ZNF708

zinc finger protein 708, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:21284033-21329425

Previous symbols: [ "ZNF15", "ZNF15L1" ]

Links

ENSG00000182141 ∙ NCBI:7562 ∙ ∙ HGNC:12945 ∙ Uniprot:P17019 ∙ 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 ZNF708 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF708 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			30			30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	0	0

Variants in ZNF708

This is a list of pathogenic ClinVar variants found in the ZNF708 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-21293311-C-A		not specified	Uncertain significance (Dec 07, 2024)
19-21293317-T-C		not specified	Uncertain significance (Feb 26, 2025)
19-21293401-T-C		not specified	Uncertain significance (Jan 17, 2025)
19-21293407-A-C		not specified	Uncertain significance (Aug 10, 2021)
19-21293420-A-G		not specified	Uncertain significance (Jan 03, 2024)
19-21293525-A-G		not specified	Uncertain significance (Aug 19, 2023)
19-21293536-T-A		not specified	Uncertain significance (May 20, 2024)
19-21293557-T-C		not specified	Uncertain significance (Nov 18, 2022)
19-21293587-G-A		not specified	Uncertain significance (Nov 18, 2022)
19-21293617-C-G		not specified	Uncertain significance (Sep 04, 2024)
19-21293710-G-A		not specified	Uncertain significance (Jan 02, 2024)
19-21293770-T-G		not specified	Uncertain significance (Jan 03, 2022)
19-21293869-C-T		not specified	Uncertain significance (Jan 02, 2025)
19-21293903-T-G		not specified	Uncertain significance (Nov 15, 2024)
19-21293932-A-C		not specified	Uncertain significance (Jan 22, 2025)
19-21293986-T-G		not specified	Uncertain significance (Jun 07, 2023)
19-21294037-C-T		not specified	Uncertain significance (Dec 10, 2024)
19-21294157-T-C		not specified	Uncertain significance (Jan 21, 2025)
19-21294179-G-A		not specified	Uncertain significance (Mar 28, 2024)
19-21294193-C-A		not specified	Uncertain significance (Dec 07, 2024)
19-21294352-A-G		not specified	Uncertain significance (Dec 19, 2022)
19-21294380-A-C		not specified	Uncertain significance (May 27, 2022)
19-21294448-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-21294458-A-T		not specified	Uncertain significance (Dec 31, 2024)
19-21294498-C-G		not specified	Uncertain significance (Feb 21, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF708	protein_coding	protein_coding	ENST00000356929	4	38266

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000555	0.275	125739	0	7	125746	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0266	284	283	1.00	0.0000127	3719
Missense in Polyphen		60	64.361	0.93224		1004
Synonymous	1.06	84	97.2	0.864	0.00000448	968
Loss of Function	-0.298	6	5.26	1.14	2.23e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000692	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
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: 0.675
• rvis_EVS: 2.09
• rvis_percentile_EVS: 97.85

Haploinsufficiency Scores

• pHI: 0.191
• hipred: N
• hipred_score: 0.218
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.362

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