ZNF45

zinc finger protein 45, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:43912623-43935282

Previous symbols: [ "ZNF13" ]

Links

ENSG00000124459 ∙ NCBI:7596 ∙ OMIM:194554 ∙ HGNC:13111 ∙ Uniprot:Q02386 ∙ 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 ZNF45 gene.

• Inborn genetic diseases (33 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF45 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			32	1		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	32	1	0

Variants in ZNF45

This is a list of pathogenic ClinVar variants found in the ZNF45 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-43913432-G-C		not specified	Uncertain significance (Jan 07, 2022)
19-43913460-T-C		not specified	Uncertain significance (Aug 23, 2021)
19-43913505-T-G		not specified	Uncertain significance (Sep 06, 2022)
19-43913530-C-T		not specified	Uncertain significance (Oct 20, 2023)
19-43913581-T-C		not specified	Uncertain significance (May 23, 2023)
19-43913682-C-T		not specified	Uncertain significance (Jul 25, 2023)
19-43913713-G-A		not specified	Uncertain significance (Feb 03, 2022)
19-43913736-C-T		not specified	Uncertain significance (Nov 28, 2023)
19-43913752-C-T		not specified	Uncertain significance (Apr 28, 2022)
19-43913882-A-T		not specified	Uncertain significance (Feb 11, 2022)
19-43914097-C-T		not specified	Uncertain significance (Jul 20, 2021)
19-43914099-C-T		not specified	Uncertain significance (Dec 09, 2023)
19-43914157-G-A		not specified	Uncertain significance (Feb 13, 2024)
19-43914195-T-A		not specified	Uncertain significance (Mar 06, 2023)
19-43914241-G-A		not specified	Uncertain significance (Sep 16, 2021)
19-43914355-T-C		not specified	Uncertain significance (Aug 17, 2022)
19-43914451-C-G		not specified	Uncertain significance (Aug 21, 2023)
19-43914555-T-A		not specified	Uncertain significance (May 24, 2023)
19-43914598-C-G		not specified	Uncertain significance (May 24, 2023)
19-43914610-A-G		not specified	Uncertain significance (Apr 10, 2023)
19-43914612-G-A		not specified	Uncertain significance (Mar 17, 2023)
19-43914664-C-T		not specified	Likely benign (Feb 16, 2023)
19-43914718-T-C		not specified	Uncertain significance (Dec 09, 2023)
19-43914774-G-C		not specified	Uncertain significance (May 18, 2023)
19-43914799-C-T		not specified	Uncertain significance (Aug 02, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF45	protein_coding	protein_coding	ENST00000269973	4	22650

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.70e-7	0.993	125670	0	76	125746	0.000302

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.880	313	360	0.869	0.0000179	4506
Missense in Polyphen		152	190.47	0.79804		2268
Synonymous	-0.217	129	126	1.02	0.00000590	1204
Loss of Function	2.44	15	29.3	0.513	0.00000169	372

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000381	0.000381
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000381	0.000381
Finnish	0.000278	0.000277
European (Non-Finnish)	0.000344	0.000343
Middle Eastern	0.000381	0.000381
South Asian	0.000360	0.000359
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: 0.109

Intolerance Scores

• loftool: 0.845
• rvis_EVS: 0.45
• rvis_percentile_EVS: 77.98

Haploinsufficiency Scores

• pHI: 0.214
• hipred: N
• hipred_score: 0.214
• ghis: 0.558

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.850

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;multicellular organism development
• Cellular component: nucleus;nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;metal ion binding