ZNF131

zinc finger protein 131, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 5:43065176-43192021

Links

ENSG00000172262 ∙ NCBI:7690 ∙ OMIM:604073 ∙ HGNC:12915 ∙ Uniprot:P52739 ∙ 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 ZNF131 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF131 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			12	1	2	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	2

Variants in ZNF131

This is a list of pathogenic ClinVar variants found in the ZNF131 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-43122070-C-T		not specified	Uncertain significance (Jan 16, 2024)
5-43122081-C-G		not specified	Uncertain significance (Sep 22, 2023)
5-43122103-A-G		not specified	Uncertain significance (May 30, 2024)
5-43122110-G-T		not specified	Uncertain significance (Oct 12, 2021)
5-43161362-A-C		not specified	Uncertain significance (Dec 20, 2023)
5-43161397-G-C		not specified	Uncertain significance (Mar 16, 2024)
5-43161482-G-A		not specified	Uncertain significance (Dec 05, 2022)
5-43161535-A-C		not specified	Uncertain significance (Oct 06, 2021)
5-43174559-A-T		not specified	Uncertain significance (Nov 22, 2023)
5-43174669-A-C		not specified	Uncertain significance (Apr 19, 2024)
5-43174918-G-A		not specified	Likely benign (Sep 27, 2021)
5-43174989-G-C		not specified	Uncertain significance (Aug 22, 2022)
5-43175009-A-G		not specified	Uncertain significance (Jul 25, 2023)
5-43175026-A-G		not specified	Uncertain significance (Oct 12, 2021)
5-43175074-G-A			Benign (Sep 11, 2018)
5-43175089-A-G		not specified	Uncertain significance (Feb 27, 2023)
5-43175092-G-C			Benign (Sep 11, 2018)
5-43175100-T-G		not specified	Uncertain significance (Jun 24, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF131	protein_coding	protein_coding	ENST00000509634	7	126846

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000167	124787	0	7	124794	0.0000280

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.67	179	311	0.575	0.0000152	3921
Missense in Polyphen		40	95.337	0.41956		1348
Synonymous	0.0630	110	111	0.992	0.00000567	1056
Loss of Function	4.84	1	29.2	0.0342	0.00000165	327

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000938	0.0000936
Ashkenazi Jewish	0.0000994	0.0000993
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role during development and organogenesis as well as in the function of the adult central nervous system (By similarity). May be involved in transcriptional regulation as a repressor of ESR1/ER-alpha signaling. {ECO:0000250, ECO:0000269|PubMed:18847501, ECO:0000269|PubMed:22467880}.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.308
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.2

Haploinsufficiency Scores

• pHI: 0.281
• hipred: Y
• hipred_score: 0.728
• ghis: 0.588

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.993

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp131

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;intermediate filament cytoskeleton
• 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;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;metal ion binding