ZNF34

zinc finger protein 34, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 8:144772224-144787348

Links

ENSG00000196378 ∙ NCBI:80778 ∙ OMIM:194526 ∙ HGNC:13098 ∙ Uniprot:Q8IZ26 ∙ 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 ZNF34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF34 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			24	1		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	24	1	0

Variants in ZNF34

This is a list of pathogenic ClinVar variants found in the ZNF34 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144773270-A-G		not specified	Uncertain significance (Jun 18, 2024)
8-144773370-C-T		not specified	Uncertain significance (Jul 09, 2021)
8-144773386-G-C		not specified	Uncertain significance (Apr 25, 2022)
8-144773423-T-C		not specified	Uncertain significance (Oct 21, 2024)
8-144773512-C-G		not specified	Uncertain significance (May 20, 2024)
8-144773554-G-C		not specified	Uncertain significance (Jul 12, 2023)
8-144773577-G-C		not specified	Uncertain significance (Feb 27, 2024)
8-144773597-T-C		not specified	Uncertain significance (Jul 25, 2023)
8-144773748-T-C		not specified	Uncertain significance (Dec 22, 2023)
8-144773763-A-G		not specified	Uncertain significance (Mar 21, 2023)
8-144773802-G-A		not specified	Uncertain significance (Oct 11, 2024)
8-144773861-T-C		not specified	Uncertain significance (Aug 12, 2021)
8-144774008-T-G		not specified	Uncertain significance (Jun 11, 2024)
8-144774012-C-T		not specified	Uncertain significance (May 17, 2023)
8-144774026-C-T		not specified	Uncertain significance (Apr 08, 2024)
8-144774056-C-T		not specified	Likely benign (Apr 07, 2023)
8-144774072-C-T		not specified	Uncertain significance (Feb 09, 2023)
8-144774162-T-C		not specified	Uncertain significance (Jan 09, 2023)
8-144774189-T-A		not specified	Uncertain significance (Apr 04, 2024)
8-144774194-T-C		not specified	Uncertain significance (Sep 10, 2024)
8-144774222-T-C		not specified	Uncertain significance (Apr 18, 2023)
8-144774268-G-C		not specified	Uncertain significance (Mar 08, 2024)
8-144774295-C-G		not specified	Uncertain significance (Nov 07, 2024)
8-144774299-T-C		not specified	Uncertain significance (Feb 17, 2024)
8-144774327-A-G		not specified	Uncertain significance (Aug 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF34	protein_coding	protein_coding	ENST00000343459	5	14232

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000688	0.996	125723	0	16	125739	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	257	318	0.809	0.0000177	3700
Missense in Polyphen		86	123.79	0.69475		1527
Synonymous	0.805	110	121	0.907	0.00000691	1020
Loss of Function	2.54	9	21.8	0.413	0.00000117	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000933	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000797	0.0000791
Middle Eastern	0.000163	0.000163
South Asian	0.0000328	0.0000327
Other	0.00	0.00

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: 0.460
• rvis_EVS: -0.33
• rvis_percentile_EVS: 30.7

Haploinsufficiency Scores

• pHI: 0.155
• hipred: N
• hipred_score: 0.317
• ghis: 0.556

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.788

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;nucleoplasm;cytosol
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding