MYBL2

MYB proto-oncogene like 2, the group of Myb/SANT domain containing

Basic information

Region (hg38): 20:43667018-43716495

Links

ENSG00000101057 ∙ NCBI:4605 ∙ OMIM:601415 ∙ HGNC:7548 ∙ Uniprot:P10244 ∙ 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 MYBL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYBL2 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			32	2	4	38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	32	2	4

Variants in MYBL2

This is a list of pathogenic ClinVar variants found in the MYBL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-43667293-C-T		not specified	Uncertain significance (Jul 06, 2021)
20-43673807-G-A		not specified	Uncertain significance (May 17, 2023)
20-43673817-A-G		not specified	Uncertain significance (Sep 17, 2021)
20-43681786-C-T			Benign (Jul 31, 2018)
20-43682798-G-A		not specified	Uncertain significance (Sep 15, 2021)
20-43686858-G-A		not specified	Uncertain significance (Jun 29, 2023)
20-43686964-C-G		not specified	Uncertain significance (Apr 22, 2024)
20-43686992-G-T		not specified	Uncertain significance (May 08, 2024)
20-43687000-A-C		not specified	Uncertain significance (Jun 07, 2023)
20-43687017-G-T		not specified	Uncertain significance (Oct 10, 2023)
20-43692209-G-C		not specified	Uncertain significance (Apr 12, 2023)
20-43692228-G-A			Benign (Jul 31, 2018)
20-43692275-G-A		not specified	Uncertain significance (Nov 15, 2021)
20-43692308-A-G		not specified	Likely benign (Jan 31, 2024)
20-43699784-G-T			Benign (Jul 06, 2018)
20-43699796-A-G		not specified	Uncertain significance (Dec 20, 2023)
20-43699845-C-T		not specified	Uncertain significance (Apr 13, 2022)
20-43699880-G-A		not specified	Uncertain significance (Feb 26, 2024)
20-43699893-C-T		not specified	Uncertain significance (Mar 07, 2024)
20-43699950-C-T		not specified	Likely benign (May 30, 2023)
20-43700043-C-T		not specified	Uncertain significance (Jul 13, 2021)
20-43702560-A-G			Benign (Jul 31, 2018)
20-43702568-C-G		not specified	Uncertain significance (Oct 20, 2021)
20-43702692-G-A		not specified	Uncertain significance (Oct 06, 2021)
20-43702755-C-T		not specified	Uncertain significance (Jun 13, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYBL2	protein_coding	protein_coding	ENST00000217026	14	49383

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.122	0.878	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	325	415	0.783	0.0000250	4552
Missense in Polyphen		85	155.9	0.54522		1708
Synonymous	0.668	163	174	0.936	0.0000108	1390
Loss of Function	4.17	9	36.0	0.250	0.00000181	392

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000243	0.000242
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000269	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000655	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene. {ECO:0000269|PubMed:10770937}.
• Pathway: HTLV-I infection - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Mitotic G1-G1-S phases;Gastric Cancer Network 1;Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors;EGF-EGFR Signaling Pathway;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Polo-like kinase mediated events;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;G0 and Early G1;Mitotic G1-G1/S phases;G2/M Transition;Mitotic G2-G2/M phases;TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation;Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors;Cell Cycle;Cell Cycle, Mitotic;E2F transcription factor network (Consensus)

Recessive Scores

• pRec: 0.256

Intolerance Scores

• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.13

Haploinsufficiency Scores

• pHI: 0.975
• hipred: Y
• hipred_score: 0.859
• ghis: 0.580

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mybl2
• Phenotype: cellular phenotype; neoplasm; normal 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); hematopoietic system phenotype; embryo phenotype; immune system phenotype

Zebrafish Information Network

• Gene name: mybl2b
• Affected structure: head
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: mitotic cell cycle;regulation of transcription by RNA polymerase II;positive regulation of neuron apoptotic process;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;regulation of cell cycle;mitotic spindle assembly;cellular response to leukemia inhibitory factor
• Cellular component: nucleoplasm;Myb complex
• 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 transcription factor activity;protein binding