ZNF277

zinc finger protein 277, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:112206695-112343934

Previous symbols: [ "ZNF277P" ]

Links

ENSG00000198839 ∙ NCBI:11179 ∙ OMIM:605465 ∙ HGNC:13070 ∙ Uniprot:Q9NRM2 ∙ 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 ZNF277 gene.

• not_specified (40 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF277 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021994.3. 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		2
missense			38	3		41
nonsense						0
start loss						0
frameshift					1	1
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	40	5	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF277	protein_coding	protein_coding	ENST00000361822	12	136509

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.32e-22	0.000260	124745	16	987	125748	0.00400

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.347	213	228	0.935	0.0000107	3014
Missense in Polyphen		70	71.199	0.98317		991
Synonymous	0.104	82	83.2	0.985	0.00000434	752
Loss of Function	-0.704	30	26.1	1.15	0.00000121	334

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0268	0.0268
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000820	0.000816
Finnish	0.00245	0.00236
European (Non-Finnish)	0.000327	0.000325
Middle Eastern	0.000820	0.000816
South Asian	0.000491	0.000490
Other	0.00278	0.00277

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.917
• rvis_EVS: 0
• rvis_percentile_EVS: 53.73

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.292
• ghis: 0.604

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.975

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp277
• Phenotype: cellular phenotype

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;cellular response to hydrogen peroxide;regulation of cellular senescence
• Cellular component: nucleus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;metal ion binding