AutismKB 2.0

Annotation Detail for TYR


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TYR ( OCA1A,OCAIA,SHEP3 )
Gene Full Name: tyrosinase (oculocutaneous albinism IA)
Band: 11q14.3
Quick LinksEntrez ID:7299; OMIM: 606933; Uniprot ID:TYRO_HUMAN; ENSEMBL ID: ENSG00000077498; HGNC ID: 12442
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
86N-linked (GlcNAc...) (Potential).
111N-linked (GlcNAc...) (Potential).
161N-linked (GlcNAc...) (Potential).
230N-linked (GlcNAc...) (Potential).
337N-linked (GlcNAc...) (Potential).
371N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
86N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
111N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
161N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
230N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
337N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
371N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
15PhosphothreonineHMM predict
44Phosphoserine(IKK)HMM predict
86N-linkedHMM predict
111N-linkedHMM predict
156Phosphotyrosine(SRC)HMM predict
161N-linkedHMM predict
230N-linkedHMM predict
264Phosphoserine(MAPK)HMM predict
284PhosphoserineHMM predict
290N-linkedHMM predict
292Phosphothreonine(CDC2)HMM predict
309Phosphothreonine(CDK)HMM predict
327Phosphotyrosine(INSR)HMM predict
337N-linkedHMM predict
342N-linkedHMM predict
358Phosphoserine(ATM)HMM predict
358Phosphoserine(IKK)HMM predict
369Phosphotyrosine(INSR)HMM predict
371N-linkedHMM predict
425Phosphotyrosine(INSR)HMM predict
449SulfotyrosineHMM predict
463Phosphotyrosine(INSR)HMM predict
463SulfotyrosineHMM predict
500S-palmitoylHMM predict
521Phosphotyrosine(Syk)HMM predict
521Phosphotyrosine(INSR)HMM predict
521Phosphotyrosine(EGFR)HMM predict
523Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000372
  • Location:chr11 88550687-88668573
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 88532593 88532714 121 18034
ER Fulvestrant-MCF7GSE14664 88532578 88532630 52 18084
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 88680034 88680068 34 11478
ER E2-MCF7GSE14664 88680371 88680419 48 11822
ER E2-MCF7GSE14664 88681522 88681554 32 12965
Oct1 H2O2-HelaGSE14283 88674137 88674175 38 5583
Oct1 HelaGSE14283 88674138 88674175 37 5583
Oct1 HelaGSE14283 88674298 88674333 35 5742
Oct1 HelaGSE14283 88681521 88681557 36 12966
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 88563062 88563097 35 0
Nanog ESGSE20650 88553892 88554438 546 0
Nanog ESGSE20650 88593685 88594199 514 0
Oct1 H2O2-HelaGSE14283 88616903 88616935 32 0
Oct1 H2O2-HelaGSE14283 88640031 88640061 30 0
Oct1 H2O2-HelaGSE14283 88666759 88666792 33 0
Oct1 HelaGSE14283 88551851 88551882 31 0
Oct1 HelaGSE14283 88555997 88556032 35 0
Oct1 HelaGSE14283 88563064 88563146 82 0
Oct1 HelaGSE14283 88576124 88576166 42 0
Oct1 HelaGSE14283 88592911 88592946 35 0
Oct1 HelaGSE14283 88616893 88616943 50 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved