ZNF208

zinc finger protein 208, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:21932957-22010949

Links

ENSG00000160321 ∙ NCBI:7757 ∙ OMIM:603977 ∙ HGNC:12999 ∙ Uniprot:O43345 ∙ 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 ZNF208 gene.

• Inborn genetic diseases (68 variants)
• not provided (6 variants)
• CIC-DUX Sarcoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF208 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				6		6
missense			68			68
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	68	6	0

Variants in ZNF208

This is a list of pathogenic ClinVar variants found in the ZNF208 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-21971191-C-G		CIC-DUX Sarcoma	not provided (-)
19-21971277-A-G		not specified	Uncertain significance (Aug 17, 2022)
19-21971319-T-C		not specified	Uncertain significance (Feb 06, 2023)
19-21971333-A-T		not specified	Uncertain significance (Sep 29, 2022)
19-21971372-C-A		not specified	Uncertain significance (Dec 11, 2023)
19-21971384-T-A		not specified	Uncertain significance (Aug 19, 2023)
19-21971387-T-C		not specified	Uncertain significance (Dec 21, 2023)
19-21971420-G-A		not specified	Uncertain significance (Dec 01, 2022)
19-21971433-C-T		not specified	Uncertain significance (Feb 27, 2024)
19-21971479-T-A			Likely benign (Apr 01, 2023)
19-21971487-T-C		not specified	Uncertain significance (Sep 06, 2022)
19-21971495-A-C		not specified	Uncertain significance (Jul 20, 2022)
19-21971510-C-T		not specified	Uncertain significance (Feb 23, 2023)
19-21971558-T-C		not specified	Uncertain significance (Apr 27, 2023)
19-21971637-C-G		not specified	Uncertain significance (Dec 21, 2022)
19-21971712-T-C		not specified	Uncertain significance (May 09, 2023)
19-21971746-C-G		not specified	Uncertain significance (Aug 14, 2023)
19-21971801-G-A		not specified	Uncertain significance (May 05, 2023)
19-21971841-C-T		not specified	Uncertain significance (Aug 12, 2021)
19-21971895-G-T		not specified	Uncertain significance (May 05, 2022)
19-21972023-T-C		not specified	Uncertain significance (Oct 25, 2022)
19-21972050-T-C		not specified	Uncertain significance (Apr 13, 2023)
19-21972063-G-T		not specified	Uncertain significance (Feb 16, 2023)
19-21972098-C-T		not specified	Uncertain significance (Feb 28, 2024)
19-21972110-T-C		not specified	Uncertain significance (Oct 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF208	protein_coding	protein_coding	ENST00000397126	4	77992

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000563	0.277	125694	0	4	125698	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-4.17	919	626	1.47	0.0000274	8413
Missense in Polyphen		171	121.63	1.4059		1706
Synonymous	-3.45	275	211	1.30	0.00000962	2109
Loss of Function	-0.291	6	5.28	1.14	2.24e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000266	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

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: 0.991
• rvis_EVS: 3.72
• rvis_percentile_EVS: 99.58

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.112
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0897

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp619

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;zinc ion binding