ZNF134

zinc finger protein 134, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57614233-57624724

Links

ENSG00000213762 ∙ NCBI:7693 ∙ OMIM:604076 ∙ HGNC:12918 ∙ Uniprot:P52741 ∙ 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 ZNF134 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF134 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				2		2
missense			31	1		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	3	0

Variants in ZNF134

This is a list of pathogenic ClinVar variants found in the ZNF134 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57619601-A-C			Likely benign (Mar 01, 2023)
19-57620219-G-C		not specified	Uncertain significance (May 31, 2022)
19-57620262-C-T		not specified	Likely benign (Nov 19, 2022)
19-57620291-A-G		not specified	Uncertain significance (Jun 12, 2023)
19-57620301-A-G		not specified	Uncertain significance (Sep 17, 2021)
19-57620301-A-T		not specified	Uncertain significance (May 31, 2022)
19-57620316-A-C		not specified	Uncertain significance (Jul 25, 2023)
19-57620327-G-T		not specified	Uncertain significance (Dec 03, 2021)
19-57620387-A-G		not specified	Uncertain significance (Jan 16, 2024)
19-57620397-T-G		not specified	Uncertain significance (Mar 06, 2023)
19-57620444-G-A		not specified	Uncertain significance (Oct 12, 2021)
19-57620445-A-G		not specified	Uncertain significance (Feb 26, 2024)
19-57620517-C-T		not specified	Uncertain significance (Dec 01, 2022)
19-57620547-C-G		not specified	Uncertain significance (Oct 05, 2022)
19-57620597-C-T		not specified	Uncertain significance (Jun 01, 2023)
19-57620602-G-T		not specified	Uncertain significance (Jan 04, 2024)
19-57620616-G-T		not specified	Uncertain significance (Jan 02, 2024)
19-57620639-A-G		not specified	Uncertain significance (Jun 07, 2024)
19-57620678-C-T		not specified	Uncertain significance (Oct 22, 2021)
19-57620718-G-A		not specified	Uncertain significance (May 13, 2024)
19-57620720-G-A		not specified	Uncertain significance (Mar 18, 2024)
19-57620763-G-A		not specified	Uncertain significance (Jun 06, 2023)
19-57620765-A-G		not specified	Uncertain significance (Dec 02, 2022)
19-57620772-C-T		not specified	Uncertain significance (Jun 12, 2023)
19-57620808-G-A		not specified	Uncertain significance (Jun 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF134	protein_coding	protein_coding	ENST00000396161	2	9124

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.26e-7	0.367	125426	0	120	125546	0.000478

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.452	245	226	1.08	0.0000112	2866
Missense in Polyphen		84	83.295	1.0085		1125
Synonymous	0.331	77	80.8	0.953	0.00000420	757
Loss of Function	0.644	12	14.7	0.819	8.39e-7	183

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000194	0.000187
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00274	0.00273
European (Non-Finnish)	0.000309	0.000299
Middle Eastern	0.00	0.00
South Asian	0.000686	0.000686
Other	0.000495	0.000491

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.643
• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.06

Haploinsufficiency Scores

• pHI: 0.407
• hipred: N
• hipred_score: 0.112
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.434

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