ZNF775

zinc finger protein 775, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:150368789-150398630

Links

ENSG00000196456 ∙ NCBI:285971 ∙ ∙ HGNC:28501 ∙ Uniprot:Q96BV0 ∙ 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 ZNF775 gene.

• Inborn genetic diseases (34 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF775 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			31	3		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	3	0

Variants in ZNF775

This is a list of pathogenic ClinVar variants found in the ZNF775 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-150369736-C-G		not specified	Uncertain significance (Apr 05, 2023)
7-150369797-G-C		not specified	Uncertain significance (Jul 14, 2021)
7-150369808-C-A		not specified	Uncertain significance (Nov 20, 2023)
7-150369842-C-T		not specified	Uncertain significance (Mar 02, 2023)
7-150371299-C-T		not specified	Uncertain significance (Dec 09, 2023)
7-150371342-A-C		not specified	Uncertain significance (Dec 16, 2023)
7-150371485-C-T		not specified	Uncertain significance (Nov 08, 2022)
7-150371543-C-G		not specified	Uncertain significance (Oct 12, 2021)
7-150371561-A-G		not specified	Uncertain significance (Feb 28, 2023)
7-150371594-G-A		not specified	Uncertain significance (May 27, 2022)
7-150371723-G-T		not specified	Uncertain significance (Jul 14, 2021)
7-150371753-C-T		not specified	Uncertain significance (Oct 12, 2021)
7-150371759-A-G		not specified	Uncertain significance (Jul 09, 2021)
7-150371779-G-A		not specified	Uncertain significance (Oct 06, 2021)
7-150371956-G-A		not specified	Uncertain significance (Nov 27, 2023)
7-150372004-C-A		not specified	Uncertain significance (Feb 22, 2023)
7-150372091-C-T		not specified	Uncertain significance (Dec 03, 2021)
7-150372199-T-G		not specified	Uncertain significance (Sep 16, 2021)
7-150372218-G-A		not specified	Uncertain significance (Aug 17, 2022)
7-150372233-A-C		not specified	Uncertain significance (Aug 10, 2021)
7-150372269-C-G		not specified	Uncertain significance (Aug 11, 2022)
7-150372293-C-A		not specified	Uncertain significance (Nov 18, 2022)
7-150372324-A-C			Likely benign (Apr 01, 2023)
7-150372331-C-G		not specified	Uncertain significance (Aug 19, 2021)
7-150372356-C-G		not specified	Uncertain significance (Jul 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF775	protein_coding	protein_coding	ENST00000329630	2	43680

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000700	0.982	123551	0	15	123566	0.0000607

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.49	264	342	0.773	0.0000276	3376
Missense in Polyphen		103	165.67	0.62171		1517
Synonymous	1.02	137	153	0.896	0.0000127	1101
Loss of Function	2.10	8	17.5	0.458	9.06e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000202	0.000191
Ashkenazi Jewish	0.000103	0.000100
East Asian	0.0000568	0.0000558
Finnish	0.00	0.00
European (Non-Finnish)	0.0000689	0.0000629
Middle Eastern	0.0000568	0.0000558
South Asian	0.0000688	0.0000654
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)

Haploinsufficiency Scores

• pHI: 0.221
• hipred: N
• hipred_score: 0.272
• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.411

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp775

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