	Uncertain significance (Mar 25, 2024)
8-52149755-C-T		not specified	Uncertain significance (Apr 18, 2023)
8-52149814-T-C		not specified	Uncertain significance (Oct 26, 2021)
8-52149815-A-G		not specified	Uncertain significance (Jan 27, 2022)
8-52149832-A-G		not specified	Uncertain significance (Oct 26, 2022)
8-52149835-A-G			Benign (Aug 15, 2018)
8-52149845-T-C		not specified	Uncertain significance (Aug 16, 2021)
8-52149911-C-T		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ST18	protein_coding	protein_coding	ENST00000276480	20	350121

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.995	0.00541	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.246	559	576	0.971	0.0000300	6950
Missense in Polyphen		196	229.37	0.85453		2737
Synonymous	-0.336	219	213	1.03	0.0000119	1977
Loss of Function	5.56	8	50.8	0.158	0.00000281	611

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000442	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000670	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Repressor that binds to DNA sequences containing a bipartite element consisting of a direct repeat of the sequence 5'-AAAGTTT-3' separated by 2-9 nucleotides. Represses basal transcription activity from target promoters (By similarity). Inhibits colony formation in cultured breast cancer cells. {ECO:0000250, ECO:0000269|PubMed:15489893}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.310
• rvis_EVS: -0.61
• rvis_percentile_EVS: 17.5

Haploinsufficiency Scores

• pHI: 0.471
• hipred: N
• hipred_score: 0.477
• ghis: 0.561

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: St18
• Phenotype: homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; skeleton phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;negative regulation of cell population proliferation;tumor necrosis factor-mediated signaling pathway;positive regulation of transcription by RNA polymerase II;interleukin-6-mediated signaling pathway;interleukin-1-mediated signaling pathway;positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
• Cellular component: nucleus;protein-DNA complex
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;zinc ion binding