ZBTB37

zinc finger and BTB domain containing 37, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 1:173868081-173903547

Links

ENSG00000185278 ∙ NCBI:84614 ∙ ∙ HGNC:28365 ∙ Uniprot:Q5TC79 ∙ 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 ZBTB37 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB37 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			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	0

Variants in ZBTB37

This is a list of pathogenic ClinVar variants found in the ZBTB37 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-173870416-A-G		not specified	Uncertain significance (Oct 05, 2023)
1-173870419-A-G		not specified	Uncertain significance (Feb 22, 2023)
1-173870575-A-G		not specified	Uncertain significance (Sep 13, 2023)
1-173870616-G-A		not specified	Uncertain significance (Dec 15, 2023)
1-173870640-A-T		not specified	Uncertain significance (Jul 12, 2022)
1-173870692-C-G		not specified	Uncertain significance (Jan 16, 2024)
1-173870706-C-G		not specified	Uncertain significance (Oct 12, 2022)
1-173870760-A-G		not specified	Uncertain significance (Dec 06, 2022)
1-173870763-G-A		not specified	Uncertain significance (Jul 14, 2023)
1-173870863-G-A		not specified	Uncertain significance (Sep 12, 2023)
1-173870881-A-G		not specified	Uncertain significance (Nov 15, 2021)
1-173870932-A-G		not specified	Uncertain significance (May 10, 2024)
1-173871001-A-G		not specified	Uncertain significance (Jan 23, 2023)
1-173871111-G-C		not specified	Uncertain significance (Apr 28, 2022)
1-173871112-C-G		not specified	Uncertain significance (Jun 07, 2023)
1-173871116-G-C		not specified	Uncertain significance (Nov 12, 2021)
1-173871124-G-A		not specified	Uncertain significance (Aug 09, 2021)
1-173873486-G-C		not specified	Uncertain significance (Jun 24, 2022)
1-173873546-C-T		not specified	Uncertain significance (Jun 18, 2021)
1-173885706-G-A		not specified	Uncertain significance (Mar 15, 2024)
1-173885738-A-G		not specified	Uncertain significance (Jan 23, 2024)
1-173885747-G-A		not specified	Uncertain significance (Apr 25, 2022)
1-173885753-T-A		not specified	Uncertain significance (Jun 09, 2022)
1-173885823-G-T		not specified	Uncertain significance (Aug 13, 2021)
1-173885949-A-G		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB37	protein_coding	protein_coding	ENST00000367701	3	35468

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.955	0.0448	125744	0	4	125748	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.36	182	296	0.615	0.0000167	3305
Missense in Polyphen		14	83.207	0.16825		898
Synonymous	-0.328	103	98.9	1.04	0.00000460	1014
Loss of Function	3.56	2	18.5	0.108	0.00000121	195

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)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Intolerance Scores

• loftool: 0.403
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.09

Haploinsufficiency Scores

• pHI: 0.131
• hipred: Y
• hipred_score: 0.654
• ghis: 0.499

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.918

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb37

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding