JAZF1

JAZF zinc finger 1, the group of Zinc fingers C2H2-type|Tip60/Nua4 histone acetyltransferase complex subunits

Basic information

Region (hg38): 7:27830572-28180795

Links

ENSG00000153814 ∙ NCBI:221895 ∙ OMIM:606246 ∙ HGNC:28917 ∙ Uniprot:Q86VZ6 ∙ 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 JAZF1 gene.

• Inborn genetic diseases (6 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the JAZF1 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	6	0	1

Variants in JAZF1

This is a list of pathogenic ClinVar variants found in the JAZF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-27832837-G-A		not specified	Uncertain significance (Mar 01, 2023)
7-27840765-A-G		not specified	Uncertain significance (Jun 29, 2023)
7-27840820-C-T		not specified	Uncertain significance (Dec 20, 2023)
7-27895293-G-T		not specified	Uncertain significance (Apr 11, 2023)
7-27895354-A-G		not specified	Uncertain significance (Jun 24, 2022)
7-27991969-C-T		not specified	Uncertain significance (Aug 11, 2022)
7-27991980-A-T		not specified	Uncertain significance (Dec 08, 2021)
7-28149792-T-C			Benign (Apr 28, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
JAZF1	protein_coding	protein_coding	ENST00000283928	5	350171

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.896	0.104	121066	0	1	121067	0.00000413

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.35	66	146	0.453	0.00000823	1589
Missense in Polyphen		10	42.566	0.23493		494
Synonymous	-0.896	68	59.2	1.15	0.00000355	473
Loss of Function	2.90	1	11.7	0.0853	6.45e-7	130

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000905	0.00000905
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2 (PubMed:15302918). Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD (By similarity). Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue (By similarity). Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity (By similarity). {ECO:0000250|UniProtKB:Q80ZQ5, ECO:0000269|PubMed:15302918}.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.399
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

• pHI: 0.490
• hipred: Y
• hipred_score: 0.688
• ghis: 0.522

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Jazf1

Zebrafish Information Network

• Gene name: jazf1b
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: increased curvature

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;lipid metabolic process
• Cellular component: fibrillar center;nucleus;cytosol;transcriptional repressor complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;nucleic acid binding;transcription corepressor activity;protein binding;metal ion binding