AutismKB 2.0

Annotation Detail for ASH1L


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Basic Information Top
Gene Symbol:ASH1L ( ASH1,ASH1L1,FLJ10504,KIAA1420,KMT2H )
Gene Full Name: ash1 (absent, small, or homeotic)-like (Drosophila)
Band: 1q22
Quick LinksEntrez ID:55870; OMIM: 607999; Uniprot ID:ASH1L_HUMAN; ENSEMBL ID: ENSG00000116539; HGNC ID: 19088
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
22Phosphoserine.
1649Phosphoserine.
1681Phosphoserine.
Location(AA) Modifications Resource
402Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
406Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin).Swiss-Prot 53.0
Location(AA) Modification Resource
22Phosphoserine(CDC2)HMM predict
22Phosphoserine(CDK)HMM predict
43Phosphothreonine(CK2)HMM predict
96Phosphothreonine(PKC)HMM predict
167Phosphoserine(ATM)HMM predict
179Phosphoserine(CDC2)HMM predict
179PhosphoserineHMM predict
190N-linkedHMM predict
230O-linkedHMM predict
235Phosphothreonine(PKC)HMM predict
439Phosphoserine(IKK)HMM predict
453Phosphoserine(CK2)HMM predict
455Phosphoserine(CK1)HMM predict
505Phosphoserine(IKK)HMM predict
507Phosphoserine(CK1)HMM predict
516Phosphothreonine(PKC)HMM predict
529Phosphoserine(CDC2)HMM predict
545Phosphoserine(CDC2)HMM predict
545Phosphoserine(CDK)HMM predict
548O-linkedHMM predict
557O-linkedHMM predict
557Phosphoserine(CDC2)HMM predict
557Phosphoserine(CDK)HMM predict
559Phosphoserine(CDC2)HMM predict
559Phosphoserine(CDK)HMM predict
561O-linkedHMM predict
561O-linkedHMM predict
563O-linkedHMM predict
570Phosphoserine(CDC2)HMM predict
570Phosphoserine(IKK)HMM predict
576Phosphoserine(IKK)HMM predict
634N-linkedHMM predict
636Phosphoserine(CK1)HMM predict
657Phosphothreonine(PKC)HMM predict
658Phosphoserine(CK1)HMM predict
661Phosphoserine(CK1)HMM predict
664O-linkedHMM predict
671N-linkedHMM predict
699Phosphoserine(CK1)HMM predict
701Phosphoserine(CK1)HMM predict
703Phosphoserine(CDK)HMM predict
727Phosphothreonine(PKC)HMM predict
730Phosphoserine(CDC2)HMM predict
730Phosphoserine(CDK)HMM predict
744N-linkedHMM predict
749Phosphoserine(CK1)HMM predict
753Phosphoserine(IKK)HMM predict
846Phosphothreonine(PKC)HMM predict
884Phosphoserine(CDC2)HMM predict
884Phosphoserine(CDK)HMM predict
884Phosphoserine(ATM)HMM predict
899Phosphoserine(CDC2)HMM predict
899Phosphoserine(CDK)HMM predict
933Phosphoserine(PKB)HMM predict
955Phosphoserine(IKK)HMM predict
991Phosphothreonine(PKC)HMM predict
1005Phosphoserine(ATM)HMM predict
1038N-linkedHMM predict
1069Phosphoserine(MAPK)HMM predict
1098Phosphoserine(CK1)HMM predict
1099Phosphoserine(CK1)HMM predict
1109Phosphoserine(ATM)HMM predict
1115O-linkedHMM predict
1119Phosphoserine(CDC2)HMM predict
1119Phosphoserine(IKK)HMM predict
1135Phosphotyrosine(Jak)HMM predict
1144Phosphoserine(CAMK2)HMM predict
1144Phosphoserine(IKK)HMM predict
1162Phosphoserine(PKA)HMM predict
1162Phosphoserine(PKG)HMM predict
1162Phosphoserine(CAMK2)HMM predict
1162Phosphoserine(PKA)HMM predict
1170Phosphoserine(CDC2)HMM predict
1170Phosphoserine(CDK)HMM predict
1179Phosphoserine(CK1)HMM predict
1184O-linkedHMM predict
1193Phosphoserine(CK1)HMM predict
1193Phosphoserine(ATM)HMM predict
1199Phosphoserine(CK2)HMM predict
1207N-linkedHMM predict
1208N-linkedHMM predict
1211Phosphoserine(CK2)HMM predict
1242Phosphoserine(CDC2)HMM predict
1259Phosphotyrosine(Syk)HMM predict
1387O-linkedHMM predict
1387Phosphoserine(ATM)HMM predict
1389O-linkedHMM predict
1389Phosphoserine(CDC2)HMM predict
1414O-linkedHMM predict
1414Phosphoserine(CDC2)HMM predict
1416O-linkedHMM predict
1419O-linkedHMM predict
1419O-linkedHMM predict
1419Phosphothreonine(CDC2)HMM predict
1425O-linkedHMM predict
1458Phosphothreonine(MAPK)HMM predict
1458Phosphothreonine(CDK)HMM predict
1475Phosphotyrosine(SRC)HMM predict
1495Phosphoserine(CK2)HMM predict
1509Phosphoserine(IKK)HMM predict
1562Phosphoserine(CK1)HMM predict
1562PhosphoserineHMM predict
1564Phosphoserine(CK1)HMM predict
