AutismKB 2.0

Annotation Detail for TRPV3


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Basic Information Top
Gene Symbol:TRPV3 ( VRL3 )
Gene Full Name: transient receptor potential cation channel, subfamily V, member 3
Band: 17p13.2
Quick LinksEntrez ID:162514; OMIM: 607066; Uniprot ID:TRPV3_HUMAN; ENSEMBL ID: ENSG00000167723; HGNC ID: 18084
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
374Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
35Phosphothreonine(MAPK)HMM predict
35PhosphothreonineHMM predict
35Phosphothreonine(CDK)HMM predict
53N-linkedHMM predict
85Phosphoserine(ATM)HMM predict
85Phosphoserine(CDK)HMM predict
96Phosphothreonine(MAPK)HMM predict
96Phosphothreonine(CDK)HMM predict
96Phosphothreonine(CDC2)HMM predict
102Phosphoserine(IKK)HMM predict
102Phosphoserine(CDK)HMM predict
102Phosphoserine(MAPK)HMM predict
102Phosphoserine(CDC2)HMM predict
213Phosphotyrosine(Syk)HMM predict
397O-linkedHMM predict
452N-linkedHMM predict
515Phosphoserine(IKK)HMM predict
518Phosphoserine(ATM)HMM predict
624Phosphoserine(CDK)HMM predict
683N-linkedHMM predict
770N-linkedHMM predict
771N-linkedHMM predict
772Phosphoserine(CK1)HMM predict
772Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_145068
  • Location:chr17 3363235-3408038
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 3409236 3409569 333 1364
NFkBII GM10847GSE19485 3407676 3409463 1787 531
NFkBII GM12878GSE19485 3407739 3409666 1927 664
TFAP2C MCF7GSE21234 3408523 3409394 871 920
VDR GM10861-stimGSE22484 3408185 3409527 1342 818
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 3357299 3357333 34 5920
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 3385627 3385787 160 0
CTCF CD4SISSRdata 3385627 3385787 160 0
CTCF G2GSE9613 3363643 3364016 373 0
CTCF G2GSE9613 3407711 3408213 502 0
ER E2-MCF7GSE14664 3388101 3388132 31 0
Fos K562GSE19551 3407742 3408203 461 0
Oct1 HelaGSE14283 3376747 3376786 39 0
P300 T0-glioblastomaGSE21026 3386851 3387445 594 0
RNAII Tamoxifen-MCF7GSE14664 3376743 3376780 37 0
hScc1 BcellGSE12603 3380554 3380707 153 0
hScc1 BcellGSE12603 3381905 3382243 338 0
hScc1 BcellGSE12603 3385586 3386095 509 0
hScc1 BcellGSE12603 3392969 3393636 667 0
hScc1 BcellGSE12603 3403020 3403754 734 0
hScc1 CdLSGSE12603 3385586 3386058 472 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