TPH1 (GeneID: 7166) | Homo sapiens
Description: tryptophan hydroxylase 1 [Source:HGNC Symbol;Acc:HGNC:12008]
Synonyms: TPRH, TRPH
Other ID(s): HGNC:12008, ENSG00000129167
Protein Accession Numbers: ENST00000417164, NP_004170, ENST00000341556, ENST00000528338, ENST00000250018
Statistics: gnomAD(357) COSMIC(168)
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.
ENST00000250018 ENST00000341556 ENST00000417164 ENST00000528338 NP_004170


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
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alcoholic Intoxication, Chronic Chemically-Induced Disorders ; Mental Disorders ; 0.611 0.586
Bipolar Disorder Mental Disorders ; 0.611 0.586
Mental Depression Behavior and Behavior Mechanisms ; 0.611 0.586
Depressive disorder Mental Disorders ; 0.611 0.586
Pulmonary Hypertension Respiratory Tract Diseases ; 0.611 0.586
Kidney Neoplasm Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.611 0.586
Major depression, single episode N/A 0.611 0.586
Schizophrenia Mental Disorders ; 0.611 0.586
Unipolar Depression Mental Disorders ; 0.611 0.586
Severe major depression with psychotic features N/A 0.611 0.586
Mood Disorders Mental Disorders ; 0.611 0.586
Malignant neoplasm of kidney Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.611 0.586
Major Depressive Disorder Mental Disorders ; 0.611 0.586
NO RESULT FOUND
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