ZNF618

zinc finger protein 618, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 9:113876281-114056593

Links

ENSG00000157657 ∙ NCBI:114991 ∙ OMIM:617077 ∙ HGNC:29416 ∙ Uniprot:Q5T7W0 ∙ 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 ZNF618 gene.

• Inborn genetic diseases (25 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF618 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	2
missense			25	1		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	25	2	1

Variants in ZNF618

This is a list of pathogenic ClinVar variants found in the ZNF618 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-113876391-C-G		not specified	Uncertain significance (Aug 02, 2021)
9-113876391-C-T		not specified	Uncertain significance (Apr 13, 2022)
9-113969122-C-T			Likely benign (May 01, 2023)
9-113969123-G-A		not specified	Uncertain significance (Jan 30, 2024)
9-113969154-C-A		not specified	Uncertain significance (Jun 17, 2022)
9-113988326-G-A		not specified	Uncertain significance (Sep 22, 2022)
9-113988389-C-T		not specified	Uncertain significance (Feb 06, 2023)
9-113988409-A-G		not specified	Uncertain significance (Dec 19, 2023)
9-113988442-C-T		not specified	Uncertain significance (Feb 05, 2024)
9-113988500-C-T			Likely benign (May 01, 2023)
9-113988507-C-G		not specified	Uncertain significance (Sep 27, 2021)
9-113988523-G-A		not specified	Uncertain significance (Jan 03, 2024)
9-113988526-G-A		not specified	Uncertain significance (Feb 08, 2023)
9-113988556-G-A		not specified	Uncertain significance (Feb 28, 2024)
9-114002065-C-T		not specified	Uncertain significance (Nov 18, 2022)
9-114002071-G-A		not specified	Uncertain significance (Aug 22, 2023)
9-114008344-T-G		not specified	Uncertain significance (Jan 31, 2024)
9-114008373-C-T		not specified	Uncertain significance (Aug 12, 2021)
9-114008374-G-A		not specified	Uncertain significance (Jan 03, 2024)
9-114008376-G-C		not specified	Uncertain significance (Aug 03, 2022)
9-114008504-C-T		not specified	Uncertain significance (Oct 12, 2022)
9-114032662-C-T		not specified	Uncertain significance (Jun 16, 2023)
9-114047922-C-G		not specified	Uncertain significance (Jul 05, 2023)
9-114047947-T-C		not specified	Uncertain significance (Oct 26, 2022)
9-114047965-C-T		not specified	Uncertain significance (Jun 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF618	protein_coding	protein_coding	ENST00000288466	14	180310

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00158	124646	0	8	124654	0.0000321

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.50	379	543	0.698	0.0000360	5648
Missense in Polyphen		144	262.07	0.54948		2715
Synonymous	0.00295	244	244	1.00	0.0000193	1639
Loss of Function	5.20	5	40.8	0.122	0.00000192	475

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000159	0.000158
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000177
Middle Eastern	0.0000556	0.0000556
South Asian	0.0000655	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.452
• rvis_EVS: -2.48
• rvis_percentile_EVS: 0.96

Haploinsufficiency Scores

• pHI: 0.166
• hipred: Y
• hipred_score: 0.728
• ghis: 0.617

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.214

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp618

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