ZNF229

zinc finger protein 229, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44417519-44448578

Links

∙ NCBI:7772 ∙ ∙ HGNC:13022 ∙ Uniprot:Q9UJW7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 11.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
`NM_014518.4`	`NP_055333.3`	4	yes	-
`ENST00000614049.5`	`ENSP00000479884.1`	4	yes	-
`NM_001278510.3`	`NP_001265439.2`	4	-	-
`ENST00000613197.4`	`ENSP00000479807.1`	4	-	-

Phenotypes

GenCC

Source: genCC

schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

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ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF229 gene.

not_specified (149 variants)
not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF229 gene is commonly pathogenic or not. These statistics are base on transcript: NM_014518.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			138 clinvar	13 clinvar		151
nonsense						0
start loss				1		1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	138	16	0

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GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Intolerance Scores

loftool: 0.773
rvis_EVS: 1.25
rvis_percentile_EVS: 93.48

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0397

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
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