AutismKB 2.0

Annotation Detail for OPTC


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Basic Information Top
Gene Symbol:OPTC ( OPT )
Gene Full Name: opticin
Band: 1q32.1
Quick LinksEntrez ID:26254; OMIM: 605127; Uniprot ID:OPT_HUMAN; ENSEMBL ID: ENSG00000188770; HGNC ID: 8158
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
71Sulfotyrosine (Potential).
312N-linked (GlcNAc...).
Location(AA) Modifications Resource
71Sulfotyrosine (Potential).Swiss-Prot 53.0
312N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
56Phosphotyrosine(EGFR)HMM predict
56Phosphotyrosine(Abl)HMM predict
56Phosphotyrosine(INSR)HMM predict
65Phosphotyrosine(EGFR)HMM predict
65Phosphotyrosine(INSR)HMM predict
65Phosphotyrosine(Syk)HMM predict
71SulfotyrosineHMM predict
90Phosphoserine(CDC2)HMM predict
95O-linkedHMM predict
96O-linkedHMM predict
96O-linkedHMM predict
100Phosphothreonine(CDK)HMM predict
100O-linkedHMM predict
100Phosphothreonine(MAPK)HMM predict
102O-linkedHMM predict
103Phosphoserine(IKK)HMM predict
103O-linkedHMM predict
104N-linkedHMM predict
106O-linkedHMM predict
111Phosphothreonine(PKA)HMM predict
112Phosphothreonine(PKA)HMM predict
119Phosphoserine(ATM)HMM predict
312N-linkedHMM predict
327ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014359
  • Location:chr1 201729893-201744699
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 201755123 201755731 608 10728
Fos K562GSE19551 201755029 201755573 544 10602
Nanog ESGSE20650 201754925 201755714 789 10620
Nanog hESGSE18292 201755011 201755467 456 10540
Oct4 hESGSE21916 201754900 201756003 1103 10752
P300 T30-glioblastomaGSE21026 201748117 201749346 1229 4032
Rb QuiescentGSE19898 201748504 201748887 383 3996
Sox2 hESGSE18292 201755051 201755464 413 10558
TFAP2C MCF7GSE21234 201753112 201753646 534 8680
TFAP2C MCF7GSE21234 201762190 201763289 1099 18040
p130 shRbQuiescentGSE19898 201748445 201749308 863 4177
p130 shRbSenescentGSE19898 201748469 201749599 1130 4335
p130 shRbSenescentGSE19898 201756266 201756573 307 11720
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 201740404 201740745 341 0
CTCF CD4SISSRdata 201740404 201740745 341 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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