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.

• not_specified (124 variants)

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. These statistics are base on transcript: NM_000006991.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			120	4		124
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	120	4	0

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