ZKSCAN8

zinc finger with KRAB and SCAN domains 8, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 6:28141882-28159460

Previous symbols: [ "ZNF192" ]

Links

ENSG00000198315 ∙ ∙ OMIM:602240 ∙ HGNC:12983 ∙ Uniprot:Q15776 ∙ 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 ZKSCAN8 gene.

• Inborn genetic diseases (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZKSCAN8 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			20	1		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in ZKSCAN8

This is a list of pathogenic ClinVar variants found in the ZKSCAN8 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-28148447-C-T		not specified	Uncertain significance (Apr 18, 2023)
6-28148532-G-A		not specified	Likely benign (May 10, 2022)
6-28148559-G-A		not specified	Uncertain significance (Sep 17, 2021)
6-28148579-C-G		not specified	Uncertain significance (Apr 27, 2023)
6-28148622-T-C		not specified	Uncertain significance (Jun 26, 2023)
6-28148762-G-A		not specified	Uncertain significance (May 23, 2023)
6-28148765-G-C		not specified	Uncertain significance (Oct 12, 2022)
6-28148811-T-C		not specified	Uncertain significance (Oct 02, 2023)
6-28149495-G-A		not specified	Uncertain significance (Jun 27, 2022)
6-28149495-G-C		not specified	Uncertain significance (Mar 11, 2024)
6-28152304-A-C		not specified	Uncertain significance (Sep 20, 2023)
6-28153151-G-A		not specified	Uncertain significance (Dec 07, 2023)
6-28153218-G-A		not specified	Uncertain significance (May 30, 2023)
6-28153353-C-A		not specified	Uncertain significance (Mar 20, 2023)
6-28153400-A-C		not specified	Uncertain significance (Nov 30, 2022)
6-28153418-T-C		not specified	Uncertain significance (Oct 26, 2021)
6-28153471-G-T		not specified	Uncertain significance (Mar 29, 2023)
6-28153476-T-G		not specified	Uncertain significance (Nov 27, 2023)
6-28153491-A-G		not specified	Uncertain significance (Jan 16, 2024)
6-28153506-A-G		not specified	Uncertain significance (Nov 06, 2023)
6-28153643-A-G		not specified	Uncertain significance (May 22, 2023)
6-28153700-A-G		not specified	Uncertain significance (Apr 04, 2023)
6-28153709-C-G		not specified	Uncertain significance (Jan 20, 2023)
6-28153727-A-G		not specified	Uncertain significance (Dec 16, 2023)
6-28153841-A-G		not specified	Uncertain significance (Dec 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZKSCAN8	protein_coding	protein_coding	ENST00000330236	5	17563

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.76e-7	0.966	125710	0	38	125748	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.09	254	308	0.825	0.0000159	3796
Missense in Polyphen		73	110.95	0.65794		1453
Synonymous	0.727	102	112	0.913	0.00000531	1099
Loss of Function	2.03	15	26.2	0.573	0.00000157	303

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000268	0.000268
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.0000544	0.0000544
South Asian	0.000164	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.38

Haploinsufficiency Scores

• pHI: 0.152
• hipred: N
• hipred_score: 0.274
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zkscan8

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