TTC21B (GeneID: 740725) | Pan troglodytes
Description: tetratricopeptide repeat domain 21B [Source:VGNC Symbol;Acc:VGNC:2896]
Synonyms:
Other ID(s): ENSPTRG00000012594
Protein Accession Numbers: XP_016804938, XP_016804935, XP_016804943, XP_016804940, XP_016804937, XP_016804945, XP_016804934, XP_016804942, XP_016804939, XP_016804936, XP_016804944, XP_009441902, XP_016804941
Statistics: ClinVar(224) gnomAD(1177) COSMIC(426) PTM(36)
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.
ENST00000243344 You are here now! ENST00000392695 ENST00000536175 NP_079029 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
PF13181 TPR_8 Tetratricopeptide repeat 722-755 CL0020 TPR Homo sapiens
PF13181 TPR_8 Tetratricopeptide repeat 790-822 CL0020 TPR Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Drug abuse Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
Drug habituation Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
Drug Use Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.696 0.379
Majewski Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.696 0.379
Organic Mental Disorders, Substance-Induced Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
Saldino-Noonan Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.696 0.379
Short Rib-Polydactyly Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.696 0.379
Substance Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
Substance Use Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.696 0.379
Substance-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
Jeune thoracic dystrophy Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.696 0.379
Substance abuse problem Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
Drug Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.696 0.379
NEPHRONOPHTHISIS 2 Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.696 0.379
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY N/A 0.696 0.379
NEPHRONOPHTHISIS 12 N/A 0.696 0.379
JOUBERT SYNDROME 11 N/A 0.696 0.379
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.696 0.379
Prescription Drug Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.696 0.379
NO RESULT FOUND
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