AutismKB 2.0

Annotation Detail for ASXL1


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Basic Information Top
Gene Symbol:ASXL1 ( KIAA0978,MGC117280,MGC71111 )
Gene Full Name: additional sex combs like 1 (Drosophila)
Band: 20q11.21
Quick LinksEntrez ID:171023; OMIM: 612990; Uniprot ID:ASXL1_HUMAN; ENSEMBL ID: ENSG00000171456; HGNC ID: 18318
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
164Nuclear localization signal 1
288LXXLL motif.
413Nuclear localization signal 2
503Phosphoserine (By similarity).
Location(AA) Modifications Resource
503Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
23N-linkedHMM predict
30Phosphothreonine(MAPK)HMM predict
30Phosphothreonine(CDK)HMM predict
51Phosphoserine(IKK)HMM predict
113Phosphoserine(CK1)HMM predict
113Phosphoserine(IKK)HMM predict
126Phosphoserine(CK2)HMM predict
131Phosphoserine(CK1)HMM predict
133N-linkedHMM predict
135O-linkedHMM predict
165Phosphothreonine(PKA)HMM predict
201Phosphoserine(CDC2)HMM predict
201Phosphoserine(ATM)HMM predict
201Phosphoserine(IKK)HMM predict
203O-linkedHMM predict
204O-linkedHMM predict
205Phosphoserine(CK1)HMM predict
358SulfotyrosineHMM predict
359Phosphotyrosine(EGFR)HMM predict
425Phosphotyrosine(Jak)HMM predict
430Phosphoserine(CK2)HMM predict
441Phosphoserine(IKK)HMM predict
441Phosphoserine(CK2)HMM predict
470O-linkedHMM predict
501Phosphoserine(PKG)HMM predict
503Phosphoserine(CDC2)HMM predict
503Phosphoserine(CDK)HMM predict
554Phosphoserine(CK2)HMM predict
557O-linkedHMM predict
563Phosphothreonine(PKC)HMM predict
661MethylarginineHMM predict
664Phosphoserine(PKB)HMM predict
682O-linkedHMM predict
683Phosphothreonine(MAPK)HMM predict
770Phosphoserine(IKK)HMM predict
791Phosphoserine(IKK)HMM predict
795Phosphoserine(IKK)HMM predict
798Phosphoserine(CK2)HMM predict
842N-linkedHMM predict
844Phosphothreonine(CDK)HMM predict
844Phosphothreonine(MAPK)HMM predict
844Phosphothreonine(CDC2)HMM predict
844O-linkedHMM predict
844O-linkedHMM predict
846O-linkedHMM predict
848Phosphothreonine(MAPK)HMM predict
848O-linkedHMM predict
848Phosphothreonine(CDK)HMM predict
878Phosphoserine(PKG)HMM predict
893N-linkedHMM predict
895Phosphoserine(CK1)HMM predict
936O-linkedHMM predict
936Phosphothreonine(CDK)HMM predict
936Phosphothreonine(MAPK)HMM predict
971N-linkedHMM predict
993Phosphoserine(CDC2)HMM predict
999O-linkedHMM predict
1013Phosphoserine(CK2)HMM predict
1014Phosphoserine(CK2)HMM predict
1024Phosphothreonine(PKC)HMM predict
1038N-linkedHMM predict
1087Phosphotyrosine(Syk)HMM predict
1095Phosphoserine(IKK)HMM predict
1129Phosphoserine(IKK)HMM predict
1131Phosphoserine(CK2)HMM predict
1131Phosphoserine(CK1)HMM predict
1133Phosphoserine(CDC2)HMM predict
1133Phosphoserine(ATM)HMM predict
1165Phosphoserine(IKK)HMM predict
1255Phosphoserine(IKK)HMM predict
1271Phosphothreonine(MAPK)HMM predict
1276Phosphoserine(CDC2)HMM predict
1287Phosphothreonine(PKC)HMM predict
1296N-linkedHMM predict
1313Phosphothreonine(PKC)HMM predict
1344Phosphoserine(IKK)HMM predict
1351Phosphothreonine(MAPK)HMM predict
1388Phosphothreonine(PKC)HMM predict
1388Phosphothreonine(PKA)HMM predict
1429Phosphoserine(IKK)HMM predict
1432Phosphoserine(ATM)HMM predict
1455N-linkedHMM predict
1460Phosphoserine(CDC2)HMM predict
1485Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015338
  • Location:chr20 30409813-30490781
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 30408939 30410163 1224 263
H3K4me2 HCT116GSE10453 30408128 30409225 1097 1137
H3ac HepG2E 30408128 30409807 1679 846
TAF HelaGSE8489 30408128 30409450 1322 1025
p130 QuiescentGSE19898 30408346 30408595 249 1343
p130 SenescentGSE19898 30408970 30410037 1067 310
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 30490868 30491187 319 246
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 30409769 30410231 462 0
H3K4me3 colorectalcancer 30410748 30411360 612 0
H3ac HepG2E 30410601 30412297 1696 0
H3ac HepG2E 30413566 30413778 212 0
H3ac HepG2E 30414161 30414574 413 0
H3ac HepG2E 30414846 30415640 794 0
H3ac HepG2E 30417634 30418318 684 0
Nanog hESGSE18292 30420347 30420764 417 0
PHF8 HeLaGSE20725 30408993 30410970 1977 0
Rb GrowingGSE19898 30410391 30410562 171 0
p130 SenescentGSE19898 30410371 30410988 617 0
p130 shRbQuiescentGSE19898 30410686 30411253 567 0
p130 shRbSenescentGSE19898 30410200 30410347 147 0
p130 shRbSenescentGSE19898 30410476 30410995 519 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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