ConVarT

sei (GeneID: 37843) | Drosophila melanogaster

Description:	seizure [Source:FlyBase;Acc:FBgn0003353]
Synonyms:	Dmel_CG3182, CG3182, Dmel\CG3182, erg, Derg
Other ID(s):	FBgn0003353
Protein Accession Numbers:	NP_001286814, NP_726408, NP_476713
Statistics:	ClinVar(1072) gnomAD(703) COSMIC(325)

ClinVar Pathogenicity of Variations

∙ 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.
ENST00000262186 ENST00000330883 ENST00000392968 ENST00000430723 You are here now! NP_000229 NP_001191727 NP_742053 You are here now! NP_742054

ClinVar Data

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

gnomAD

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter

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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Cardiac Arrhythmia	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.543	0.586
Malignant Neoplasms	Neoplasms ;	0.543	0.586
Malignant tumor of colon	Neoplasms ; Digestive System Diseases ;	0.543	0.586
Neoplastic Cell Transformation	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.543	0.586
Colonic Neoplasms	Neoplasms ; Digestive System Diseases ;	0.543	0.586
Long QT Syndrome	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ;	0.543	0.586
Muscular Atrophy	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.543	0.586
Neoplasms	Neoplasms ;	0.543	0.586
Psychotic Disorders	Mental Disorders ;	0.543	0.586
Romano-Ward Syndrome	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ;	0.543	0.586
Schizophrenia	Mental Disorders ;	0.543	0.586
Torsades de Pointes	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.543	0.586
Benign Neoplasm	Neoplasms ;	0.543	0.586
Neurogenic Muscular Atrophy	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.543	0.586
Nonorganic psychosis	N/A	0.543	0.586
Brugada Syndrome (disorder)	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.543	0.586
Short QT Syndrome 1	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ;	0.543	0.586
Long Qt Syndrome 2	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ;	0.543	0.586
LONG QT SYNDROME 2/3, DIGENIC	N/A	0.543	0.586
LONG QT SYNDROME 1/2, DIGENIC (disorder)	N/A	0.543	0.586
LONG QT SYNDROME 2/5, DIGENIC (disorder)	N/A	0.543	0.586
LONG QT SYNDROME 2/9, DIGENIC	N/A	0.543	0.586
LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO	N/A	0.543	0.586
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data