ZNF350

zinc finger protein 350, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:51964339-51986856

Links

ENSG00000256683 ∙ NCBI:59348 ∙ OMIM:605422 ∙ HGNC:16656 ∙ Uniprot:Q9GZX5 ∙ 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 ZNF350 gene.

• Inborn genetic diseases (24 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF350 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			23	3	1	27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	3	1

Variants in ZNF350

This is a list of pathogenic ClinVar variants found in the ZNF350 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-51964867-G-C		not specified	Uncertain significance (Sep 29, 2023)
19-51964883-C-T			Likely benign (May 01, 2022)
19-51964997-G-A		not specified	Uncertain significance (Oct 20, 2023)
19-51965003-C-T		not specified	Likely benign (Feb 15, 2023)
19-51965015-C-T		not specified	Uncertain significance (Aug 17, 2022)
19-51965074-G-A			Benign (Dec 31, 2019)
19-51965078-C-T		not specified	Uncertain significance (Dec 21, 2022)
19-51965125-C-G		not specified	Uncertain significance (Jul 09, 2021)
19-51965131-C-T		not specified	Uncertain significance (Dec 16, 2022)
19-51965226-T-G		not specified	Uncertain significance (Mar 16, 2022)
19-51965240-T-C		not specified	Uncertain significance (Feb 15, 2023)
19-51965248-T-C		not specified	Uncertain significance (Aug 04, 2023)
19-51965274-T-G			Likely benign (May 01, 2022)
19-51965308-G-C		not specified	Uncertain significance (Aug 08, 2023)
19-51965309-C-T		not specified	Uncertain significance (Jan 11, 2023)
19-51965369-T-C		not specified	Uncertain significance (Feb 17, 2024)
19-51965422-G-A		not specified	Uncertain significance (Jun 21, 2023)
19-51965428-C-T		not specified	Uncertain significance (Jun 11, 2021)
19-51965437-A-C		not specified	Uncertain significance (Dec 19, 2022)
19-51965524-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-51965626-C-T		not specified	Uncertain significance (May 27, 2022)
19-51965750-T-C		not specified	Uncertain significance (Apr 26, 2023)
19-51965809-A-T		not specified	Uncertain significance (Jul 30, 2023)
19-51965857-G-A		not specified	Uncertain significance (Jan 06, 2023)
19-51966113-G-T		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF350	protein_coding	protein_coding	ENST00000243644	4	22514

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000639	0.980	125707	0	38	125745	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.24	227	286	0.794	0.0000142	3535
Missense in Polyphen		63	85.113	0.74019		1106
Synonymous	1.56	85	105	0.807	0.00000567	971
Loss of Function	2.06	8	17.2	0.465	0.00000111	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.000489	0.000489
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000176	0.000176
Middle Eastern	0.000489	0.000489
South Asian	0.0000981	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor. Binds to a specific sequence, 5'-GGGxxxCAGxxxTTT-3', within GADD45 intron 3. {ECO:0000269|PubMed:11090615}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.167

Intolerance Scores

• loftool: 0.892
• rvis_EVS: 0.84
• rvis_percentile_EVS: 88.38

Haploinsufficiency Scores

• pHI: 0.219
• hipred: N
• hipred_score: 0.132
• ghis: 0.440

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.824

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;regulation of transcription, DNA-templated;negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;nuclear matrix;nuclear body;transcriptional repressor complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;protein binding;transcription regulatory region DNA binding;metal ion binding