ZNF121

zinc finger protein 121, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:9560328-9584504

Previous symbols: [ "D19S204" ]

Links

ENSG00000197961 ∙ NCBI:7675 ∙ OMIM:194628 ∙ HGNC:12904 ∙ Uniprot:P58317 ∙ 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 ZNF121 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF121 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in ZNF121

This is a list of pathogenic ClinVar variants found in the ZNF121 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-9566008-T-C		not specified	Uncertain significance (Dec 13, 2022)
19-9566059-A-C		not specified	Uncertain significance (May 09, 2023)
19-9566064-C-T		not specified	Uncertain significance (Apr 08, 2022)
19-9566478-C-T		not specified	Uncertain significance (Oct 13, 2023)
19-9566511-T-C		not specified	Uncertain significance (Apr 25, 2023)
19-9566658-A-C		not specified	Uncertain significance (Feb 15, 2023)
19-9566712-G-C		not specified	Uncertain significance (Jul 09, 2021)
19-9566716-C-A		not specified	Uncertain significance (Aug 02, 2023)
19-9566742-G-C		not specified	Uncertain significance (Mar 02, 2023)
19-9566752-A-G		not specified	Uncertain significance (Nov 17, 2022)
19-9566778-C-A		not specified	Uncertain significance (Dec 14, 2023)
19-9566802-T-G		not specified	Uncertain significance (Mar 18, 2024)
19-9566847-T-G		not specified	Uncertain significance (Aug 10, 2021)
19-9566908-T-C		not specified	Uncertain significance (Apr 27, 2023)
19-9566943-G-A		not specified	Uncertain significance (May 02, 2024)
19-9566974-T-C		not specified	Uncertain significance (Dec 12, 2023)
19-9566980-C-T		not specified	Uncertain significance (Nov 21, 2022)
19-9567033-T-A		not specified	Uncertain significance (May 27, 2022)
19-9567064-C-T		not specified	Uncertain significance (Apr 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF121	protein_coding	protein_coding	ENST00000320451	2	24181

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.392	0.483	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.53	145	207	0.701	0.00000966	2589
Missense in Polyphen		24	66.665	0.36001		859
Synonymous	-1.04	85	73.7	1.15	0.00000373	695
Loss of Function	0.923	0	0.992	0.00	4.22e-8	12

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.200

Intolerance Scores

• loftool: 0.344
• rvis_EVS: -0.23
• rvis_percentile_EVS: 37.11

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.252
• ghis: 0.574

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Low	Medium
Primary Immunodeficiency	Medium	Low	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