INPP5E (GeneID: 56623) | Homo sapiens
Description: inositol polyphosphate-5-phosphatase E [Source:HGNC Symbol;Acc:HGNC:21474]
Synonyms: MORMS, CORS1, PI5PIV, JBTS1, pharbin, CPD4
Other ID(s): ENSG00000148384, HGNC:21474
Protein Accession Numbers: NP_063945, ENST00000371712, NP_001305431, ENST00000371712.3
Statistics: ClinVar(253) COSMIC(155) PTM(19)
ClinVar Pathogenicity of Variations help

∙ 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.
ENST00000371712 You are here now! NP_001305431 NP_063945 You are here now!


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
PF03372 Exo_endo_phos Endonuclease/Exonuclease/phosphatase family 304-584 CL0530 DNase_I-like Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Ciliary Motility Disorders Respiratory Tract Diseases ; Otorhinolaryngologic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.63 0.552
Congenital ocular coloboma (disorder) Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.63 0.552
Eye Diseases, Hereditary Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.63 0.552
Profound Mental Retardation Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.63 0.552
Mental Retardation, Psychosocial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.63 0.552
Obesity Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.63 0.552
Penile Diseases Male Urogenital Diseases ; 0.63 0.552
Disorders of Sex Development Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Endocrine System Diseases ; 0.63 0.552
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.63 0.552
Familial aplasia of the vermis Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.63 0.552
Mental deficiency Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.63 0.552
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.63 0.552
COACH syndrome Digestive System Diseases ; Nervous System Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.63 0.552
MORM syndrome Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.63 0.552
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.63 0.552
Joubert syndrome with ocular defect N/A 0.63 0.552
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.63 0.552
NO RESULT FOUND
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