ZNF98

zinc finger protein 98, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:22391018-22532485

Links

ENSG00000197360 ∙ NCBI:148198 ∙ OMIM:603980 ∙ HGNC:13174 ∙ Uniprot:A6NK75 ∙ 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 ZNF98 gene.

• Inborn genetic diseases (35 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF98 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				4		4
missense			33	2		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	6	0

Variants in ZNF98

This is a list of pathogenic ClinVar variants found in the ZNF98 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-22391576-A-T		not specified	Uncertain significance (Sep 27, 2021)
19-22391581-T-C		not specified	Uncertain significance (Apr 06, 2022)
19-22391586-C-T		not specified	Uncertain significance (Mar 01, 2023)
19-22391614-T-G		not specified	Uncertain significance (Sep 12, 2023)
19-22391623-T-C		not specified	Uncertain significance (Jul 26, 2023)
19-22391626-T-C		not specified	Uncertain significance (Sep 29, 2023)
19-22391641-T-C		not specified	Uncertain significance (Jan 17, 2024)
19-22391647-A-G		not specified	Uncertain significance (May 27, 2022)
19-22391650-T-C		not specified	Uncertain significance (Apr 05, 2023)
19-22391664-C-T		not specified	Uncertain significance (Jan 09, 2024)
19-22391686-G-C		not specified	Uncertain significance (Mar 29, 2022)
19-22391705-C-T		not specified	Likely benign (Sep 01, 2021)
19-22391707-T-C		not specified	Uncertain significance (Sep 14, 2023)
19-22391719-T-C		not specified	Uncertain significance (Sep 06, 2022)
19-22391757-T-C		not specified	Uncertain significance (Mar 01, 2023)
19-22391784-T-C		not specified	Uncertain significance (Mar 06, 2023)
19-22391785-G-T		not specified	Uncertain significance (Apr 11, 2023)
19-22391837-T-C			Likely benign (Mar 01, 2023)
19-22391840-T-C			Likely benign (Mar 01, 2023)
19-22391866-T-C		not specified	Uncertain significance (Aug 16, 2022)
19-22391887-T-C		not specified	Uncertain significance (Nov 06, 2023)
19-22391897-T-G			Likely benign (Aug 01, 2023)
19-22391930-T-A		not specified	Uncertain significance (Aug 09, 2021)
19-22391944-C-T		not specified	Uncertain significance (Feb 27, 2023)
19-22391950-T-A		not specified	Likely benign (Jan 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF98	protein_coding	protein_coding	ENST00000357774	4	141467

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00345	0.634	125721	0	21	125742	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.572	265	240	1.10	0.0000109	3717
Missense in Polyphen		96	100.7	0.95328		1659
Synonymous	-0.612	91	83.9	1.08	0.00000378	970
Loss of Function	0.503	4	5.24	0.763	2.22e-7	65

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000280	0.000280
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000990	0.0000924
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.000503	0.000392
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.227

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

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