ZNF692

zinc finger protein 692, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 1:248850006-248859144

Links

ENSG00000171163 ∙ NCBI:55657 ∙ OMIM:617758 ∙ HGNC:26049 ∙ Uniprot:Q9BU19 ∙ 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 ZNF692 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF692 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					1	1
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	1	1

Variants in ZNF692

This is a list of pathogenic ClinVar variants found in the ZNF692 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-248850257-T-C		not specified	Uncertain significance (Jun 04, 2024)
1-248850356-G-A		not specified	Uncertain significance (Sep 14, 2022)
1-248850370-C-T		not specified	Uncertain significance (Mar 16, 2022)
1-248850371-G-A		not specified	Likely benign (Oct 05, 2023)
1-248850383-C-A		not specified	Uncertain significance (Jun 16, 2024)
1-248850411-G-A			Benign (Jan 22, 2018)
1-248850460-C-T		not specified	Uncertain significance (Nov 21, 2022)
1-248850491-G-A		not specified	Uncertain significance (Dec 20, 2022)
1-248850506-A-G		not specified	Uncertain significance (Jul 12, 2023)
1-248850506-A-T		not specified	Uncertain significance (Apr 08, 2022)
1-248850743-A-T		not specified	Uncertain significance (Apr 18, 2023)
1-248855393-C-T		not specified	Uncertain significance (Jan 10, 2023)
1-248855429-C-T		not specified	Uncertain significance (Jul 19, 2022)
1-248855433-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-248855448-T-C		not specified	Uncertain significance (Oct 20, 2023)
1-248855744-G-C		not specified	Uncertain significance (Aug 10, 2023)
1-248855750-C-G		not specified	Uncertain significance (Sep 01, 2021)
1-248855801-G-A		not specified	Uncertain significance (Dec 21, 2023)
1-248855882-T-A		not specified	Uncertain significance (Aug 13, 2021)
1-248855911-G-A		not specified	Uncertain significance (Aug 02, 2021)
1-248855930-G-A		not specified	Uncertain significance (Dec 19, 2022)
1-248855938-G-C		not specified	Uncertain significance (Dec 09, 2023)
1-248856306-T-C		not specified	Uncertain significance (Jul 20, 2021)
1-248856376-C-G		not specified	Uncertain significance (Mar 29, 2023)
1-248856527-C-T		not specified	Uncertain significance (Dec 14, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF692	protein_coding	protein_coding	ENST00000451251	12	9139

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.26e-11	0.177	125675	0	73	125748	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.846	257	298	0.862	0.0000160	3375
Missense in Polyphen		90	110.59	0.8138		1230
Synonymous	-0.406	119	113	1.05	0.00000588	1060
Loss of Function	0.746	19	22.8	0.832	9.69e-7	280

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000386	0.000386
Ashkenazi Jewish	0.00106	0.000993
East Asian	0.000279	0.000272
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000311	0.000308
Middle Eastern	0.000279	0.000272
South Asian	0.000229	0.000229
Other	0.000490	0.000489

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: 0.923
• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.02

Haploinsufficiency Scores

• pHI: 0.0964
• hipred: N
• hipred_score: 0.144
• ghis: 0.596

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.926

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Zfp692

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleolus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;metal ion binding