ConVarT

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:	ENST00000354386, NP_001231118, NP_001316875, ENST00000555397, NP_001316872, ENST00000423743, NP_001231120, NP_001351629, ENST00000261244, ENST00000556134, NP_001316874, ENST00000555203, NP_001231122, NP_055564, ENST00000354386.6, NP_001231119, NP_001316876, ENST00000555833, NP_001316873, ENST00000554463, NP_001231121, NP_001351630
Statistics:	ClinVar(148)

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.
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 isoformButton ">ENST00000261244 You are here now!

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
PF15324	TALPID3	Hedgehog signalling target	116-1357			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
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