ZNF747

zinc finger protein 747, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:30530367-30535347

Links

ENSG00000169955 ∙ NCBI:65988 ∙ ∙ HGNC:28350 ∙ Uniprot:Q9BV97 ∙ 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 ZNF747 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF747 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			7	2		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	2	0

Variants in ZNF747

This is a list of pathogenic ClinVar variants found in the ZNF747 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30534250-T-C		not specified	Likely benign (Aug 23, 2021)
16-30534264-C-G		not specified	Uncertain significance (Aug 17, 2022)
16-30534270-C-T		not specified	Uncertain significance (Apr 23, 2024)
16-30534277-C-T		not specified	Uncertain significance (May 23, 2024)
16-30534324-A-G		not specified	Uncertain significance (Mar 29, 2023)
16-30534342-G-A		not specified	Uncertain significance (Jan 16, 2024)
16-30534343-A-G		not specified	Likely benign (May 18, 2023)
16-30534559-C-G		not specified	Uncertain significance (Jun 21, 2023)
16-30534587-C-G		not specified	Uncertain significance (Jul 20, 2022)
16-30534600-G-C		not specified	Uncertain significance (Apr 14, 2023)
16-30534673-C-G		not specified	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF747	protein_coding	protein_coding	ENST00000252799	2	9425

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0724	0.756	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.240	117	110	1.06	0.00000550	1150
Missense in Polyphen		35	24.642	1.4203		252
Synonymous	-0.449	56	51.9	1.08	0.00000261	443
Loss of Function	0.960	2	4.10	0.488	1.75e-7	45

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

• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Haploinsufficiency Scores

• pHI: 0.228
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.484

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;nucleic acid binding;protein binding