ZNF112

zinc finger protein 112, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44326554-44367217

Previous symbols: [ "ZFP112", "ZNF228" ]

Links

ENSG00000062370 ∙ NCBI:7771 ∙ OMIM:603994 ∙ HGNC:12892 ∙ Uniprot:Q9UJU3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF112 gene.

• Inborn genetic diseases (32 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF112 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					1	1
missense			30	2	1	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	2	2

Variants in ZNF112

This is a list of pathogenic ClinVar variants found in the ZNF112 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44327678-A-G		not specified	Uncertain significance (May 17, 2023)
19-44327764-G-C		not specified	Uncertain significance (Apr 25, 2022)
19-44327785-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-44327803-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-44327804-G-A		not specified	Uncertain significance (Mar 24, 2023)
19-44327806-G-A		not specified	Uncertain significance (Oct 14, 2023)
19-44327827-G-C		not specified	Uncertain significance (Oct 14, 2023)
19-44327873-G-A		not specified	Uncertain significance (Nov 30, 2021)
19-44327931-C-T			Benign (Jul 16, 2018)
19-44327956-T-C		not specified	Uncertain significance (Oct 12, 2021)
19-44328073-C-T		not specified	Uncertain significance (Jul 26, 2022)
19-44328155-A-C		not specified	Uncertain significance (Oct 12, 2022)
19-44328509-C-T		not specified	Uncertain significance (Jun 28, 2022)
19-44328641-G-A		not specified	Uncertain significance (Oct 12, 2021)
19-44328701-T-G		not specified	Uncertain significance (Jan 23, 2023)
19-44328757-C-T		not specified	Likely benign (Aug 08, 2023)
19-44328758-G-A		not specified	Uncertain significance (Aug 09, 2021)
19-44328788-T-C			Uncertain significance (-)
19-44328890-T-A		not specified	Uncertain significance (May 31, 2023)
19-44328917-A-G		not specified	Uncertain significance (Oct 26, 2021)
19-44328961-T-C		not specified	Uncertain significance (Aug 17, 2022)
19-44328979-C-T		not specified	Likely benign (Nov 14, 2023)
19-44329009-T-A			Benign (Jul 16, 2018)
19-44329056-G-T		not specified	Uncertain significance (Oct 05, 2023)
19-44329082-C-T		not specified	Uncertain significance (Nov 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF112	protein_coding	protein_coding	ENST00000337401	4	40670

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00920	0.991	125718	0	27	125745	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.440	438	465	0.943	0.0000228	6126
Missense in Polyphen		106	153.55	0.69032		1985
Synonymous	0.0116	162	162	0.999	0.00000771	1552
Loss of Function	3.72	10	33.1	0.302	0.00000159	487

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000116	0.000114
Middle Eastern	0.000109	0.000109
South Asian	0.000197	0.000196
Other	0.000165	0.000163

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: 0.0872

Intolerance Scores

• rvis_EVS: 1.67
• rvis_percentile_EVS: 96.31

Haploinsufficiency Scores

• pHI: 0.158
• hipred: N
• hipred_score: 0.214
• ghis: 0.542

Essentials

• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp112

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA binding;metal ion binding