ZBTB17

zinc finger and BTB domain containing 17, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 1:15941869-15976132

Previous symbols: [ "ZNF151", "ZNF60" ]

Links

ENSG00000116809 ∙ NCBI:7709 ∙ OMIM:604084 ∙ HGNC:12936 ∙ Uniprot:Q13105 ∙ 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 ZBTB17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB17 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				4	3	7
missense			31	2		33
nonsense						0
start loss						0
frameshift						0
inframe indel			1			1
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding				2	13	15
Total	0	0	32	8	16

Variants in ZBTB17

This is a list of pathogenic ClinVar variants found in the ZBTB17 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-15941940-TTAAA-T			Benign (May 21, 2021)
1-15942000-G-A		not specified	Uncertain significance (Dec 31, 2023)
1-15942052-G-A		not specified	Uncertain significance (Jun 02, 2024)
1-15942127-C-T		not specified	Uncertain significance (Jan 03, 2024)
1-15942149-C-T		ZBTB17-related disorder	Likely benign (Jan 11, 2024)
1-15942159-G-A		not specified	Uncertain significance (Feb 09, 2023)
1-15942171-C-T		not specified	Uncertain significance (Apr 08, 2022)
1-15942246-T-C		not specified	Uncertain significance (Sep 16, 2021)
1-15942289-C-T			Benign (May 25, 2021)
1-15942322-C-T		ZBTB17-related disorder	Likely benign (Jun 26, 2019)
1-15942376-G-C		not specified	Uncertain significance (Dec 08, 2023)
1-15942537-T-C		not specified	Uncertain significance (Oct 06, 2022)
1-15942545-G-C			Benign (May 14, 2018)
1-15942695-G-T		not specified	Uncertain significance (Apr 07, 2022)
1-15942982-T-TG			Benign (May 19, 2021)
1-15943190-C-T		not specified	Uncertain significance (Mar 24, 2023)
1-15943242-C-T			Benign (May 19, 2021)
1-15943436-C-T		not specified	Uncertain significance (Feb 14, 2023)
1-15943442-G-A		not specified	Uncertain significance (May 14, 2024)
1-15943451-C-T		not specified	Uncertain significance (Feb 06, 2024)
1-15943471-G-A		not specified	Uncertain significance (May 09, 2022)
1-15943499-C-G		not specified	Uncertain significance (Feb 06, 2023)
1-15943899-T-C		ZBTB17-related disorder	Likely benign (Dec 20, 2023)
1-15944172-CTGGGTGAACAAGCTGA-C			Benign (May 26, 2021)
1-15944343-T-C		not specified	Uncertain significance (Sep 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB17	protein_coding	protein_coding	ENST00000375743	14	34264

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.979	0.0207	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.73	289	531	0.544	0.0000363	5244
Missense in Polyphen		145	288.45	0.50269		2908
Synonymous	1.66	207	240	0.864	0.0000198	1539
Loss of Function	4.84	6	38.3	0.157	0.00000189	420

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000151	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000447	0.0000439
Middle Eastern	0.000111	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrulation. Represses RB1 transcription; this repression can be blocked by interaction with ZBTB49 isoform 3/ZNF509S1 (PubMed:25245946). {ECO:0000269|PubMed:16142238, ECO:0000269|PubMed:19164764, ECO:0000269|PubMed:25245946, ECO:0000269|PubMed:9308237, ECO:0000269|PubMed:9312026}.
• Pathway: Cell cycle - Homo sapiens (human);Small cell lung cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);XBP1(S) activates chaperone genes;C-MYC pathway;TNFalpha;Validated targets of C-MYC transcriptional repression;Regulation of nuclear SMAD2/3 signaling (Consensus)

Recessive Scores

• pRec: 0.146

Intolerance Scores

• loftool: 0.433
• rvis_EVS: -0.69
• rvis_percentile_EVS: 15.2

Haploinsufficiency Scores

• pHI: 0.919
• hipred: Y
• hipred_score: 0.825
• ghis: 0.635

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.952

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb17
• Phenotype: growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; cellular phenotype; hematopoietic system 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); pigmentation phenotype; embryo phenotype; immune system phenotype

Gene ontology

• Biological process: gastrulation with mouth forming second;ectoderm development;negative regulation of cell population proliferation;IRE1-mediated unfolded protein response;negative regulation of cell cycle;positive regulation of transcription by RNA polymerase II;positive regulation of cell cycle arrest
• Cellular component: nucleoplasm;protein-containing complex;protein-DNA complex
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;core promoter binding;transcription coactivator binding;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;transcription factor binding;metal ion binding