ZNF276

zinc finger protein 276, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:89720400-89740925

Previous symbols: [ "ZFP276" ]

Links

ENSG00000158805 ∙ NCBI:92822 ∙ OMIM:608460 ∙ HGNC:23330 ∙ Uniprot:Q8N554 ∙ 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 ZNF276 gene.

• not_specified (139 variants)
• Fanconi_anemia_complementation_group_A (15 variants)
• not_provided (12 variants)
• Fanconi_anemia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF276 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001113525.2. 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	4		5
missense			138	4		142
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	139	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF276	protein_coding	protein_coding	ENST00000443381	11	20504

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000790	0.996	125708	0	40	125748	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.77	439	347	1.27	0.0000224	3964
Missense in Polyphen		141	151.99	0.92772		1673
Synonymous	-4.62	222	150	1.48	0.0000106	1246
Loss of Function	2.56	13	27.5	0.473	0.00000144	317

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000904
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.000275	0.000272
Finnish	0.000148	0.0000924
European (Non-Finnish)	0.000204	0.000202
Middle Eastern	0.000275	0.000272
South Asian	0.0000980	0.0000980
Other	0.000171	0.000163

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.175

Intolerance Scores

• loftool: 0.767
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.2

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.331
• ghis: 0.496

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.917

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp276

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: kinetochore;condensed chromosome kinetochore;nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;zinc ion binding