ZNF497

zinc finger protein 497, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:58354356-58362848

Links

ENSG00000174586 ∙ NCBI:162968 ∙ ∙ HGNC:23714 ∙ Uniprot:Q6ZNH5 ∙ 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 ZNF497 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF497 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			42			42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	0	0

Variants in ZNF497

This is a list of pathogenic ClinVar variants found in the ZNF497 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-58356160-G-T		not specified	Uncertain significance (Dec 06, 2021)
19-58356170-T-C		not specified	Uncertain significance (Feb 28, 2024)
19-58356201-A-G		not specified	Uncertain significance (Nov 07, 2022)
19-58356209-C-A		not specified	Uncertain significance (Dec 20, 2021)
19-58356254-C-T		not specified	Uncertain significance (Jan 27, 2022)
19-58356314-G-A		not specified	Uncertain significance (May 29, 2024)
19-58356318-T-C		not specified	Uncertain significance (Dec 19, 2022)
19-58356390-A-T		not specified	Uncertain significance (Dec 21, 2022)
19-58356410-G-T		not specified	Uncertain significance (Jan 31, 2022)
19-58356444-T-G		not specified	Uncertain significance (May 10, 2024)
19-58356447-C-T		not specified	Uncertain significance (Oct 13, 2023)
19-58356510-G-A		not specified	Uncertain significance (Sep 17, 2021)
19-58356522-T-A		not specified	Uncertain significance (Apr 04, 2024)
19-58356551-T-C		not specified	Uncertain significance (Oct 12, 2022)
19-58356585-C-T		not specified	Uncertain significance (Oct 05, 2023)
19-58356591-G-A		not specified	Uncertain significance (May 03, 2023)
19-58356639-C-A		not specified	Uncertain significance (Jun 28, 2022)
19-58356674-T-C		not specified	Uncertain significance (Apr 25, 2023)
19-58356707-G-A		not specified	Likely benign (Apr 15, 2024)
19-58356707-G-C		not specified	Uncertain significance (Jun 29, 2023)
19-58356819-G-T		not specified	Uncertain significance (Jul 06, 2021)
19-58356902-G-A		not specified	Uncertain significance (Jan 31, 2024)
19-58356914-G-A		not specified	Uncertain significance (Sep 15, 2021)
19-58356927-G-A		not specified	Uncertain significance (Jan 25, 2023)
19-58356952-G-C		not specified	Uncertain significance (Jan 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF497	protein_coding	protein_coding	ENST00000311044	1	8492

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.222	348	337	1.03	0.0000237	3142
Missense in Polyphen		121	104.01	1.1633		1075
Synonymous	-1.39	179	157	1.14	0.0000124	1006
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Haploinsufficiency Scores

• pHI: 0.207
• hipred: N
• hipred_score: 0.180
• ghis: 0.581

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0364

Gene Damage Prediction

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

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;transcription regulatory region DNA binding;metal ion binding