ZNF613

zinc finger protein 613, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:51927147-51948759

Links

ENSG00000176024 ∙ NCBI:79898 ∙ ∙ HGNC:25827 ∙ Uniprot:Q6PF04 ∙ 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 ZNF613 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF613 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			30	3		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	3	0

Variants in ZNF613

This is a list of pathogenic ClinVar variants found in the ZNF613 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-51940269-G-A		not specified	Uncertain significance (May 07, 2024)
19-51940320-A-G		not specified	Uncertain significance (Apr 19, 2023)
19-51944125-A-C		not specified	Uncertain significance (Feb 14, 2024)
19-51944131-T-C		not specified	Uncertain significance (Jul 05, 2022)
19-51944191-G-T		not specified	Uncertain significance (Aug 02, 2021)
19-51944194-A-G		not specified	Uncertain significance (May 23, 2024)
19-51944204-T-G		not specified	Uncertain significance (Jun 05, 2023)
19-51944421-G-A		not specified	Likely benign (Apr 21, 2022)
19-51944424-G-T		not specified	Likely benign (Oct 27, 2021)
19-51944526-A-G		not specified	Uncertain significance (Aug 02, 2022)
19-51944556-G-A		not specified	Uncertain significance (Sep 07, 2022)
19-51944691-C-G		not specified	Uncertain significance (Aug 02, 2023)
19-51944691-C-T		not specified	Uncertain significance (Aug 23, 2021)
19-51944706-C-T		not specified	Uncertain significance (Oct 03, 2022)
19-51944745-T-C		not specified	Uncertain significance (Jan 09, 2024)
19-51944787-C-T		not specified	Uncertain significance (Aug 02, 2021)
19-51944788-G-A		not specified	Uncertain significance (Feb 23, 2023)
19-51944807-A-C		not specified	Uncertain significance (Aug 08, 2023)
19-51944831-T-A		not specified	Uncertain significance (Jul 31, 2023)
19-51944922-A-C		not specified	Uncertain significance (Jun 11, 2021)
19-51944951-A-C		not specified	Uncertain significance (Dec 14, 2023)
19-51944961-A-G		not specified	Uncertain significance (Mar 20, 2023)
19-51944986-G-T		not specified	Uncertain significance (Apr 23, 2024)
19-51945091-A-G		not specified	Likely benign (Jul 20, 2021)
19-51945141-C-T		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF613	protein_coding	protein_coding	ENST00000293471	4	21613

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000818	0.996	125675	0	73	125748	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.365	311	330	0.943	0.0000164	4087
Missense in Polyphen		81	90.159	0.89842		1137
Synonymous	1.46	96	116	0.828	0.00000563	1108
Loss of Function	2.60	9	22.2	0.405	0.00000125	282

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000421	0.000418
Ashkenazi Jewish	0.00	0.00
East Asian	0.000436	0.000435
Finnish	0.000375	0.000370
European (Non-Finnish)	0.000335	0.000316
Middle Eastern	0.000436	0.000435
South Asian	0.000294	0.000294
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.902
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.49

Haploinsufficiency Scores

• pHI: 0.461
• hipred: N
• hipred_score: 0.132
• ghis: 0.503

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.287

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp157
• Phenotype: reproductive system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;transcription regulatory region DNA binding;metal ion binding