ZNF461

zinc finger protein 461, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:36636617-36666853

Links

ENSG00000197808 ∙ NCBI:92283 ∙ OMIM:608640 ∙ HGNC:21629 ∙ Uniprot:Q8TAF7 ∙ 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 ZNF461 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF461 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			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	0	0

Variants in ZNF461

This is a list of pathogenic ClinVar variants found in the ZNF461 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-36638718-G-A		not specified	Uncertain significance (Aug 17, 2021)
19-36638733-T-A		not specified	Uncertain significance (Jan 04, 2024)
19-36638763-C-G		not specified	Uncertain significance (Dec 16, 2022)
19-36638763-C-T		not specified	Uncertain significance (Mar 31, 2023)
19-36638795-C-T		not specified	Uncertain significance (Aug 15, 2023)
19-36638834-T-C		not specified	Uncertain significance (Dec 09, 2023)
19-36638882-T-C		not specified	Uncertain significance (Jan 04, 2024)
19-36638943-G-A		not specified	Uncertain significance (Dec 09, 2023)
19-36639182-C-T		not specified	Uncertain significance (Dec 27, 2023)
19-36639183-G-A		not specified	Uncertain significance (Jan 10, 2023)
19-36639197-T-G		not specified	Uncertain significance (Sep 17, 2021)
19-36639239-C-T		not specified	Uncertain significance (Apr 26, 2023)
19-36639326-C-G		not specified	Uncertain significance (Jun 24, 2022)
19-36639326-C-T		not specified	Uncertain significance (Mar 04, 2024)
19-36639426-C-T		not specified	Uncertain significance (Jun 24, 2022)
19-36639516-C-T		not specified	Uncertain significance (Dec 16, 2023)
19-36639608-T-C		not specified	Uncertain significance (Oct 05, 2022)
19-36639633-T-C		not specified	Uncertain significance (Jun 09, 2022)
19-36639806-A-G		not specified	Uncertain significance (Aug 02, 2023)
19-36639884-T-C		not specified	Uncertain significance (Jul 14, 2023)
19-36639902-T-C		not specified	Uncertain significance (Mar 24, 2023)
19-36639918-C-T		not specified	Uncertain significance (Sep 27, 2022)
19-36639932-C-G		not specified	Uncertain significance (Mar 26, 2024)
19-36640016-T-C		not specified	Uncertain significance (Jan 04, 2022)
19-36640034-G-A		not specified	Uncertain significance (Jan 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF461	protein_coding	protein_coding	ENST00000588268	5	29662

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.96e-8	0.810	125400	1	120	125521	0.000482

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.570	263	290	0.906	0.0000137	3773
Missense in Polyphen		84	90.15	0.93178		1192
Synonymous	1.51	79	98.0	0.806	0.00000476	940
Loss of Function	1.49	15	22.7	0.661	0.00000112	312

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00113	0.00111
Ashkenazi Jewish	0.000199	0.000199
East Asian	0.000110	0.000109
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000488	0.000484
Middle Eastern	0.000110	0.000109
South Asian	0.00124	0.00121
Other	0.000164	0.000164

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: 0.113

Intolerance Scores

• loftool: 0.834
• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.31

Haploinsufficiency Scores

• pHI: 0.193
• hipred: N
• hipred_score: 0.112
• ghis: 0.579

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.984

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;metal ion binding