ZNF610

zinc finger protein 610, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:52336242-52367778

Links

ENSG00000167554 ∙ NCBI:162963 ∙ ∙ HGNC:26687 ∙ Uniprot:Q8N9Z0 ∙ 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 ZNF610 gene.

• Inborn genetic diseases (21 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF610 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			21	2	1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	1

Variants in ZNF610

This is a list of pathogenic ClinVar variants found in the ZNF610 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-52349190-A-C		not specified	Uncertain significance (Jan 26, 2022)
19-52349216-C-T		not specified	Uncertain significance (Feb 22, 2023)
19-52353685-C-T		not specified	Uncertain significance (Sep 22, 2022)
19-52353727-G-C		not specified	Uncertain significance (Jan 02, 2024)
19-52365802-G-A		not specified	Uncertain significance (Feb 27, 2024)
19-52365829-G-C		not specified	Uncertain significance (May 27, 2022)
19-52365854-C-T		not specified	Uncertain significance (May 25, 2022)
19-52365863-C-T		not specified	Uncertain significance (Mar 14, 2023)
19-52365895-A-G		not specified	Uncertain significance (Aug 11, 2022)
19-52365947-C-T		not specified	Uncertain significance (Jan 03, 2024)
19-52365964-T-C		not specified	Uncertain significance (Aug 12, 2021)
19-52365988-T-C			Likely benign (Sep 01, 2022)
19-52366060-G-A		not specified	Uncertain significance (Jun 28, 2023)
19-52366084-G-A		not specified	Uncertain significance (Mar 01, 2023)
19-52366106-G-A		not specified	Uncertain significance (Aug 16, 2021)
19-52366114-C-T		not specified	Uncertain significance (Aug 17, 2022)
19-52366118-T-C		not specified	Uncertain significance (Mar 22, 2022)
19-52366127-A-G		not specified	Uncertain significance (Aug 02, 2021)
19-52366135-A-G		not specified	Uncertain significance (Dec 12, 2023)
19-52366160-A-G		not specified	Uncertain significance (Apr 06, 2022)
19-52366189-C-T		not specified	Uncertain significance (Aug 16, 2021)
19-52366208-G-A		not specified	Uncertain significance (Dec 07, 2021)
19-52366242-C-G		not specified	Uncertain significance (Oct 17, 2023)
19-52366252-G-A		not specified	Uncertain significance (Mar 08, 2024)
19-52366391-A-G		not specified	Uncertain significance (Jan 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF610	protein_coding	protein_coding	ENST00000403906	4	31534

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000105	0.377	125728	0	16	125744	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.111	250	255	0.980	0.0000135	3064
Missense in Polyphen		59	59.588	0.99014		746
Synonymous	-0.355	91	86.8	1.05	0.00000438	828
Loss of Function	0.0497	6	6.13	0.978	2.60e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000880	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000993	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.944
• rvis_EVS: 1.33
• rvis_percentile_EVS: 94.21

Haploinsufficiency Scores

• pHI: 0.199
• hipred: N
• hipred_score: 0.112
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.599

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