ZNF626

zinc finger protein 626, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:20619938-20661596

Links

ENSG00000188171 ∙ NCBI:199777 ∙ ∙ HGNC:30461 ∙ Uniprot:Q68DY1 ∙ 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 ZNF626 gene.

• Inborn genetic diseases (26 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF626 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				2		2
missense			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	0

Variants in ZNF626

This is a list of pathogenic ClinVar variants found in the ZNF626 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-20624298-T-C		not specified	Uncertain significance (Jun 01, 2022)
19-20624319-C-T		not specified	Uncertain significance (Jun 03, 2022)
19-20624355-A-G		not specified	Uncertain significance (Aug 16, 2021)
19-20624366-A-G		not specified	Uncertain significance (Feb 28, 2024)
19-20624438-G-T		not specified	Uncertain significance (Aug 10, 2021)
19-20624439-G-A		not specified	Uncertain significance (Jul 20, 2021)
19-20624441-C-G		not specified	Uncertain significance (Sep 17, 2021)
19-20624479-A-T			Likely benign (Jan 01, 2023)
19-20624572-G-T		not specified	Uncertain significance (Dec 23, 2022)
19-20624720-G-A		not specified	Uncertain significance (Apr 08, 2022)
19-20624738-C-T		not specified	Uncertain significance (Dec 08, 2021)
19-20624797-C-G		not specified	Uncertain significance (Jun 05, 2023)
19-20624798-T-C		not specified	Uncertain significance (Apr 06, 2023)
19-20624884-A-T		not specified	Uncertain significance (Apr 07, 2022)
19-20624903-G-A		not specified	Uncertain significance (Sep 07, 2022)
19-20624965-C-T			Likely benign (Jan 01, 2023)
19-20624991-G-A		not specified	Uncertain significance (Sep 29, 2023)
19-20625041-T-A		not specified	Uncertain significance (Feb 03, 2022)
19-20625143-G-C		not specified	Uncertain significance (Jan 09, 2023)
19-20625171-T-C		not specified	Uncertain significance (Mar 01, 2023)
19-20625249-A-G		not specified	Uncertain significance (Nov 09, 2021)
19-20625342-C-T		not specified	Uncertain significance (Jul 30, 2023)
19-20625392-C-T		not specified	Uncertain significance (Dec 01, 2022)
19-20625402-T-C		not specified	Uncertain significance (Feb 28, 2024)
19-20625465-T-A		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF626	protein_coding	protein_coding	ENST00000601440	4	41536

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.409	0.558	125717	0	3	125720	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.650	292	262	1.11	0.0000120	3467
Missense in Polyphen		103	115.78	0.88964		1516
Synonymous	0.592	85	92.2	0.922	0.00000434	921
Loss of Function	1.69	1	5.13	0.195	2.18e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
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)

Recessive Scores

• pRec: 0.0731

Intolerance Scores

• loftool: 0.898
• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.18

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.498

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.615

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;metal ion binding