ConVarT

LYL1 (GeneID: 4066) | Homo sapiens

Description:	LYL1, basic helix-loop-helix family member [Source:HGNC Symbol;Acc:HGNC:6734]
Synonyms:	bHLHa18
Other ID(s):	HGNC:6734, ENSG00000104903
Protein Accession Numbers:	ENST00000264824, NP_005574, ENST00000590974
Statistics:	gnomAD(52)

gnomAD Variants By Annotation

Missense Variant

Start Lost

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000264824 ENST00000590974 NP_005574

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Missense Variant

Start Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
19-13211506-C-G	ENST00000590974	p.Arg57Pro	Missense Variant	0	0	0	rs759121048
19-13211506-C-T	ENST00000590974	p.Arg57Gln	Missense Variant	0	0	0	rs759121048
19-13211507-G-A	ENST00000590974	p.Arg57Trp	Missense Variant	0	0	0	rs1469346959
19-13211508-C-T	ENST00000590974	p.Lys56Lys	Synonymous Variant	141	31402	0.00449	rs142687463
19-13211515-C-T	ENST00000590974	p.Arg54Gln	Missense Variant	0	0	0	rs144851024
19-13211516-G-A	ENST00000590974	p.Arg54Trp	Missense Variant	0	0	0	rs763978229
19-13211516-G-C	ENST00000590974	p.Arg54Gly	Missense Variant	1	31388	0.000032	rs763978229
19-13211516-G-T	ENST00000590974	p.Arg54Arg	Synonymous Variant	0	0	0	rs763978229
19-13211517-G-A	ENST00000590974	p.Ser53Ser	Synonymous Variant	0	0	0	rs1194268375
19-13211521-C-T	ENST00000590974	p.Ser52Asn	Missense Variant	53	31392	0.001688	rs112549109
19-13211522-T-G	ENST00000590974	p.Ser52Arg	Missense Variant	0	0	0	rs757239284
19-13211525-G-A	ENST00000590974	p.Pro51Ser	Missense Variant	0	0	0	rs767520242
19-13211531-T-A	ENST00000590974	p.Ile49Phe	Missense Variant	0	0	0	rs750420950
19-13211540-G-A	ENST00000590974	p.Pro46Ser	Missense Variant	0	0	0	rs1462984804
19-13211542-C-A	ENST00000590974	p.Gly45Val	Missense Variant	0	0	0	rs756230314
19-13211546-C-G	ENST00000590974	p.Ala44Pro	Missense Variant	0	0	0	rs780073041
19-13211554-A-G	ENST00000590974	p.Ile41Thr	Missense Variant	1	31402	0.000032	rs201509972
19-13211555-T-A	ENST00000590974	p.Ile41Phe	Missense Variant	0	0	0	rs1382577578
19-13211557-T-C	ENST00000590974	p.Tyr40Cys	Missense Variant	0	0	0	rs749503930
19-13211561-C-T	ENST00000590974	p.Val39Ile	Missense Variant	0	0	0	rs755248484

Showing 1 to 20 of 52 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00010	HLH	Helix-loop-helix DNA-binding domain	150-202			Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Lymphoid leukemia	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.72	0.138
Leukemia, Myelocytic, Acute	Neoplasms ;	0.72	0.138
Acute Myeloid Leukemia, M1	Neoplasms ;	0.72	0.138
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.72	0.138
Hematopoetic Myelodysplasia	Hemic and Lymphatic Diseases ;	0.72	0.138
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.72	0.138
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data