AutismKB 2.0

Annotation Detail for ABL1


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Basic Information Top
Gene Symbol:ABL1 ( ABL,JTK7,bcr/abl,c-ABL,p150,v-abl )
Gene Full Name: c-abl oncogene 1, non-receptor tyrosine kinase
Band: 9q34.12
Quick LinksEntrez ID:25; OMIM: 189980; Uniprot ID:ABL1_HUMAN; ENSEMBL ID: ENSG00000097007; HGNC ID: 76
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
50Phosphoserine.
185Phosphotyrosine.
226Phosphotyrosine; by autocatalysis.
253Phosphotyrosine.
257Phosphotyrosine.
264Phosphotyrosine.
392Phosphothreonine.
393Phosphotyrosine; by autocatalysis and
394Phosphothreonine.
405Kinase activation loop.
446Phosphoserine (By similarity).
469Phosphotyrosine.
569Phosphoserine.
609Nuclear localization signal (Potential).
613Phosphothreonine.
620Phosphoserine.
659Phosphoserine.
683Phosphoserine.
718Phosphoserine.
735Phosphothreonine.
781Phosphothreonine.
805Phosphoserine.
809Phosphoserine.
814Phosphothreonine.
844Phosphothreonine.
852Phosphothreonine.
855Phosphoserine.
917Phosphoserine.
919Phosphoserine.
936Phosphoserine.
949Phosphoserine.
977Phosphoserine.
Location(AA) Modifications Resource
134PhosphotyrosinePhospho.ELM 6.0
185Phosphotyrosine.Swiss-Prot 53.0
185PhosphotyrosinePhospho.ELM 6.0
204PhosphotyrosinePhospho.ELM 6.0
226PhosphotyrosinePhospho.ELM 6.0
226Phosphotyrosine (by autocatalysis).Swiss-Prot 53.0
245PhosphotyrosinePhospho.ELM 6.0
251PhosphotyrosinePhospho.ELM 6.0
253Phosphotyrosine.Swiss-Prot 53.0
257Phosphotyrosine.Swiss-Prot 53.0
264PhosphotyrosinePhospho.ELM 6.0
264Phosphotyrosine.Swiss-Prot 53.0
272PhosphotyrosinePhospho.ELM 6.0
276PhosphotyrosinePhospho.ELM 6.0
283PhosphotyrosinePhospho.ELM 6.0
393Phosphotyrosine (Abl;Src)Phospho.ELM 6.0
393Phosphotyrosine (by autocatalysis andSRC-type Tyr-kinases).Swiss-Prot 53.0
394Phosphothreonine.Swiss-Prot 53.0
394PhosphothreoninePhospho.ELM 6.0
446Phosphoserine (By similarity).Swiss-Prot 53.0
469Phosphotyrosine.Swiss-Prot 53.0
488PhosphotyrosinePhospho.ELM 6.0
569PhosphoserinePhospho.ELM 6.0
569Phosphoserine.Swiss-Prot 53.0
683Phosphoserine.Swiss-Prot 53.0
754PhosphothreoninePhospho.ELM 6.0
805Phosphoserine.Swiss-Prot 53.0
809Phosphoserine.Swiss-Prot 53.0
949Phosphoserine.Swiss-Prot 53.0
949PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
18Phosphoserine(CK2)HMM predict
19PhosphoserineHMM predict
115Phosphotyrosine(INSR)HMM predict
133O-linkedHMM predict
154Phosphoserine(CK2)HMM predict
156Phosphoserine(CK1)HMM predict
185Phosphotyrosine(INSR)HMM predict
253Phosphotyrosine(SRC)HMM predict
253Phosphotyrosine(INSR)HMM predict
312Phosphotyrosine(Jak)HMM predict
389Phosphothreonine(PKC)HMM predict
446Phosphoserine(ATM)HMM predict
469Phosphotyrosine(SRC)HMM predict
479N-linkedHMM predict
503Phosphoserine(CK1)HMM predict
503PhosphoserineHMM predict
503Phosphoserine(ATM)HMM predict
535Phosphoserine(PKC)HMM predict
544Phosphothreonine(PKA)HMM predict
545Phosphothreonine(PKA)HMM predict
553O-linkedHMM predict
569Phosphoserine(CDK)HMM predict
610Phosphothreonine(PKA)HMM predict
613Phosphothreonine(CDC2)HMM predict
613Phosphothreonine(MAPK)HMM predict
613Phosphothreonine(CDK)HMM predict
620Phosphoserine(PKB)HMM predict
620Phosphoserine(IKK)HMM predict
659PhosphoserineHMM predict
659O-linkedHMM predict
659Phosphoserine(CDC2)HMM predict
663O-linkedHMM predict
700Phosphothreonine(PKC)HMM predict
700Phosphothreonine(CK2)HMM predict
708Phosphoserine(CDC2)HMM predict
735Phosphothreonine(CDK)HMM predict
770N-linkedHMM predict
781Phosphothreonine(MAPK)HMM predict
805Phosphoserine(ATM)HMM predict
808Phosphoserine(IKK)HMM predict
808O-linkedHMM predict
812N-linkedHMM predict
814Phosphothreonine(MAPK)HMM predict
852Phosphothreonine(CDC2)HMM predict
852O-linkedHMM predict
852Phosphothreonine(MAPK)HMM predict
854O-linkedHMM predict
854Phosphothreonine(MAPK)HMM predict
855O-linkedHMM predict
855O-linkedHMM predict
893Phosphoserine(PKG)HMM predict
906O-linkedHMM predict
915Phosphoserine(ATM)HMM predict
919Phosphoserine(ATM)HMM predict
935Phosphothreonine(PKA)HMM predict
949Phosphoserine(ATM)HMM predict
963Phosphothreonine(MAPK)HMM predict
972O-linkedHMM predict
977O-linkedHMM predict
977Phosphoserine(MAPK)HMM predict
977Phosphoserine(CDC2)HMM predict
983O-linkedHMM predict
987O-linkedHMM predict
1106O-linkedHMM predict
1111Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005157
  • Location:chr9 132700651-132752878
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 132728778 132729204 426 0
CTCF CD4GSE12889 132731691 132731949 258 0
CTCF CD4SISSRdata 132728778 132729204 426 0
CTCF CD4SISSRdata 132731691 132731949 258 0
H3ac HepG2E 132702067 132702696 629 0
P300 T30-glioblastomaGSE21026 132725720 132726676 956 0
TFAP2C MCF7GSE21234 132749635 132750208 573 0
hScc1 BcellGSE12603 132725756 132726008 252 0
hScc1 BcellGSE12603 132728682 132729420 738 0
hScc1 BcellGSE12603 132731488 132731953 465 0
hScc1 BcellGSE12603 132749279 132749625 346 0
hScc1 BcellGSE12603 132750875 132751244 369 0
hScc1 CdLSGSE12603 132728682 132729293 611 0
hScc1 CdLSGSE12603 132731488 132731989 501 0
hScc1 G2GSE9613 132728682 132729420 738 0
hScc1 G2GSE9613 132731488 132731920 432 0
p130 SenescentGSE19898 132725982 132726442 460 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-203 hsa-mir-203 14 18538733
hsa-miR-203 hsa-mir-203 14 18538729
hsa-miR-328 hsa-mir-328 16 20211135
No data
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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