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.

not_specified (117 variants)
not_provided (3 variants)

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. These statistics are base on transcript: NM_000198055.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			111 clinvar	6 clinvar	1 clinvar	118
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	111	7	2

Loading clinvar variants...

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