ZNF622

zinc finger protein 622

Basic information

Region (hg38): 5:16451519-16465800

Links

ENSG00000173545 ∙ NCBI:90441 ∙ OMIM:608694 ∙ HGNC:30958 ∙ Uniprot:Q969S3 ∙ 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 ZNF622 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF622 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			25	3		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	3	0

Variants in ZNF622

This is a list of pathogenic ClinVar variants found in the ZNF622 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-16451725-T-A		not specified	Uncertain significance (May 23, 2023)
5-16451763-C-T		not specified	Uncertain significance (Aug 08, 2022)
5-16451769-C-T		not specified	Uncertain significance (Nov 17, 2023)
5-16451772-A-T		not specified	Uncertain significance (Jan 19, 2024)
5-16453042-T-G		not specified	Uncertain significance (Jun 05, 2024)
5-16453047-C-A		not specified	Uncertain significance (May 20, 2024)
5-16453072-C-T		not specified	Likely benign (Jun 13, 2023)
5-16453094-C-T		not specified	Uncertain significance (Jun 06, 2022)
5-16453126-C-G		not specified	Uncertain significance (May 24, 2024)
5-16458550-C-T		not specified	Uncertain significance (Dec 20, 2023)
5-16458561-T-C		not specified	Uncertain significance (Jun 27, 2022)
5-16463143-A-C		not specified	Uncertain significance (Nov 03, 2023)
5-16463192-T-C		not specified	Uncertain significance (May 11, 2022)
5-16463252-C-A		not specified	Uncertain significance (Apr 08, 2024)
5-16463256-C-A		not specified	Uncertain significance (Sep 22, 2023)
5-16463258-C-A		not specified	Uncertain significance (Aug 04, 2023)
5-16463491-T-G		not specified	Uncertain significance (May 15, 2024)
5-16463568-T-C		not specified	Uncertain significance (Dec 21, 2022)
5-16463629-C-T		not specified	Uncertain significance (May 23, 2023)
5-16463632-G-A		not specified	Uncertain significance (Jul 11, 2023)
5-16463667-T-C		not specified	Uncertain significance (Feb 15, 2023)
5-16463684-G-C		not specified	Likely benign (Sep 26, 2023)
5-16463722-C-T		not specified	Uncertain significance (Jul 11, 2023)
5-16465090-C-G		not specified	Uncertain significance (Apr 12, 2022)
5-16465169-C-G		not specified	Uncertain significance (Jan 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF622	protein_coding	protein_coding	ENST00000308683	6	14274

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.111	0.889	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.383	254	272	0.935	0.0000131	3176
Missense in Polyphen		82	96.888	0.84634		1215
Synonymous	0.0709	105	106	0.991	0.00000544	873
Loss of Function	3.22	6	22.4	0.267	0.00000127	256

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.000163	0.000163
South Asian	0.0000716	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May behave as an activator of the bound transcription factor, MYBL2, and be involved in embryonic development.
• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.250
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.69

Haploinsufficiency Scores

• pHI: 0.0780
• hipred: Y
• hipred_score: 0.756
• ghis: 0.468

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.735

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp622

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;intrinsic apoptotic signaling pathway in response to oxidative stress;positive regulation of kinase activity;ribosomal large subunit biogenesis;positive regulation of apoptotic process;positive regulation of MAPK cascade;positive regulation of JNK cascade
• Cellular component: nucleus;nucleolus;Golgi apparatus;cytosol;cytosolic large ribosomal subunit;preribosome, large subunit precursor
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;RNA binding;protein binding;zinc ion binding