ZNF287

zinc finger protein 287, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 17:16546953-16569204

Links

ENSG00000141040 ∙ NCBI:57336 ∙ ∙ HGNC:13502 ∙ Uniprot:Q9HBT7 ∙ 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 ZNF287 gene.

• Inborn genetic diseases (17 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF287 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						0
missense			15	3		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	3	0

Variants in ZNF287

This is a list of pathogenic ClinVar variants found in the ZNF287 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-16551863-C-T		not specified	Uncertain significance (May 17, 2023)
17-16551939-G-A		not specified	Uncertain significance (Dec 20, 2022)
17-16551941-C-A		not specified	Uncertain significance (Jan 06, 2023)
17-16551947-T-C			Uncertain significance (Aug 29, 2022)
17-16552338-T-C		not specified	Uncertain significance (Dec 27, 2023)
17-16552356-T-C		not specified	Uncertain significance (Sep 17, 2021)
17-16552904-G-A		not specified	Uncertain significance (Oct 18, 2021)
17-16552955-T-C		not specified	Uncertain significance (Sep 01, 2021)
17-16553049-C-G		Malignant tumor of prostate	Uncertain significance (-)
17-16553093-T-C		not specified	Likely benign (Jul 26, 2021)
17-16553138-A-G		not specified	Likely benign (Aug 16, 2022)
17-16553192-T-C		not specified	Uncertain significance (Nov 03, 2022)
17-16553306-C-T		not specified	Likely benign (Feb 22, 2023)
17-16553321-T-C		not specified	Uncertain significance (Feb 06, 2023)
17-16553352-T-C		not specified	Uncertain significance (Jun 07, 2023)
17-16553358-G-A		not specified	Uncertain significance (Oct 26, 2022)
17-16553388-C-A		not specified	Uncertain significance (Sep 15, 2022)
17-16553388-C-T		not specified	Likely benign (Dec 19, 2022)
17-16563185-A-C		not specified	Uncertain significance (Apr 27, 2023)
17-16563752-T-C		not specified	Uncertain significance (Dec 03, 2021)
17-16567520-C-T		not specified	Uncertain significance (Mar 17, 2023)
17-16567659-C-T		not specified	Uncertain significance (Dec 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF287	protein_coding	protein_coding	ENST00000395824	5	17820

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.583	0.417	125729	0	18	125747	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.37	268	402	0.667	0.0000195	5061
Missense in Polyphen		125	233.37	0.53563		2897
Synonymous	0.516	132	140	0.944	0.00000661	1364
Loss of Function	4.22	7	33.3	0.210	0.00000177	434

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000121	0.000121
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0911

Intolerance Scores

• loftool: 0.536
• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.16

Haploinsufficiency Scores

• pHI: 0.257
• hipred: Y
• hipred_score: 0.543
• ghis: 0.579

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.208

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp287
• Phenotype: skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;regulation of cytokine biosynthetic process;positive regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding