MZF1

myeloid zinc finger 1, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 19:58561931-58573575

Previous symbols: [ "ZNF42" ]

Links

ENSG00000099326 ∙ NCBI:7593 ∙ OMIM:194550 ∙ HGNC:13108 ∙ Uniprot:P28698 ∙ 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 MZF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MZF1 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			48		1	49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	1	2

Variants in MZF1

This is a list of pathogenic ClinVar variants found in the MZF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-58562089-C-G		not specified	Uncertain significance (Nov 15, 2021)
19-58562093-C-G		not specified	Uncertain significance (Apr 19, 2024)
19-58562128-G-C		not specified	Uncertain significance (Feb 06, 2023)
19-58562168-G-T		not specified	Uncertain significance (Dec 11, 2023)
19-58562226-G-T		not specified	Uncertain significance (May 17, 2023)
19-58562301-C-T		not specified	Uncertain significance (Jul 25, 2023)
19-58562345-C-A		not specified	Uncertain significance (Oct 26, 2022)
19-58562370-T-A		not specified	Uncertain significance (Mar 21, 2023)
19-58562424-G-T		not specified	Uncertain significance (May 13, 2024)
19-58562490-G-C		not specified	Uncertain significance (Nov 18, 2023)
19-58562547-G-T		not specified	Uncertain significance (Jun 10, 2024)
19-58562569-C-A		not specified	Uncertain significance (Apr 07, 2023)
19-58562592-A-G		not specified	Uncertain significance (Sep 20, 2023)
19-58562599-G-A		not specified	Uncertain significance (Jul 26, 2022)
19-58562662-G-A		not specified	Uncertain significance (Aug 02, 2023)
19-58562663-C-A		not specified	Uncertain significance (Aug 02, 2023)
19-58562693-C-T			Likely benign (Nov 01, 2022)
19-58562737-C-G		not specified	Uncertain significance (Apr 08, 2022)
19-58562754-G-T		not specified	Uncertain significance (Oct 10, 2023)
19-58562766-T-A		not specified	Uncertain significance (Jun 21, 2021)
19-58562773-C-T		not specified	Uncertain significance (Mar 11, 2022)
19-58562793-G-A		not specified	Uncertain significance (Sep 20, 2023)
19-58562822-A-C		not specified	Uncertain significance (Aug 28, 2023)
19-58562827-G-A		not specified	Uncertain significance (Dec 12, 2023)
19-58562841-G-A		not specified	Uncertain significance (Sep 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MZF1	protein_coding	protein_coding	ENST00000215057	5	11645

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.07e-10	0.506	125653	0	95	125748	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.262	484	468	1.03	0.0000276	4640
Missense in Polyphen		194	204.5	0.94867		2151
Synonymous	-1.95	225	191	1.18	0.0000107	1527
Loss of Function	1.23	19	25.8	0.738	0.00000133	244

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00149	0.00139
Ashkenazi Jewish	0.00	0.00
East Asian	0.000736	0.000707
Finnish	0.0000469	0.0000462
European (Non-Finnish)	0.000331	0.000316
Middle Eastern	0.000736	0.000707
South Asian	0.000336	0.000327
Other	0.000679	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to target promoter DNA and functions as transcription regulator. Regulates transcription from the PADI1 and CDH2 promoter. May be one regulator of transcriptional events during hemopoietic development. {ECO:0000269|PubMed:15541732, ECO:0000269|PubMed:17851584}.
• Pathway: Ectoderm Differentiation;overview of telomerase protein component gene htert transcriptional regulation (Consensus)

Recessive Scores

• pRec: 0.181

Intolerance Scores

• loftool: 0.685
• rvis_EVS: 1.25
• rvis_percentile_EVS: 93.47

Haploinsufficiency Scores

• pHI: 0.311
• hipred: N
• hipred_score: 0.170
• ghis: 0.475

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.883

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mzf1
• Phenotype: immune system phenotype; skeleton phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; neoplasm

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;protein homodimerization activity;transcription regulatory region DNA binding;metal ion binding