ZBTB49

zinc finger and BTB domain containing 49, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 4:4290250-4321786

Previous symbols: [ "ZNF509" ]

Links

ENSG00000168826 ∙ NCBI:166793 ∙ OMIM:616238 ∙ HGNC:19883 ∙ Uniprot:Q6ZSB9 ∙ 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 ZBTB49 gene.

• Inborn genetic diseases (20 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB49 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				1	1	2
missense			20		2	22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	3

Variants in ZBTB49

This is a list of pathogenic ClinVar variants found in the ZBTB49 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-4299949-G-A		not specified	Uncertain significance (Nov 01, 2022)
4-4301994-T-A		not specified	Uncertain significance (Oct 06, 2021)
4-4302081-T-C		not specified	Uncertain significance (Nov 14, 2023)
4-4302133-C-T			Likely benign (Nov 03, 2017)
4-4302182-T-G		not specified	Uncertain significance (Jul 26, 2022)
4-4302212-C-T		not specified	Uncertain significance (Jul 20, 2022)
4-4302282-G-A		not specified	Likely benign (Mar 07, 2024)
4-4302474-A-G		not specified	Uncertain significance (Aug 23, 2021)
4-4302518-G-A		not specified	Uncertain significance (Jan 18, 2023)
4-4302665-C-G		not specified	Uncertain significance (Feb 27, 2023)
4-4302742-G-C		not specified	Uncertain significance (Aug 16, 2022)
4-4302936-T-G		not specified	Uncertain significance (Jan 19, 2024)
4-4302942-G-T		not specified	Uncertain significance (Nov 30, 2022)
4-4302965-G-A		not specified	Uncertain significance (Dec 28, 2023)
4-4302977-G-A		not specified	Uncertain significance (Jun 29, 2023)
4-4303005-A-G		not specified	Uncertain significance (Nov 08, 2022)
4-4303022-G-A			Benign (Nov 03, 2017)
4-4303023-C-T		not specified	Uncertain significance (Sep 16, 2021)
4-4303036-C-T			Benign (Apr 04, 2018)
4-4313083-A-G		not specified	Uncertain significance (Jan 23, 2024)
4-4320646-G-C		not specified	Uncertain significance (May 09, 2022)
4-4320702-C-G		not specified	Uncertain significance (Aug 26, 2022)
4-4320745-C-T		not specified	Uncertain significance (Feb 23, 2023)
4-4320756-C-T		not specified	Uncertain significance (Jan 24, 2024)
4-4320857-C-G		not specified	Uncertain significance (Mar 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB49	protein_coding	protein_coding	ENST00000337872	7	31590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.38e-8	0.948	125706	0	42	125748	0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.663	399	438	0.911	0.0000246	5083
Missense in Polyphen		94	142.89	0.65784		1647
Synonymous	-0.00890	176	176	1.00	0.0000110	1438
Loss of Function	1.96	17	28.3	0.602	0.00000152	325

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000384	0.000384
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.000326	0.000326
Finnish	0.0000476	0.0000462
European (Non-Finnish)	0.000168	0.000158
Middle Eastern	0.000326	0.000326
South Asian	0.000135	0.000131
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor. Inhibits cell proliferation by activating either CDKN1A/p21 transcription or RB1 transcription. {ECO:0000269|PubMed:25245946}.; FUNCTION: Isoform 3: Activates RB1 transcription most probably by antagonizing ZBTB17 repression of RB1. Does not bind directly RB1 promoter. {ECO:0000269|PubMed:25245946}.

Intolerance Scores

• loftool: 0.605
• rvis_EVS: 1.09
• rvis_percentile_EVS: 91.91

Haploinsufficiency Scores

• pHI: 0.131
• hipred: N
• hipred_score: 0.447
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb49

Gene ontology

• Biological process: cell cycle arrest;negative regulation of cell population proliferation;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;microtubule cytoskeleton
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;transcription coactivator binding;protein binding;transcription factor binding;sequence-specific DNA binding;metal ion binding