ZNF180

zinc finger protein 180, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44474428-44500524

Links

ENSG00000167384 ∙ NCBI:7733 ∙ OMIM:606740 ∙ HGNC:12970 ∙ Uniprot:Q9UJW8 ∙ 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 ZNF180 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF180 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			39			39
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	2	0

Variants in ZNF180

This is a list of pathogenic ClinVar variants found in the ZNF180 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44476524-T-C		not specified	Uncertain significance (Jul 19, 2023)
19-44476569-A-T		not specified	Uncertain significance (Dec 21, 2023)
19-44476595-C-T		not specified	Uncertain significance (May 01, 2024)
19-44476606-T-A		not specified	Uncertain significance (Jan 03, 2024)
19-44476631-C-T		not specified	Uncertain significance (Apr 13, 2023)
19-44476715-C-T		not specified	Uncertain significance (Sep 20, 2023)
19-44476733-C-T		not specified	Uncertain significance (Dec 06, 2021)
19-44476803-G-A		not specified	Uncertain significance (Feb 28, 2023)
19-44476938-G-T		not specified	Uncertain significance (Dec 21, 2023)
19-44476976-A-C		not specified	Uncertain significance (Mar 25, 2024)
19-44476985-C-G		not specified	Uncertain significance (Sep 01, 2021)
19-44476988-C-T		not specified	Uncertain significance (May 23, 2023)
19-44477004-A-G		not specified	Uncertain significance (Mar 08, 2024)
19-44477006-G-A		not specified	Uncertain significance (Jan 16, 2024)
19-44477036-G-A		not specified	Uncertain significance (May 10, 2022)
19-44477123-A-G		not specified	Uncertain significance (Apr 17, 2024)
19-44477258-G-A		not specified	Uncertain significance (Jun 04, 2024)
19-44477292-C-A		not specified	Uncertain significance (Sep 12, 2023)
19-44477300-G-A		not specified	Uncertain significance (Sep 29, 2023)
19-44477330-C-G		not specified	Uncertain significance (Apr 25, 2022)
19-44477338-A-G			Likely benign (Sep 01, 2022)
19-44477355-T-G		not specified	Uncertain significance (Jul 27, 2023)
19-44477391-A-G		not specified	Uncertain significance (Sep 26, 2023)
19-44477474-T-C		not specified	Uncertain significance (Nov 05, 2021)
19-44477511-A-C		not specified	Likely benign (May 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF180	protein_coding	protein_coding	ENST00000221327	5	24723

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.49e-7	0.958	125504	1	243	125748	0.000971

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.209	346	357	0.969	0.0000167	4641
Missense in Polyphen		114	128.55	0.88682		1660
Synonymous	-1.57	143	121	1.18	0.00000561	1203
Loss of Function	1.97	15	25.8	0.582	0.00000116	353

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00141	0.00141
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00121	0.00120
Finnish	0.000231	0.000231
European (Non-Finnish)	0.00109	0.00108
Middle Eastern	0.00121	0.00120
South Asian	0.00157	0.00154
Other	0.00196	0.00196

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: 0.896
• rvis_EVS: 1.16
• rvis_percentile_EVS: 92.6

Haploinsufficiency Scores

• pHI: 0.161
• hipred: N
• hipred_score: 0.112
• ghis: 0.486

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.269

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Zfp180

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