AutismKB 2.0

Annotation Detail for KIAA0319


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Basic Information Top
Gene Symbol:KIAA0319 ( DLX2,DYLX2,DYX2,MGC176717 )
Gene Full Name: KIAA0319
Band: 6p22.3
Quick LinksEntrez ID:9856; OMIM: 609269; Uniprot ID:K0319_HUMAN; ENSEMBL ID: ENSG00000137261; HGNC ID: 21580
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
196N-linked (GlcNAc...) (Potential).
219N-linked (GlcNAc...) (Potential).
262N-linked (GlcNAc...) (Potential).
394N-linked (GlcNAc...) (Potential).
421N-linked (GlcNAc...) (Potential).
498N-linked (GlcNAc...) (Potential).
513N-linked (GlcNAc...) (Potential).
536N-linked (GlcNAc...) (Potential).
551N-linked (GlcNAc...) (Potential).
733N-linked (GlcNAc...) (Potential).
998Endocytosis signal.
Location(AA) Modifications Resource
196N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
219N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
262N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
394N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
421N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
498N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
513N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
536N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
551N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
733N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
31Phosphotyrosine(INSR)HMM predict
116SulfotyrosineHMM predict
125Phosphoserine(CDC2)HMM predict
154Phosphoserine(CK1)HMM predict
160Phosphotyrosine(INSR)HMM predict
160Phosphotyrosine(EGFR)HMM predict
160Phosphotyrosine(Syk)HMM predict
160SulfotyrosineHMM predict
202Phosphoserine(CDC2)HMM predict
219N-linkedHMM predict
224Phosphothreonine(CDC2)HMM predict
241Phosphothreonine(CDC2)HMM predict
241Phosphothreonine(CDK)HMM predict
262N-linkedHMM predict
263Phosphoserine(CDC2)HMM predict
264Phosphoserine(CK1)HMM predict
283Phosphoserine(CK1)HMM predict
294O-linkedHMM predict
296O-linkedHMM predict
296Phosphothreonine(MAPK)HMM predict
303O-linkedHMM predict
303Phosphoserine(IKK)HMM predict
306Phosphothreonine(CDK)HMM predict
306PhosphothreonineHMM predict
306O-linkedHMM predict
309O-linkedHMM predict
310O-linkedHMM predict
314O-linkedHMM predict
314Phosphoserine(IKK)HMM predict
317Phosphothreonine(CDK)HMM predict
317Phosphothreonine(MAPK)HMM predict
319O-linkedHMM predict
324Phosphoserine(CDC2)HMM predict
324O-linkedHMM predict
326O-linkedHMM predict
331Phosphothreonine(PKC)HMM predict
392Phosphothreonine(PKA)HMM predict
421N-linkedHMM predict
457Phosphoserine(ATM)HMM predict
460Phosphothreonine(CK2)HMM predict
483Phosphoserine(IKK)HMM predict
513N-linkedHMM predict
515O-linkedHMM predict
536N-linkedHMM predict
551N-linkedHMM predict
595SulfotyrosineHMM predict
605O-linkedHMM predict
609Phosphoserine(PKG)HMM predict
648Phosphoserine(CK2)HMM predict
650Phosphoserine(ATM)HMM predict
705O-linkedHMM predict
706O-linkedHMM predict
715N-linkedHMM predict
716N-linkedHMM predict
717Phosphoserine(CDC2)HMM predict
720MethylarginineHMM predict
722MethylarginineHMM predict
733N-linkedHMM predict
734N-linkedHMM predict
744Phosphothreonine(CK2)HMM predict
773Phosphoserine(IKK)HMM predict
793O-linkedHMM predict
795Phosphoserine(IKK)HMM predict
795Phosphoserine(ATM)HMM predict
836Phosphothreonine(PKA)HMM predict
894Phosphoserine(PKG)HMM predict
977S-palmitoylHMM predict
980S-palmitoylHMM predict
981S-palmitoylHMM predict
1020Phosphothreonine(PKA)HMM predict
1056N-linkedHMM predict
1061N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014809
  • Location:chr6 24652310-24754361
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 24649374 24649415 41 2916
ER Fulvestrant-MCF7GSE14664 24649379 24649418 39 2912
Oct1 H2O2-HelaGSE14283 24649380 24649418 38 2912
Oct1 HelaGSE14283 24649376 24649419 43 2913
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 24702407 24702619 212 0
CTCF CD4GSE12889 24655570 24655712 142 0
CTCF CD4SISSRdata 24655570 24655712 142 0
CTCF G2GSE9613 24689130 24689936 806 0
CTCF G2GSE9613 24691378 24692321 943 0
CTCF G2GSE9613 24706320 24706502 182 0
CTCF G2GSE9613 24707482 24707955 473 0
CTCF G2GSE9613 24709080 24709408 328 0
CTCF G2GSE9613 24753934 24754417 483 0
ER MCF7GSE19013 24694047 24694788 741 0
Myc K562GSE19551 24689263 24689661 398 0
Oct1 HelaGSE14283 24661762 24661789 27 0
Oct1 HelaGSE14283 24745248 24745276 28 0
RARA MCF7GSE15244 24689057 24689726 669 0
RARA MCF7GSE15244 24707113 24707762 649 0
TFAP2C MCF7GSE21234 24683077 24683489 412 0
hScc1 BcellGSE12603 24677996 24678323 327 0
hScc1 BcellGSE12603 24691579 24691988 409 0
hScc1 BcellGSE12603 24753861 24754650 789 0
hScc1 CdLSGSE12603 24689093 24689801 708 0
hScc1 CdLSGSE12603 24691579 24692104 525 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


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