ZNF197

zinc finger protein 197, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 3:44584888-44648471

Previous symbols: [ "ZNF166" ]

Links

ENSG00000186448 ∙ NCBI:10168 ∙ OMIM:618359 ∙ HGNC:12988 ∙ Uniprot:O14709 ∙ 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 ZNF197 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF197 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			48	1		49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	1	0

Variants in ZNF197

This is a list of pathogenic ClinVar variants found in the ZNF197 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-44594292-G-T		not specified	Uncertain significance (Feb 26, 2024)
3-44594320-G-C		not specified	Uncertain significance (Aug 20, 2023)
3-44594402-G-A		not specified	Uncertain significance (Feb 28, 2024)
3-44594521-G-C		not specified	Uncertain significance (Nov 07, 2022)
3-44594560-C-T		not specified	Uncertain significance (Jul 19, 2023)
3-44594627-G-A		not specified	Uncertain significance (Dec 07, 2021)
3-44594662-A-G		not specified	Uncertain significance (Jun 16, 2024)
3-44594686-A-G		not specified	Uncertain significance (Apr 24, 2024)
3-44594687-T-C		not specified	Uncertain significance (Aug 26, 2022)
3-44594730-A-C		not specified	Uncertain significance (Oct 12, 2021)
3-44594731-C-T		not specified	Uncertain significance (Nov 30, 2021)
3-44594776-T-C		not specified	Uncertain significance (Jan 04, 2024)
3-44594833-G-A		not specified	Uncertain significance (Jan 18, 2023)
3-44594842-C-G		not specified	Uncertain significance (Jul 26, 2022)
3-44594855-A-C		not specified	Uncertain significance (Oct 29, 2021)
3-44594857-G-A		not specified	Uncertain significance (Dec 22, 2023)
3-44594874-C-A		not specified	Uncertain significance (Dec 22, 2023)
3-44594914-C-T			Uncertain significance (May 03, 2020)
3-44594915-G-A		not specified	Uncertain significance (Nov 08, 2021)
3-44594973-C-G		not specified	Uncertain significance (May 17, 2023)
3-44595063-T-G		not specified	Uncertain significance (Dec 30, 2023)
3-44595179-A-C		not specified	Uncertain significance (Jun 18, 2024)
3-44629158-A-T		not specified	Uncertain significance (Apr 01, 2024)
3-44629176-C-T		not specified	Uncertain significance (Sep 21, 2023)
3-44629216-A-G		not specified	Uncertain significance (Dec 02, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF197	protein_coding	protein_coding	ENST00000396058	5	63584

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.23e-13	0.791	125606	0	142	125748	0.000565

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.853	484	540	0.897	0.0000264	6886
Missense in Polyphen		167	201.29	0.82964		2601
Synonymous	0.649	179	190	0.940	0.00000920	1840
Loss of Function	1.80	25	36.8	0.679	0.00000187	519

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000857	0.000853
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000719	0.000707
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000756	0.000747
Middle Eastern	0.000719	0.000707
South Asian	0.000534	0.000523
Other	0.00100	0.000978

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.865
• rvis_EVS: -1.11
• rvis_percentile_EVS: 6.86

Haploinsufficiency Scores

• pHI: 0.272
• hipred: Y
• hipred_score: 0.514
• ghis: 0.629

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.621

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;DNA-binding transcription factor activity;metal ion binding