ZNF283

zinc finger protein 283, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:43827321-43852017

Links

ENSG00000167637 ∙ NCBI:284349 ∙ ∙ HGNC:13077 ∙ Uniprot:Q8N7M2 ∙ 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 ZNF283 gene.

• not_specified (66 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF283 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000181845.2. 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	1	2
missense			66			66
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF283	protein_coding	protein_coding	ENST00000324461	4	21864

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.41e-9	0.533	125615	0	96	125711	0.000382

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.991	279	330	0.846	0.0000155	4511
Missense in Polyphen		71	107.89	0.65809		1340
Synonymous	-0.169	112	110	1.02	0.00000534	1145
Loss of Function	1.13	16	21.7	0.739	0.00000105	349

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000535	0.000529
Ashkenazi Jewish	0.000696	0.000695
East Asian	0.000218	0.000217
Finnish	0.000277	0.000277
European (Non-Finnish)	0.000310	0.000308
Middle Eastern	0.000218	0.000217
South Asian	0.000922	0.000915
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.859
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.96

Haploinsufficiency Scores

• pHI: 0.147
• hipred: N
• hipred_score: 0.112
• ghis: 0.519

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

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