ZNF787

zinc finger protein 787, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:56087366-56121295

Links

ENSG00000142409 ∙ NCBI:126208 ∙ ∙ HGNC:26998 ∙ Uniprot:Q6DD87 ∙ 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 ZNF787 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF787 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			25	3		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	25	4	0

Variants in ZNF787

This is a list of pathogenic ClinVar variants found in the ZNF787 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-56088037-C-T		not specified	Uncertain significance (Jan 04, 2022)
19-56088086-C-G		Oromandibular-limb hypogenesis spectrum	Uncertain significance (Aug 12, 2016)
19-56088294-G-A		not specified	Uncertain significance (Mar 14, 2023)
19-56088345-G-A		not specified	Uncertain significance (Oct 14, 2023)
19-56088352-C-G		not specified	Uncertain significance (Oct 18, 2021)
19-56088373-C-A		not specified	Uncertain significance (Oct 18, 2021)
19-56088373-C-G		not specified	Uncertain significance (Apr 07, 2023)
19-56088382-C-A		not specified	Uncertain significance (Apr 10, 2023)
19-56088382-C-T		not specified	Uncertain significance (Feb 10, 2023)
19-56088388-C-T		not specified	Uncertain significance (Apr 07, 2023)
19-56088395-C-T		not specified	Uncertain significance (Feb 14, 2023)
19-56088397-T-C		not specified	Uncertain significance (Jun 03, 2022)
19-56088412-C-T		not specified	Uncertain significance (Jun 02, 2024)
19-56088415-C-A		not specified	Uncertain significance (Jul 14, 2023)
19-56088429-G-C		not specified	Uncertain significance (Jul 14, 2022)
19-56088435-A-C		not specified	Uncertain significance (Sep 16, 2021)
19-56088463-C-T		not specified	Uncertain significance (Jul 06, 2021)
19-56088489-G-A		not specified	Uncertain significance (Aug 17, 2021)
19-56088492-A-G		not specified	Likely benign (Apr 07, 2023)
19-56088539-C-G		not specified	Uncertain significance (Apr 21, 2022)
19-56088609-C-A		not specified	Uncertain significance (May 04, 2022)
19-56088688-T-C		not specified	Uncertain significance (May 07, 2024)
19-56088721-T-C		not specified	Likely benign (Apr 07, 2023)
19-56088797-C-G		not specified	Uncertain significance (Apr 07, 2023)
19-56088798-A-G		not specified	Likely benign (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF787	protein_coding	protein_coding	ENST00000270459	2	33918

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.891	0.108	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.44	92	185	0.496	0.0000145	2397
Missense in Polyphen		33	106.6	0.30956		1307
Synonymous	-0.701	100	91.5	1.09	0.00000857	773
Loss of Function	2.49	0	7.20	0.00	3.10e-7	95

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.192
• hipred: Y
• hipred_score: 0.531
• ghis: 0.517

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.781

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp787

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