ZNF681

zinc finger protein 681, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:23739195-23758891

Links

ENSG00000196172 ∙ NCBI:148213 ∙ ∙ HGNC:26457 ∙ Uniprot:Q96N22 ∙ 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 ZNF681 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF681 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			38	1		39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	1	0

Variants in ZNF681

This is a list of pathogenic ClinVar variants found in the ZNF681 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-23743726-A-T		not specified	Uncertain significance (Dec 11, 2023)
19-23743787-T-C		not specified	Uncertain significance (Dec 15, 2023)
19-23743810-A-C		not specified	Uncertain significance (Aug 01, 2022)
19-23743844-T-C		not specified	Uncertain significance (May 09, 2024)
19-23743889-A-T		not specified	Uncertain significance (Feb 05, 2024)
19-23743926-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-23744076-T-C		not specified	Uncertain significance (Dec 08, 2023)
19-23744136-G-A		not specified	Uncertain significance (Aug 15, 2023)
19-23744154-T-C		not specified	Uncertain significance (Jul 14, 2021)
19-23744167-C-G		not specified	Uncertain significance (Jun 02, 2023)
19-23744385-T-C		not specified	Uncertain significance (Feb 11, 2022)
19-23744387-T-A		not specified	Uncertain significance (Aug 20, 2023)
19-23744405-G-A		not specified	Uncertain significance (Aug 30, 2021)
19-23744438-C-T		not specified	Uncertain significance (May 23, 2024)
19-23744468-G-C		not specified	Uncertain significance (Feb 03, 2022)
19-23744513-G-A		not specified	Uncertain significance (Dec 04, 2023)
19-23744534-T-G		not specified	Uncertain significance (Aug 09, 2021)
19-23744567-T-C		not specified	Uncertain significance (Oct 22, 2021)
19-23744621-T-C		not specified	Uncertain significance (Jun 26, 2023)
19-23744634-T-C		not specified	Uncertain significance (Sep 01, 2021)
19-23744702-T-C		not specified	Uncertain significance (Jun 16, 2024)
19-23744729-A-G		not specified	Uncertain significance (Jun 12, 2023)
19-23744858-C-T		not specified	Uncertain significance (Jan 26, 2022)
19-23744889-T-C		not specified	Uncertain significance (Jun 04, 2024)
19-23744903-T-C		not specified	Uncertain significance (Dec 08, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF681	protein_coding	protein_coding	ENST00000402377	4	19697

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00368	0.648	125721	0	20	125741	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.865	355	312	1.14	0.0000139	4257
Missense in Polyphen		73	70.184	1.0401		929
Synonymous	-0.434	114	108	1.05	0.00000497	1097
Loss of Function	0.544	4	5.36	0.746	2.28e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000875	0.0000875
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.754
• rvis_EVS: 1
• rvis_percentile_EVS: 90.69

Haploinsufficiency Scores

• pHI: 0.0896
• hipred: N
• hipred_score: 0.112
• ghis: 0.434

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.224

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
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