ZNF804B

zinc finger protein 804B, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:88759700-89338528

Links

ENSG00000182348 ∙ NCBI:219578 ∙ ∙ HGNC:21958 ∙ Uniprot:A4D1E1 ∙ 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 ZNF804B gene.

• not_specified (161 variants)
• not_provided (17 variants)
• Normal_pregnancy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF804B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181646.5. 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				2	4	6
missense			147	13	10	170
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	147	15	14

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF804B	protein_coding	protein_coding	ENST00000333190	4	577665

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.35e-18	0.285	125649	0	99	125748	0.000394

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.751	726	671	1.08	0.0000322	8949
Missense in Polyphen		168	161.32	1.0414		2233
Synonymous	-1.72	286	251	1.14	0.0000127	2484
Loss of Function	1.55	33	44.1	0.749	0.00000217	632

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00101	0.00100
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.000491	0.000489
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000407	0.000396
Middle Eastern	0.000491	0.000489
South Asian	0.000360	0.000359
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.872
• rvis_EVS: 3.37
• rvis_percentile_EVS: 99.44

Haploinsufficiency Scores

• pHI: 0.0935
• hipred: N
• hipred_score: 0.153
• ghis: 0.386

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0373

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp804b

Gene ontology

• Molecular function: nucleic acid binding;metal ion binding