ZNF608

zinc finger protein 608, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 5:124636913-124748807

Links

ENSG00000168916 ∙ NCBI:57507 ∙ ∙ HGNC:29238 ∙ Uniprot:Q9ULD9 ∙ 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 ZNF608 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF608 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			60			60
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding			1			1
Total	0	0	61	1	0

Variants in ZNF608

This is a list of pathogenic ClinVar variants found in the ZNF608 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-124639164-A-G		not specified	Uncertain significance (Nov 16, 2022)
5-124639199-G-A		not specified	Uncertain significance (Jun 13, 2023)
5-124639221-G-A			Benign (Jul 05, 2018)
5-124641317-G-C		not specified	Uncertain significance (Oct 04, 2022)
5-124641329-C-T		not specified	Uncertain significance (Oct 17, 2023)
5-124641380-C-G		not specified	Uncertain significance (Apr 26, 2023)
5-124643528-G-A		not specified	Uncertain significance (Aug 26, 2024)
5-124643587-G-A		not specified	Uncertain significance (Aug 02, 2021)
5-124643594-C-T		not specified	Likely benign (Aug 12, 2024)
5-124644253-T-C		not specified	Uncertain significance (Feb 07, 2023)
5-124644265-C-T		not specified	Uncertain significance (Aug 30, 2021)
5-124644364-G-T		not specified	Uncertain significance (May 05, 2023)
5-124644390-C-T		not specified	Uncertain significance (Jul 12, 2022)
5-124644408-A-G		not specified	Uncertain significance (Oct 06, 2021)
5-124644412-G-T		not specified	Uncertain significance (Jun 11, 2024)
5-124644414-G-A		not specified	Uncertain significance (May 30, 2024)
5-124644451-T-C		not specified	Uncertain significance (Sep 26, 2023)
5-124644459-G-C		not specified	Uncertain significance (Aug 11, 2024)
5-124644468-T-A		not specified	Uncertain significance (Dec 06, 2022)
5-124644468-T-G		not specified	Uncertain significance (Oct 12, 2022)
5-124644634-A-G		not specified	Uncertain significance (Dec 07, 2021)
5-124646734-G-A		not specified	Uncertain significance (Dec 18, 2023)
5-124646825-A-G		not specified	Uncertain significance (Jul 16, 2021)
5-124646836-G-A		not specified	Uncertain significance (May 17, 2023)
5-124646893-T-A		not specified	Uncertain significance (Oct 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF608	protein_coding	protein_coding	ENST00000306315	9	111893

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000591	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.06	750	836	0.897	0.0000448	9937
Missense in Polyphen		325	413.38	0.78621		4834
Synonymous	-0.686	355	339	1.05	0.0000202	3018
Loss of Function	5.95	3	47.0	0.0639	0.00000226	660

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor, which represses ZNF609 transcription. {ECO:0000250|UniProtKB:Q56A10}.

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.00599
• rvis_EVS: -2.16
• rvis_percentile_EVS: 1.43

Haploinsufficiency Scores

• pHI: 0.177
• hipred: Y
• hipred_score: 0.644
• ghis: 0.563

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.152

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp608

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II
• Molecular function: nucleic acid binding;metal ion binding