AutismKB 2.0

Annotation Detail for JOSD1


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Basic Information Top
Gene Symbol:JOSD1 ( KIAA0063,dJ508I15.2 )
Gene Full Name: Josephin domain containing 1
Band: 22q13.1
Quick LinksEntrez ID:9929; OMIM: NA; Uniprot ID:JOS1_HUMAN; ENSEMBL ID: ENSG00000100221; HGNC ID: 28953
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
13Phosphoserine(CK2)HMM predict
70Phosphothreonine(CDC2)HMM predict
82Phosphotyrosine(INSR)HMM predict
200ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014876
  • Location:chr22 37411572-37426214
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 37426525 37427394 869 745
H3ac HepG2E 37427476 37427794 318 1421
PHF8 HeLaGSE20725 37426035 37427665 1630 636
Rb QuiescentGSE19898 37426533 37426762 229 433
Rb SenescentGSE19898 37426888 37427093 205 776
TFAP2C MCF7GSE21234 37427246 37427860 614 1339
hScc1 BcellGSE12603 37426602 37427089 487 631
hScc1 CdLSGSE12603 37426291 37427182 891 522
p130 QuiescentGSE19898 37427310 37427486 176 1184
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 37422724 37423039 315 0
H3K4me2 HCT116GSE10453 37423954 37424303 349 0
H3K4me2 HCT116GSE10453 37425176 37425759 583 0
H3K4me3 colorectalcancer 37423954 37424631 677 0
H3K4me3 colorectalcancer 37425352 37425873 521 0
H3ac HepG2E 37423954 37424672 718 0
H3ac HepG2E 37425176 37426423 1247 0
hScc1 BcellGSE12603 37412179 37412477 298 0
hScc1 BcellGSE12603 37425176 37425352 176 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