MYB

MYB proto-oncogene, transcription factor, the group of Myb/SANT domain containing

Basic information

Region (hg38): 6:135181308-135219173

Links

ENSG00000118513 ∙ NCBI:4602 ∙ OMIM:189990 ∙ HGNC:7545 ∙ Uniprot:P10242 ∙ 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 MYB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYB 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				5	5	10
missense			25	3	3	31
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding						0
Total	0	0	26	8	8

Variants in MYB

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

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

Position	Type	Phenotype	Significance	ClinVar
6-135181525-A-C		not specified	Uncertain significance (Jul 09, 2021)
6-135189777-CTTTA-C			Benign (Sep 19, 2018)
6-135190150-C-T		MYB-related disorder	Likely benign (Mar 15, 2019)
6-135192327-TG-T		MYB-related disorder	Uncertain significance (May 02, 2023)
6-135192329-A-G			Uncertain significance (Apr 01, 2023)
6-135192443-A-G		not specified	Uncertain significance (Dec 21, 2023)
6-135192546-T-C			Benign (Dec 31, 2019)
6-135193853-C-G		not specified	Uncertain significance (Mar 28, 2024)
6-135193907-G-A		not specified	Uncertain significance (Mar 02, 2023)
6-135194427-C-T		MYB-related disorder	Benign (Aug 16, 2018)
6-135195765-C-G		not specified	Uncertain significance (Aug 28, 2023)
6-135195806-C-T			Benign (Oct 10, 2018)
6-135195882-T-G		MYB-related disorder	Likely benign (Nov 13, 2019)
6-135195921-C-T			Benign (Dec 31, 2019)
6-135196970-T-C			Benign (Dec 31, 2019)
6-135196999-C-A		not specified	Uncertain significance (May 05, 2023)
6-135197060-C-A		not specified	Uncertain significance (Jun 22, 2021)
6-135197122-G-A		not specified	Uncertain significance (Dec 21, 2023)
6-135197229-C-A		not specified	Uncertain significance (Feb 07, 2023)
6-135197252-A-C		not specified	Likely benign (Nov 09, 2023)
6-135198935-A-G		not specified	Uncertain significance (Sep 26, 2023)
6-135198956-T-C		not specified	Uncertain significance (Dec 19, 2022)
6-135198969-C-A			Benign (Jul 20, 2018)
6-135198972-C-A		not specified	Uncertain significance (Dec 06, 2021)
6-135198974-C-G		not specified	Uncertain significance (Oct 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYB	protein_coding	protein_coding	ENST00000341911	16	37859

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.819	0.181	125736	0	11	125747	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.51	270	413	0.653	0.0000216	5003
Missense in Polyphen		80	158.58	0.50448		1967
Synonymous	0.834	139	152	0.914	0.00000859	1433
Loss of Function	4.76	8	40.9	0.196	0.00000214	473

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000441	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.0000678	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);miR-targeted genes in lymphocytes - TarBase;Neural Crest Differentiation;Hematopoietic Stem Cell Differentiation;EV release from cardiac cells and their functional effects;Pathways Affected in Adenoid Cystic Carcinoma;Transcriptional regulation by RUNX1;PI3K-Akt Signaling Pathway;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;Prolactin;Factors involved in megakaryocyte development and platelet production;RNA Polymerase II Transcription;Hemostasis;Signaling by Nuclear Receptors;C-MYB transcription factor network;Estrogen-dependent gene expression;RUNX1 regulates transcription of genes involved in differentiation of HSCs;ESR-mediated signaling;Notch-mediated HES/HEY network;Transcriptional regulation by RUNX1;AP-1 transcription factor network;IL2 signaling events mediated by PI3K;IL4-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.777

Intolerance Scores

• loftool: 0.753
• rvis_EVS: 0.09
• rvis_percentile_EVS: 60.57

Haploinsufficiency Scores

• pHI: 0.932
• hipred: Y
• hipred_score: 0.756
• ghis: 0.480

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: N
• gene_indispensability_score: 0.189

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myb
• 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); normal 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; liver/biliary system phenotype; immune system 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); growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: myb
• Affected structure: lymphoid progenitor cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;mitotic cell cycle;response to hypoxia;chromatin remodeling;regulation of transcription, DNA-templated;positive regulation of collagen biosynthetic process;positive regulation of neuron apoptotic process;positive regulation of T-helper cell differentiation;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;positive regulation of smooth muscle cell proliferation;positive regulation of histone H3-K4 methylation;positive regulation of histone H3-K9 methylation;positive regulation of glial cell proliferation;cellular response to hydrogen peroxide;cellular response to retinoic acid;positive regulation of transforming growth factor beta production;regulation of hematopoietic stem cell differentiation;positive regulation of hepatic stellate cell proliferation;positive regulation of hepatic stellate cell activation;positive regulation of testosterone secretion
• Cellular component: nucleoplasm;nuclear matrix
• 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;protein binding