KIAA0586 (GeneID: 9786) | Homo sapiens
Description: KIAA0586 [Source:HGNC Symbol;Acc:HGNC:19960]
Synonyms: JBTS23, Talpid3, SRTD14
Other ID(s): ENSG00000100578, HGNC:19960
Protein Accession Numbers: NP_001231118, NP_001316875, ENST00000354386, NP_001316872, ENST00000555397, NP_001231120, NP_001351629, ENST00000423743, ENST00000556134, NP_001316874, ENST00000261244, NP_001231122, NP_055564, ENST00000555203, NP_001231119, NP_001316876, ENST00000354386.6, ENST00000555833, NP_001316873, NP_001231121, NP_001351630, ENST00000554463
Statistics: ClinVar(146) gnomAD(1286) COSMIC(365) PTM(51)
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.
ENST00000261244 You are here now! ENST00000354386 ENST00000423743 ENST00000554463 ENST00000555203 ENST00000555397 ENST00000555833 ENST00000556134 NP_001231118 NP_001231119 NP_001231120 NP_001231121 NP_001231122 NP_001316872 NP_001316873 NP_001316874 NP_001316875 NP_001316876 NP_001351629 NP_001351630 NP_055564 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
PF15324 TALPID3 Hedgehog signalling target 101-1342 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Hydrocephalus Nervous System Diseases ; 0.659 0.517
Majewski Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Saldino-Noonan Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Short Rib-Polydactyly Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Craniofacial Abnormalities Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Familial aplasia of the vermis Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.659 0.517
JOUBERT SYNDROME 23 N/A 0.659 0.517
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.659 0.517
Joubert syndrome with Jeune asphyxiating thoracic dystrophy N/A 0.659 0.517
NO RESULT FOUND
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