AutismKB 2.0

Annotation Detail for TRPV5


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Basic Information Top
Gene Symbol:TRPV5 ( CAT2,ECAC1,OTRPC3 )
Gene Full Name: transient receptor potential cation channel, subfamily V, member 5
Band: 7q34
Quick LinksEntrez ID:56302; OMIM: 606679; Uniprot ID:TRPV5_HUMAN; ENSEMBL ID: ENSG00000127412; HGNC ID: 3145
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
358N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
358N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
13Phosphoserine(ATM)HMM predict
59Phosphoserine(CK1)HMM predict
138Phosphothreonine(PKC)HMM predict
142Phosphoserine(PKA)HMM predict
142Phosphoserine(PKB)HMM predict
142Phosphoserine(CAMK2)HMM predict
142Phosphoserine(PKG)HMM predict
142Phosphoserine(PKC)HMM predict
144O-linkedHMM predict
208N-linkedHMM predict
311Phosphothreonine(CDC2)HMM predict
346S-palmitoylHMM predict
347S-palmitoylHMM predict
358N-linkedHMM predict
377Phosphotyrosine(Syk)HMM predict
379Phosphothreonine(PKC)HMM predict
526SulfotyrosineHMM predict
611S-palmitoylHMM predict
669Phosphoserine(IKK)HMM predict
693Phosphoserine(CAMK2)HMM predict
693Phosphoserine(IKK)HMM predict
693Phosphoserine(ATM)HMM predict
696Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019841
  • Location:chr7 142315769-142340941
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Sox2 hESGSE18292 142309200 142309625 425 6357
TFAP2C MCF7GSE21234 142305545 142306201 656 9897
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 142316929 142317148 219 0
CTCF CD4SISSRdata 142316929 142317148 219 0
CTCF G2GSE9613 142316439 142317058 619 0
CTCF G2GSE9613 142332433 142332994 561 0
CTCF G2GSE9613 142335016 142335390 374 0
Myc K562GSE19551 142332610 142333062 452 0
Myc hESGSE17917 142327070 142327268 198 0
Oct1 HelaGSE14283 142330797 142330830 33 0
Oct1 HelaGSE14283 142331322 142331382 60 0
hScc1 BcellGSE12603 142316621 142316949 328 0
hScc1 BcellGSE12603 142337073 142337302 229 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