AutismKB 2.0

Annotation Detail for KIAA1683


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KIAA1683 ( MGC131731 )
Gene Full Name: KIAA1683
Band: 19p13.11
Quick LinksEntrez ID:80726; OMIM: NA; Uniprot ID:K1683_HUMAN; ENSEMBL ID: ENSG00000130518; HGNC ID: 29350
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
302Phosphotyrosine.
307Phosphothreonine.
314Phosphothreonine.
367Phosphoserine.
Location(AA) Modifications Resource
367Phosphoserine.Swiss-Prot 53.0
367PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
22Phosphothreonine(PKC)HMM predict
260S-palmitoylHMM predict
296Phosphothreonine(MAPK)HMM predict
296Phosphothreonine(CDK)HMM predict
310O-linkedHMM predict
310Phosphoserine(PKA)HMM predict
314Phosphothreonine(PKC)HMM predict
322Phosphothreonine(MAPK)HMM predict
347O-linkedHMM predict
357O-linkedHMM predict
358O-linkedHMM predict
360O-linkedHMM predict
361O-linkedHMM predict
362Phosphothreonine(MAPK)HMM predict
362Phosphothreonine(CDK)HMM predict
367O-linkedHMM predict
367Phosphoserine(CDK)HMM predict
367Phosphoserine(CDC2)HMM predict
388O-linkedHMM predict
390O-linkedHMM predict
410O-linkedHMM predict
410O-linkedHMM predict
414Phosphothreonine(CDK)HMM predict
414Phosphothreonine(MAPK)HMM predict
418O-linkedHMM predict
418O-linkedHMM predict
462Phosphothreonine(CDK)HMM predict
462PhosphothreonineHMM predict
477Phosphoserine(IKK)HMM predict
481Phosphoserine(IKK)HMM predict
481Phosphoserine(ATM)HMM predict
484Phosphoserine(CDC2)HMM predict
484Phosphoserine(IKK)HMM predict
492Phosphoserine(CDC2)HMM predict
492Phosphoserine(CDK)HMM predict
522Phosphoserine(CDC2)HMM predict
522Phosphoserine(MAPK)HMM predict
540Phosphothreonine(MAPK)HMM predict
542N-linkedHMM predict
648Phosphotyrosine(SRC)HMM predict
648Phosphotyrosine(Abl)HMM predict
648Phosphotyrosine(Syk)HMM predict
668N-linkedHMM predict
671Phosphoserine(ATM)HMM predict
692Phosphoserine(ATM)HMM predict
698O-linkedHMM predict
718Phosphoserine(ATM)HMM predict
767Phosphoserine(CK1)HMM predict
860Phosphoserine(IKK)HMM predict
912Phosphoserine(PKG)HMM predict
976O-linkedHMM predict
988Phosphothreonine(PKC)HMM predict
1027Phosphothreonine(PKC)HMM predict
1036Phosphoserine(CDK)HMM predict
1047Phosphoserine(IKK)HMM predict
1054Phosphoserine(CDC2)HMM predict
1078Phosphothreonine(PKA)HMM predict
1098O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_025249
  • Location:chr19 18228908-18246234
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 18246842 18247034 192 704
Fos K562GSE19551 18246406 18247152 746 545
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 18223556 18223896 340 5183
CTCF CD4SISSRdata 18223556 18223896 340 5183
CTCF HelaGSE12889 18223672 18223905 233 5120
CTCF JurkatGSE12889 18223667 18223914 247 5118
CTCF G2GSE9613 18223614 18223827 213 5188
CTCF G2GSE9613 18227255 18227631 376 1466
Myc K562GSE19551 18223582 18223899 317 5168
NRSF mAbJurkat 18217278 18217611 333 11464
Nanog hESGSE18292 18223645 18223862 217 5155
TFAP2C MCF7GSE21234 18219900 18220471 571 8723
hScc1 BcellGSE12603 18223614 18223981 367 5111
hScc1 CdLSGSE12603 18223614 18224194 580 5005
hScc1 G2GSE9613 18223614 18223899 285 5152
p130 shRbSenescentGSE19898 18223613 18223776 163 5214
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 18244311 18244459 148 0
CTCF CD4SISSRdata 18244311 18244459 148 0
CTCF JurkatGSE12889 18244268 18244423 155 0
CTCF G2GSE9613 18229003 18229682 679 0
NRSF mAbJurkat 18233039 18234185 1146 0
hScc1 BcellGSE12603 18228940 18229801 861 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