MYCL

MYCL proto-oncogene, bHLH transcription factor, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 1:39895428-39902256

Previous symbols: [ "MYCL1" ]

Links

ENSG00000116990 ∙ NCBI:4610 ∙ OMIM:164850 ∙ HGNC:7555 ∙ Uniprot:P12524 ∙ 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 MYCL gene.

Variants pathogenicity by type

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

Variants in MYCL

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

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

Position	Type	Phenotype	Significance	ClinVar
1-39897409-T-C		not specified	Uncertain significance (Sep 01, 2021)
1-39897413-G-C		not specified	Uncertain significance (Dec 13, 2021)
1-39897418-C-T		not specified	Uncertain significance (Nov 30, 2022)
1-39897523-G-T		not specified	Uncertain significance (Oct 27, 2023)
1-39897539-T-C		not specified	Uncertain significance (May 18, 2023)
1-39897596-G-C		not specified	Uncertain significance (Apr 27, 2024)
1-39897649-A-G		not specified	Uncertain significance (Dec 06, 2022)
1-39897667-G-T		not specified	Uncertain significance (Nov 21, 2023)
1-39897691-G-T		not specified	Uncertain significance (Oct 29, 2021)
1-39897758-C-T		not specified	Uncertain significance (Sep 17, 2021)
1-39897852-G-C		not specified	Uncertain significance (Jan 31, 2024)
1-39897923-C-A		not specified	Uncertain significance (Jan 08, 2024)
1-39897939-C-A		not specified	Uncertain significance (Mar 18, 2024)
1-39897941-C-T		not specified	Uncertain significance (May 03, 2023)
1-39897958-A-G		not specified	Uncertain significance (Apr 22, 2024)
1-39900983-G-T		not specified	Uncertain significance (Apr 18, 2024)
1-39900984-G-A		not specified	Uncertain significance (Aug 02, 2021)
1-39901002-G-C		not specified	Uncertain significance (Oct 06, 2021)
1-39901035-T-G		not specified	Uncertain significance (Aug 10, 2021)
1-39901046-T-A		not specified	Uncertain significance (Mar 04, 2024)
1-39901089-C-A		not specified	Uncertain significance (Dec 12, 2023)
1-39901095-C-G		not specified	Uncertain significance (May 26, 2023)
1-39901199-G-A		not specified	Uncertain significance (Mar 07, 2024)
1-39901226-C-A		not specified	Uncertain significance (Sep 26, 2022)
1-39901824-G-A		not specified	Uncertain significance (May 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYCL	protein_coding	protein_coding	ENST00000397332	3	6831

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.116	0.879	125740	0	8	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	162	204	0.792	0.0000106	2506
Missense in Polyphen		45	72.41	0.62146		914
Synonymous	-0.0985	84	82.9	1.01	0.00000415	799
Loss of Function	2.44	4	13.8	0.291	8.46e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000121	0.000121
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.422

Intolerance Scores

• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.74

Haploinsufficiency Scores

• pHI: 0.513
• hipred: Y
• hipred_score: 0.527
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mycl
• 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; immune system phenotype

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;regulation of inner ear auditory receptor cell differentiation
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein dimerization activity