ZNF177

zinc finger protein 177, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:9363013-9382617

Links

ENSG00000188629 ∙ NCBI:7730 ∙ OMIM:601276 ∙ HGNC:12966 ∙ Uniprot:Q13360 ∙ 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 ZNF177 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF177 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			13	2		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	2	0

Variants in ZNF177

This is a list of pathogenic ClinVar variants found in the ZNF177 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-9380090-T-C		not specified	Uncertain significance (Jan 24, 2024)
19-9380749-A-G		not specified	Uncertain significance (Dec 31, 2024)
19-9380786-A-G		not specified	Uncertain significance (Nov 17, 2023)
19-9380793-C-A		not specified	Uncertain significance (Aug 27, 2024)
19-9380866-A-G		not specified	Uncertain significance (Apr 19, 2023)
19-9380896-T-C		not specified	Uncertain significance (Nov 09, 2024)
19-9380924-C-T		not specified	Likely benign (Oct 21, 2024)
19-9380978-A-G		not specified	Uncertain significance (May 30, 2022)
19-9380981-C-T		not specified	Uncertain significance (Aug 14, 2023)
19-9380984-C-T		not specified	Uncertain significance (May 23, 2023)
19-9380990-C-T		not specified	Uncertain significance (Apr 07, 2023)
19-9380995-C-T		not specified	Uncertain significance (Jul 13, 2021)
19-9381071-C-A		not specified	Likely benign (Nov 21, 2024)
19-9381122-C-T		not specified	Uncertain significance (Oct 30, 2023)
19-9381608-G-A		not specified	Uncertain significance (Oct 20, 2024)
19-9381652-G-A		not specified	Uncertain significance (Feb 02, 2025)
19-9381658-G-C		not specified	Uncertain significance (Feb 23, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF177	protein_coding	protein_coding	ENST00000434737	5	58273

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000247	0.751	125674	0	70	125744	0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.714	274	243	1.13	0.0000111	3198
Missense in Polyphen		106	95.927	1.105		1272
Synonymous	-2.19	109	83.5	1.31	0.00000372	847
Loss of Function	1.22	11	16.3	0.675	6.80e-7	245

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00110	0.00110
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000708	0.000707
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.000708	0.000707
South Asian	0.000196	0.000196
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0817

Intolerance Scores

• loftool: 0.978
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.69

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.112
• ghis: 0.520

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0431

Gene Damage Prediction

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

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II
• Cellular component: nucleus;blood microparticle
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding