ZFP69B

ZFP69 zinc finger protein B, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 1:40450101-40463718

Previous symbols: [ "ZNF643" ]

Links

ENSG00000187801 ∙ NCBI:65243 ∙ ∙ HGNC:28053 ∙ Uniprot:Q9UJL9 ∙ 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 ZFP69B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFP69B 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				1		1
non coding						0
Total	0	0	25	3	0

Variants in ZFP69B

This is a list of pathogenic ClinVar variants found in the ZFP69B region.

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

Position	Type	Phenotype	Significance	ClinVar
1-40451005-C-T		not specified	Uncertain significance (Jun 07, 2024)
1-40451020-G-A		not specified	Likely benign (Apr 06, 2023)
1-40454236-G-A		not specified	Uncertain significance (May 16, 2024)
1-40456999-C-A		not specified	Uncertain significance (Jan 24, 2024)
1-40457006-C-A		not specified	Uncertain significance (Aug 22, 2023)
1-40457030-G-A		not specified	Uncertain significance (Jan 10, 2023)
1-40457336-A-G			Likely benign (Jan 01, 2024)
1-40457362-C-T		not specified	Uncertain significance (May 05, 2023)
1-40457367-G-A		not specified	Uncertain significance (Nov 07, 2022)
1-40457386-A-G		not specified	Uncertain significance (Dec 09, 2023)
1-40457412-A-G		not specified	Uncertain significance (Jun 20, 2024)
1-40457419-T-C		not specified	Uncertain significance (Nov 02, 2023)
1-40462469-T-G		not specified	Uncertain significance (Sep 22, 2023)
1-40462478-A-G		not specified	Uncertain significance (Aug 26, 2022)
1-40462502-T-C		not specified	Uncertain significance (Jun 29, 2023)
1-40462526-G-A		not specified	Uncertain significance (Apr 25, 2023)
1-40462592-G-T		not specified	Uncertain significance (Jan 03, 2022)
1-40462620-G-A		not specified	Likely benign (Aug 19, 2021)
1-40462678-A-G		not specified	Uncertain significance (Dec 27, 2023)
1-40462868-C-T		not specified	Uncertain significance (Nov 09, 2021)
1-40462880-G-A			Likely benign (May 02, 2018)
1-40462912-A-G		not specified	Uncertain significance (Aug 15, 2023)
1-40462951-A-G		not specified	Uncertain significance (May 05, 2023)
1-40462964-G-T		not specified	Uncertain significance (Dec 03, 2021)
1-40463077-T-G		not specified	Uncertain significance (Sep 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZFP69B	protein_coding	protein_coding	ENST00000411995	5	13617

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.02e-13	0.0284	125593	0	154	125747	0.000613

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.682	241	273	0.884	0.0000129	3528
Missense in Polyphen		80	88.459	0.90437		1182
Synonymous	0.231	97	99.9	0.971	0.00000516	954
Loss of Function	0.0278	19	19.1	0.993	8.00e-7	291

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000974	0.000971
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.000544	0.000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000419	0.000413
Middle Eastern	0.000544	0.000544
South Asian	0.00231	0.00213
Other	0.000505	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• rvis_EVS: 1.11
• rvis_percentile_EVS: 92.06

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.112
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	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;protein binding;metal ion binding