RELN (GeneID: 5649) | Homo sapiens
Description: reelin [Source:HGNC Symbol;Acc:HGNC:9957]
Synonyms: RL, ETL7, PRO1598, LIS2
Other ID(s): HGNC:9957, ENSG00000189056
Protein Accession Numbers: ENST00000343529, NP_005036, ENST00000428762, ENST00000429186, ENST00000424685, NP_774959, ENST00000428762.1
Statistics: gnomAD(2630) COSMIC(2867)
gnomAD Variants By Annotation

∙ 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.
ENST00000343529 ENST00000424685 ENST00000428762 ENST00000429186 NP_005036 NP_774959


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

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF02014 Reeler Reeler domain 41-171 CL0159 E-set Mus musculus
PF18720 EGF_Tenascin Tenascin EGF domain 3231-3260 CL0001 EGF Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.547 0.655
Ataxias, Hereditary Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.655
Autistic Disorder Mental Disorders ; 0.547 0.655
Bipolar Disorder Mental Disorders ; 0.547 0.655
Depression, Bipolar Mental Disorders ; 0.547 0.655
Cerebrovascular Disorders Nervous System Diseases ; Cardiovascular Diseases ; 0.547 0.655
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.547 0.655
Mental Depression Behavior and Behavior Mechanisms ; 0.547 0.655
Endogenous depression Mental Disorders ; 0.547 0.655
Involutional Depression Mental Disorders ; 0.547 0.655
Depressive disorder Mental Disorders ; 0.547 0.655
Manic Disorder Mental Disorders ; 0.547 0.655
Melancholia Mental Disorders ; 0.547 0.655
Schizophrenia Mental Disorders ; 0.547 0.655
Unipolar Depression Mental Disorders ; 0.547 0.655
Depressive Syndrome Mental Disorders ; 0.547 0.655
Cerebellar Hypoplasia Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ; 0.547 0.655
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.547 0.655
Depression, Neurotic Mental Disorders ; 0.547 0.655
Manic Mental Disorders ; 0.547 0.655
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.547 0.655
Mood Disorders Mental Disorders ; 0.547 0.655
Epileptic encephalopathy N/A 0.547 0.655
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.547 0.655
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.547 0.655
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.547 0.655
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.655
Major Depressive Disorder Mental Disorders ; 0.547 0.655
Autism Spectrum Disorders Mental Disorders ; 0.547 0.655
Involutional paraphrenia Mental Disorders ; 0.547 0.655
Psychosis, Involutional Mental Disorders ; 0.547 0.655
EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.547 0.655
Malformations of Cortical Development Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.655
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.547 0.655
EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 N/A 0.547 0.655
NO RESULT FOUND
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