ZNF808

zinc finger protein 808, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:52527652-52564464

Links

ENSG00000198482 ∙ NCBI:388558 ∙ ∙ HGNC:33230 ∙ Uniprot:Q8N4W9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Pancreatic agenesis 3	AR	Endocrine	The condition can manifest with neonatal diabetes mellitus and exocrine pancreatic insufficiency, and awareness may allow prompt medical management	Endocrine	37308312; 7973953

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF808 gene.

• not_specified (142 variants)
• Pancreatic_agenesis_3 (7 variants)
• not_provided (5 variants)
• See_cases (1 variants)
• Neurodevelopmental_disorder_with_microcephaly,_epilepsy,_and_brain_atrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF808 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039886.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	2	3
missense			125	16	2	143
nonsense	1	1				2
start loss						0
frameshift	4	3				7
splice donor/acceptor (+/-2bp)						0
Total	5	4	125	17	4

Highest pathogenic variant AF is 6.84061e-7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF808	protein_coding	protein_coding	ENST00000359798	3	36813

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.289	0.635	125541	0	3	125544	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.962	539	480	1.12	0.0000268	5982
Missense in Polyphen		188	193.18	0.97318		2609
Synonymous	-2.76	206	161	1.28	0.00000811	1616
Loss of Function	1.35	1	3.85	0.260	1.63e-7	48

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)	0.0000264	0.0000264
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.

Intolerance Scores

• loftool: 0.855
• rvis_EVS: 0.67
• rvis_percentile_EVS: 84.74

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.491

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0746

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;metal ion binding