ZNF614

zinc finger protein 614, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:52012765-52030240

Links

ENSG00000142556 ∙ NCBI:80110 ∙ ∙ HGNC:24722 ∙ Uniprot:Q8N883 ∙ 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 ZNF614 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF614 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		23
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	0

Variants in ZNF614

This is a list of pathogenic ClinVar variants found in the ZNF614 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-52015850-G-A		not specified	Uncertain significance (Oct 22, 2021)
19-52015896-T-C		not specified	Uncertain significance (Oct 03, 2022)
19-52016139-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-52016145-A-G		not specified	Uncertain significance (Nov 15, 2021)
19-52016280-G-A		not specified	Uncertain significance (Apr 05, 2023)
19-52016316-T-C		not specified	Uncertain significance (Apr 25, 2022)
19-52016427-G-A		not specified	Uncertain significance (May 20, 2024)
19-52016513-T-C		not specified	Uncertain significance (May 09, 2024)
19-52016546-C-T		not specified	Uncertain significance (Jul 14, 2023)
19-52016564-C-T		not specified	Uncertain significance (Jun 21, 2023)
19-52016566-T-C		not specified	Uncertain significance (Jul 29, 2022)
19-52016624-G-A		not specified	Uncertain significance (Dec 27, 2023)
19-52016640-A-G		not specified	Uncertain significance (Jun 18, 2021)
19-52016753-G-A		not specified	Uncertain significance (Jan 30, 2024)
19-52016760-T-A		not specified	Uncertain significance (Feb 06, 2023)
19-52016804-C-A		not specified	Uncertain significance (Oct 20, 2023)
19-52016816-G-T		not specified	Uncertain significance (Jul 26, 2022)
19-52016843-G-A		not specified	Uncertain significance (Dec 14, 2023)
19-52016846-T-A		not specified	Uncertain significance (Mar 25, 2024)
19-52017020-A-G		not specified	Uncertain significance (Jan 26, 2023)
19-52017060-A-G		not specified	Likely benign (Mar 19, 2024)
19-52017080-G-A		not specified	Likely benign (Jan 23, 2024)
19-52017148-A-T		not specified	Uncertain significance (Mar 31, 2024)
19-52017172-A-C		not specified	Uncertain significance (Aug 04, 2022)
19-52017284-T-C		not specified	Likely benign (Sep 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF614	protein_coding	protein_coding	ENST00000270649	4	17476

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.51e-7	0.847	125668	0	80	125748	0.000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.273	296	309	0.956	0.0000158	3892
Missense in Polyphen		96	103.37	0.92872		1269
Synonymous	0.0920	107	108	0.989	0.00000560	1050
Loss of Function	1.54	14	21.7	0.644	0.00000140	283

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000811	0.000810
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.000417	0.000416
European (Non-Finnish)	0.000335	0.000325
Middle Eastern	0.000326	0.000326
South Asian	0.000261	0.000261
Other	0.000164	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: 0.738
• rvis_EVS: 0.76
• rvis_percentile_EVS: 86.75

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.174
• ghis: 0.490

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.845

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;biological_process
• Cellular component: cellular_component;nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;DNA binding;protein binding;metal ion binding