ZNF697

zinc finger protein 697, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 1:119619377-119648266

Links

ENSG00000143067 ∙ NCBI:90874 ∙ ∙ HGNC:32034 ∙ Uniprot:Q5TEC3 ∙ 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 ZNF697 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF697 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			29	4		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	4	0

Variants in ZNF697

This is a list of pathogenic ClinVar variants found in the ZNF697 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-119622796-G-C		not specified	Uncertain significance (Nov 30, 2022)
1-119622901-G-T		not specified	Uncertain significance (Jun 09, 2022)
1-119623033-T-A		not specified	Uncertain significance (Jun 27, 2022)
1-119623162-G-C		not specified	Uncertain significance (Oct 25, 2023)
1-119623177-C-G		not specified	Uncertain significance (Oct 12, 2022)
1-119623199-C-T		not specified	Uncertain significance (Apr 13, 2022)
1-119623304-C-G		not specified	Uncertain significance (Apr 07, 2023)
1-119623361-G-C		not specified	Uncertain significance (Jul 26, 2022)
1-119623414-A-C		not specified	Uncertain significance (Oct 27, 2021)
1-119623420-C-A		not specified	Uncertain significance (Jul 25, 2023)
1-119623429-A-C		not specified	Uncertain significance (Dec 06, 2021)
1-119623492-G-C		not specified	Uncertain significance (Mar 30, 2024)
1-119623580-G-A		not specified	Uncertain significance (May 06, 2024)
1-119623588-A-C		not specified	Uncertain significance (Oct 12, 2021)
1-119623592-G-A		not specified	Uncertain significance (Jun 10, 2024)
1-119623592-G-C		not specified	Likely benign (Apr 07, 2023)
1-119623595-G-C		not specified	Uncertain significance (Dec 06, 2021)
1-119623597-C-G		not specified	Uncertain significance (Sep 14, 2022)
1-119623600-G-C		not specified	Uncertain significance (Sep 17, 2021)
1-119623609-C-T		not specified	Uncertain significance (May 15, 2024)
1-119623629-C-T		not specified	Uncertain significance (Jul 13, 2022)
1-119623643-T-C		not specified	Likely benign (Apr 07, 2023)
1-119623648-T-C		not specified	Likely benign (Apr 07, 2023)
1-119623661-C-G		not specified	Uncertain significance (Oct 05, 2023)
1-119623688-C-A		not specified	Uncertain significance (Jan 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF697	protein_coding	protein_coding	ENST00000421812	2	28352

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00393	0.962	125054	0	147	125201	0.000587

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.43	252	324	0.777	0.0000247	3499
Missense in Polyphen		87	153.3	0.56752		1601
Synonymous	0.275	139	143	0.971	0.0000121	1028
Loss of Function	1.85	6	13.3	0.451	7.01e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000350	0.000342
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.00	0.00
Finnish	0.00548	0.00549
European (Non-Finnish)	0.000183	0.000168
Middle Eastern	0.00	0.00
South Asian	0.0000340	0.0000327
Other	0.000165	0.000164

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)

Haploinsufficiency Scores

• pHI: 0.285
• hipred: N
• hipred_score: 0.312
• ghis: 0.614

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.152

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp697

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;metal ion binding