PATZ1

POZ/BTB and AT hook containing zinc finger 1, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 22:31325803-31346346

Previous symbols: [ "ZNF278" ]

Links

ENSG00000100105 ∙ NCBI:23598 ∙ OMIM:605165 ∙ HGNC:13071 ∙ Uniprot:Q9HBE1 ∙ 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 PATZ1 gene.

• Inborn genetic diseases (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PATZ1 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in PATZ1

This is a list of pathogenic ClinVar variants found in the PATZ1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-31326899-C-T		not specified	Uncertain significance (Nov 07, 2022)
22-31326937-A-G		not specified	Uncertain significance (Mar 29, 2023)
22-31327218-C-A		not specified	Uncertain significance (Mar 16, 2022)
22-31328848-G-A		not specified	Likely benign (Mar 07, 2024)
22-31328913-C-T		not specified	Uncertain significance (Jun 13, 2023)
22-31335856-T-C		not specified	Uncertain significance (Dec 28, 2022)
22-31335862-G-A		not specified	Uncertain significance (May 05, 2023)
22-31342904-T-C		not specified	Uncertain significance (Feb 28, 2024)
22-31344594-G-A		not specified	Uncertain significance (Mar 01, 2024)
22-31344621-G-A		not specified	Uncertain significance (Dec 14, 2022)
22-31344680-C-A		not specified	Uncertain significance (Nov 18, 2022)
22-31344818-G-A		not specified	Uncertain significance (Mar 23, 2022)
22-31344831-C-T		not specified	Uncertain significance (Jan 09, 2024)
22-31344912-C-T		not specified	Uncertain significance (Jun 03, 2022)
22-31344924-G-A		not specified	Uncertain significance (Jul 11, 2023)
22-31344986-A-G		not specified	Uncertain significance (Mar 21, 2022)
22-31345041-C-A		Ependymoma	Uncertain significance (Dec 29, 2017)
22-31345311-C-T		not specified	Uncertain significance (Feb 06, 2023)
22-31345521-G-T		not specified	Uncertain significance (Mar 16, 2022)
22-31345532-G-A		not specified	Uncertain significance (Jul 27, 2022)
22-31345571-G-C		not specified	Uncertain significance (Apr 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PATZ1	protein_coding	protein_coding	ENST00000266269	5	20429

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.996	0.00402	125742	0	5	125747	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.11	244	424	0.575	0.0000238	4485
Missense in Polyphen		38	113.6	0.3345		1171
Synonymous	-1.59	206	179	1.15	0.0000103	1435
Loss of Function	4.01	1	20.7	0.0483	0.00000113	238

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor. {ECO:0000269|PubMed:10713105}.
• Pathway: Androgen receptor signaling pathway;AndrogenReceptor;Coregulation of Androgen receptor activity (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.33

Haploinsufficiency Scores

• pHI: 0.693
• hipred: Y
• hipred_score: 0.760
• ghis: 0.640

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.638

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Patz1
• 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); reproductive system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); embryo phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype

Gene ontology

• Biological process: regulation of transcription, DNA-templated;spermatogenesis;male gonad development;T cell differentiation;negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;chromatin binding;metal ion binding