ZNF276

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

Basic information

Region (hg38): 16:89720399-89740925

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.

• Fanconi anemia (479 variants)
• Fanconi anemia complementation group A (180 variants)
• not provided (99 variants)
• Inborn genetic diseases (51 variants)
• not specified (39 variants)
• FANCA-related condition (5 variants)
• Microcephaly (2 variants)
• Ovarian cancer (2 variants)
• Neuroblastoma (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.

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				2		2
missense			45	1	1	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding	39	44	213	210	25	531
Total	39	44	258	213	26

Highest pathogenic variant AF is 0.0000920

Variants in ZNF276

This is a list of pathogenic ClinVar variants found in the ZNF276 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-89720779-G-C		not specified	Uncertain significance (Dec 28, 2023)
16-89720827-G-A		not specified	Uncertain significance (Aug 12, 2022)
16-89720839-C-T		not specified	Uncertain significance (Aug 10, 2021)
16-89721645-A-G		not specified	Uncertain significance (Mar 14, 2023)
16-89721674-C-G		not specified	Uncertain significance (Mar 06, 2023)
16-89721677-G-A		not specified	Uncertain significance (Jul 21, 2021)
16-89721684-C-G		not specified	Uncertain significance (Oct 04, 2022)
16-89721693-G-C		not specified	Uncertain significance (Dec 14, 2021)
16-89721698-G-A		not specified	Uncertain significance (Oct 04, 2022)
16-89721726-G-A		not specified	Uncertain significance (Aug 05, 2023)
16-89721732-G-C		not specified	Uncertain significance (Apr 13, 2022)
16-89721746-C-T		not specified	Uncertain significance (Aug 09, 2021)
16-89721759-C-G		not specified	Uncertain significance (May 05, 2023)
16-89721793-G-C		not specified	Uncertain significance (Jan 29, 2024)
16-89721794-G-T		not specified	Uncertain significance (Aug 17, 2021)
16-89721804-G-C		not specified	Uncertain significance (Jan 23, 2023)
16-89722536-G-C		not specified	Uncertain significance (Jan 23, 2023)
16-89722624-G-T		not specified	Uncertain significance (Jan 03, 2024)
16-89722639-G-C		not specified	Uncertain significance (Mar 29, 2023)
16-89722641-C-G		not specified	Uncertain significance (Jan 03, 2024)
16-89722680-C-T		not specified	Uncertain significance (Aug 13, 2021)
16-89722765-A-G		not specified	Uncertain significance (Jul 06, 2021)
16-89722784-C-A		not specified	Uncertain significance (Aug 04, 2023)
16-89722801-C-T		not specified	Likely benign (Oct 20, 2023)
16-89722813-G-A		not specified	Uncertain significance (Apr 25, 2022)

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