ZNF205

zinc finger protein 205, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:3112560-3120517

Previous symbols: [ "ZNF210" ]

Links

ENSG00000122386 ∙ NCBI:7755 ∙ OMIM:603436 ∙ HGNC:12996 ∙ Uniprot:O95201 ∙ 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 ZNF205 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF205 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			51	4		55
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	51	4	0

Variants in ZNF205

This is a list of pathogenic ClinVar variants found in the ZNF205 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-3113462-C-G		not specified	Uncertain significance (Jul 05, 2023)
16-3113479-C-T		not specified	Uncertain significance (Nov 08, 2021)
16-3115376-C-T		not specified	Uncertain significance (May 30, 2023)
16-3115406-G-A		not specified	Likely benign (Feb 22, 2023)
16-3115421-G-A		not specified	Uncertain significance (Jun 11, 2024)
16-3115457-G-A		not specified	Uncertain significance (Dec 03, 2021)
16-3115482-C-T		not specified	Uncertain significance (Mar 17, 2023)
16-3115488-A-T		not specified	Uncertain significance (Mar 01, 2024)
16-3115502-G-C		not specified	Uncertain significance (Mar 21, 2024)
16-3115553-T-C		not specified	Uncertain significance (Jan 19, 2024)
16-3115843-C-T		not specified	Uncertain significance (Jun 05, 2023)
16-3115844-G-C		not specified	Uncertain significance (Aug 27, 2024)
16-3115850-C-T		not specified	Uncertain significance (Jul 19, 2023)
16-3115882-C-G		not specified	Uncertain significance (Sep 06, 2022)
16-3115898-C-T		not specified	Uncertain significance (Apr 07, 2022)
16-3116441-C-A		not specified	Uncertain significance (Aug 12, 2021)
16-3116442-G-A		not specified	Uncertain significance (Jan 20, 2025)
16-3116492-C-G		not specified	Uncertain significance (Oct 25, 2024)
16-3118937-C-G		not specified	Uncertain significance (May 30, 2024)
16-3118938-A-T		not specified	Uncertain significance (Dec 19, 2022)
16-3118959-C-T		not specified	Uncertain significance (Jul 26, 2024)
16-3118962-C-T		not specified	Uncertain significance (Jun 28, 2023)
16-3118965-G-A		not specified	Uncertain significance (Sep 26, 2022)
16-3118971-G-A		not specified	Uncertain significance (May 30, 2024)
16-3118987-T-A		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF205	protein_coding	protein_coding	ENST00000382192	6	7958

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0323	0.967	125724	0	22	125746	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.494	353	380	0.929	0.0000283	3570
Missense in Polyphen		94	121.82	0.77164		1185
Synonymous	-0.938	188	172	1.09	0.0000141	1127
Loss of Function	3.13	7	23.3	0.300	0.00000109	242

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000210	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.000172	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000109	0.000105
Middle Eastern	0.000172	0.000163
South Asian	0.0000654	0.0000653
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)

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.578
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.67

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.322
• ghis: 0.638

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.776

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp13
• Phenotype: hematopoietic system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;positive regulation of hydrogen peroxide biosynthetic process;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
• Cellular component: nucleus;mitochondrion
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;protein binding;zinc ion binding