ZNF607

zinc finger protein 607, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37696370-37719761

Links

ENSG00000198182 ∙ NCBI:84775 ∙ ∙ HGNC:28192 ∙ Uniprot:Q96SK3 ∙ 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 ZNF607 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF607 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				1		1
missense			39	2	1	42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	3	1

Variants in ZNF607

This is a list of pathogenic ClinVar variants found in the ZNF607 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-37698081-G-A		not specified	Uncertain significance (Mar 16, 2022)
19-37698149-C-T		not specified	Uncertain significance (Jan 16, 2024)
19-37698161-C-T		not specified	Uncertain significance (Jan 24, 2023)
19-37698249-A-C		not specified	Uncertain significance (Dec 05, 2022)
19-37698263-C-G		not specified	Uncertain significance (Sep 14, 2023)
19-37698365-T-C		not specified	Uncertain significance (Jun 02, 2023)
19-37698402-T-C		not specified	Uncertain significance (Mar 25, 2024)
19-37698414-C-T		not specified	Uncertain significance (Jan 31, 2023)
19-37698435-A-C		not specified	Uncertain significance (Dec 27, 2023)
19-37698449-T-C		not specified	Uncertain significance (Apr 08, 2022)
19-37698488-A-G		not specified	Uncertain significance (Oct 06, 2022)
19-37698534-A-G		not specified	Uncertain significance (Jun 22, 2021)
19-37698548-C-G		not specified	Uncertain significance (Jul 06, 2021)
19-37698613-T-G		not specified	Uncertain significance (May 20, 2024)
19-37698651-T-C		not specified	Uncertain significance (Feb 27, 2023)
19-37698672-T-G		not specified	Uncertain significance (Mar 28, 2024)
19-37698678-C-T		not specified	Uncertain significance (Aug 22, 2023)
19-37698687-A-G		not specified	Uncertain significance (Oct 12, 2021)
19-37698716-G-A		not specified	Uncertain significance (Oct 06, 2022)
19-37698750-C-T		not specified	Uncertain significance (Feb 17, 2024)
19-37698793-G-A			Likely benign (Oct 01, 2022)
19-37698833-C-A		not specified	Uncertain significance (Jul 15, 2021)
19-37698833-C-T			Benign (Aug 03, 2017)
19-37698882-C-T		not specified	Uncertain significance (Jun 24, 2022)
19-37698890-A-G		not specified	Uncertain significance (Mar 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF607	protein_coding	protein_coding	ENST00000355202	4	23428

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000235	0.913	125543	0	205	125748	0.000815

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.207	395	384	1.03	0.0000187	4692
Missense in Polyphen		113	124.93	0.90451		1586
Synonymous	0.281	124	128	0.968	0.00000644	1193
Loss of Function	1.67	12	20.1	0.598	0.00000117	270

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00250	0.00250
Ashkenazi Jewish	0.000794	0.000794
East Asian	0.00109	0.00109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000750	0.000747
Middle Eastern	0.00109	0.00109
South Asian	0.000919	0.000915
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.100

Intolerance Scores

• rvis_EVS: -0.06
• rvis_percentile_EVS: 48.84

Haploinsufficiency Scores

• pHI: 0.209
• hipred: N
• hipred_score: 0.146
• ghis: 0.558

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.985

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
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding