MYBL1

MYB proto-oncogene like 1, the group of Myb/SANT domain containing

Basic information

Region (hg38): 8:66562174-66614247

Links

ENSG00000185697 ∙ NCBI:4603 ∙ OMIM:159405 ∙ HGNC:7547 ∙ Uniprot:P10243 ∙ 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 MYBL1 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 MYBL1 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
missense			20	2		22
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	20	3	0

Variants in MYBL1

This is a list of pathogenic ClinVar variants found in the MYBL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-66566083-T-C		not specified	Uncertain significance (Mar 01, 2024)
8-66566141-T-C		not specified	Uncertain significance (Sep 28, 2021)
8-66566207-G-T		not specified	Uncertain significance (Aug 13, 2021)
8-66566232-T-A		not specified	Uncertain significance (Feb 22, 2023)
8-66566694-G-A		not specified	Uncertain significance (Aug 02, 2023)
8-66566700-T-C		not specified	Uncertain significance (Nov 27, 2023)
8-66566716-G-C		not specified	Uncertain significance (Dec 28, 2022)
8-66566721-C-G		not specified	Uncertain significance (Jun 14, 2023)
8-66572520-C-T		not specified	Uncertain significance (Oct 26, 2022)
8-66573385-T-C		not specified	Uncertain significance (Jun 29, 2022)
8-66573419-T-C		not specified	Uncertain significance (Feb 06, 2024)
8-66573469-A-G		not specified	Uncertain significance (Aug 03, 2022)
8-66573484-T-C		not specified	Uncertain significance (Oct 05, 2021)
8-66576041-G-A		not specified	Uncertain significance (Aug 12, 2021)
8-66576167-A-G		not specified	Uncertain significance (Sep 27, 2021)
8-66580140-A-G		not specified	Uncertain significance (Dec 06, 2022)
8-66580239-G-A		not specified	Uncertain significance (Jun 07, 2023)
8-66580260-T-A		not specified	Uncertain significance (Dec 06, 2022)
8-66580262-C-T		not specified	Uncertain significance (Mar 23, 2023)
8-66580273-A-G		not specified	Uncertain significance (Jun 06, 2023)
8-66592497-T-G		not specified	Uncertain significance (May 06, 2022)
8-66592542-T-C			Benign (Jul 19, 2018)
8-66593128-A-T			Likely benign (Jul 19, 2018)
8-66595680-C-T			Likely benign (Jan 01, 2023)
8-66597372-A-C		not specified	Uncertain significance (May 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYBL1	protein_coding	protein_coding	ENST00000522677	16	52073

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000156	124623	0	2	124625	0.00000802

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.13	240	352	0.681	0.0000168	4940
Missense in Polyphen		55	129.21	0.42565		1899
Synonymous	0.510	114	121	0.941	0.00000632	1336
Loss of Function	5.66	0	37.3	0.00	0.00000189	515

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)	0.0000272	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor that specifically recognizes the sequence 5'-YAAC[GT]G-3' (PubMed:8058310, PubMed:7987850). Acts as a master regulator of male meiosis by promoting expression of piRNAs: activates expression of both piRNA precursor RNAs and expression of protein-coding genes involved in piRNA metabolism (By similarity). The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity (By similarity). {ECO:0000250|UniProtKB:P51960, ECO:0000269|PubMed:7987850, ECO:0000269|PubMed:8058310}.
• Pathway: Preimplantation Embryo;Pathways Affected in Adenoid Cystic Carcinoma;IL4-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.196

Intolerance Scores

• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.34

Haploinsufficiency Scores

• pHI: 0.841
• hipred: Y
• hipred_score: 0.595
• ghis: 0.475

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.615

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mybl1
• Phenotype: immune system phenotype; hematopoietic system phenotype; normal phenotype; reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular 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

Gene ontology

• Biological process: mitotic cell cycle;male meiosis I;spermatogenesis;negative regulation of transposition;cell differentiation;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;piRNA biosynthetic process
• Cellular component: nucleus
• 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