1585Phosphoserine(CK1)HMM predict
1599Phosphoserine(CK2)HMM predict
1599PhosphoserineHMM predict
1600Phosphoserine(CK1)HMM predict
1600Phosphoserine(ATM)HMM predict
1620N-linkedHMM predict
1621Phosphoserine(CDC2)HMM predict
1622O-linkedHMM predict
1649Phosphoserine(PKA)HMM predict
1649Phosphoserine(PKG)HMM predict
1663Phosphoserine(ATM)HMM predict
1663Phosphoserine(IKK)HMM predict
1666Phosphothreonine(PKC)HMM predict
1667O-linkedHMM predict
1667Phosphoserine(ATM)HMM predict
1671O-linkedHMM predict
1671Phosphoserine(ATM)HMM predict
1675Phosphoserine(IKK)HMM predict
1677O-linkedHMM predict
1679N-linkedHMM predict
1681Phosphoserine(CDC2)HMM predict
1683Phosphothreonine(PKC)HMM predict
1687Phosphoserine(PKA)HMM predict
1687Phosphoserine(PKG)HMM predict
1689O-linkedHMM predict
1689O-linkedHMM predict
1689Phosphoserine(PKA)HMM predict
1689Phosphoserine(CK1)HMM predict
1689Phosphoserine(CK2)HMM predict
1689Phosphoserine(IKK)HMM predict
1691O-linkedHMM predict
1691Phosphoserine(IKK)HMM predict
1692O-linkedHMM predict
1693Phosphoserine(CK1)HMM predict
1694O-linkedHMM predict
1713Phosphoserine(IKK)HMM predict
1740O-linkedHMM predict
1742O-linkedHMM predict
1742O-linkedHMM predict
1748Phosphoserine(CDC2)HMM predict
1748Phosphoserine(CDK)HMM predict
1748PhosphoserineHMM predict
1754Phosphoserine(CAMK2)HMM predict
1754Phosphoserine(IKK)HMM predict
1788Phosphoserine(IKK)HMM predict
1791Phosphoserine(ATM)HMM predict
1953O-linkedHMM predict
1953Phosphoserine(CDC2)HMM predict
1955O-linkedHMM predict
1957Phosphothreonine(CDC2)HMM predict
1957Phosphothreonine(CDK)HMM predict
1957PhosphothreonineHMM predict
1962Phosphoserine(IKK)HMM predict
1966Phosphoserine(IKK)HMM predict
1999Phosphotyrosine(Syk)HMM predict
2001Phosphothreonine(PKC)HMM predict
2018Phosphotyrosine(INSR)HMM predict
2025Phosphotyrosine(SRC)HMM predict
2082Phosphotyrosine(SRC)HMM predict
2194N-linkedHMM predict
2222N-linkedHMM predict
2228N-linkedHMM predict
2235Phosphoserine(IKK)HMM predict
2273S-palmitoylHMM predict
2334Phosphoserine(CK1)HMM predict
2339Phosphothreonine(MAPK)HMM predict
2344Phosphothreonine(PKA)HMM predict
2344Phosphothreonine(CDK)HMM predict
2421Phosphothreonine(PKC)HMM predict
2484Phosphotyrosine(EGFR)HMM predict
2484Phosphotyrosine(Syk)HMM predict
2530Phosphoserine(CDC2)HMM predict
2543Phosphotyrosine(Jak)HMM predict
2567O-linkedHMM predict
2567Phosphoserine(CK1)HMM predict
2568Phosphoserine(CK1)HMM predict
2568Phosphoserine(IKK)HMM predict
2570PhosphothreonineHMM predict
2571Phosphoserine(CK1)HMM predict
2571Phosphoserine(IKK)HMM predict
2623Phosphotyrosine(Jak)HMM predict
2670Phosphotyrosine(Syk)HMM predict
2678Phosphothreonine(CDC2)HMM predict
2731Phosphoserine(CDC2)HMM predict
2731Phosphoserine(CDK)HMM predict
2819Phosphothreonine(CDK)HMM predict
2819PhosphothreonineHMM predict
2870Phosphoserine(ATM)HMM predict
2880Phosphoserine(CK1)HMM predict
2900Phosphothreonine(PKC)HMM predict
2904Phosphoserine(ATM)HMM predict
2909Phosphoserine(IKK)HMM predict
2912Phosphothreonine(CDC2)HMM predict
2959Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018489
  • Location:chr1 153571676-153798947
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 153798780 153799622 842 254
ETS1 JurkatGSE17954 153798464 153800176 1712 373
H3ac HepG2E 153799584 153800515 931 1102
H3ac HepG2E 153818617 153818847 230 19785
NFkBII GM12892GSE19485 153798267 153800421 2154 397
NFkBII GM15510GSE19485 153798438 153800677 2239 610
NFkBII GM18505GSE19485 153798885 153800260 1375 625
PHF8 HeLaGSE20725 153798399 153800139 1740 322
PHF8 Hs68plusFBSGSE20725 153798402 153800659 2257 583
Pol2 GM12878GSE19551 153798459 153799923 1464 244
TAF HelaGSE8489 153799558 153800584 1026 1124
TAF HelaGSE8489 153800942 153801229 287 2138
TAF k562GSE8489 153799584 153800584 1000 1137
TAF k562GSE8489 153800942 153801229 287 2138
hScc1 CdLSGSE12603 153799658 153800076 418 920
p130 shRbQuiescentGSE19898 153799344 153799844 500 647
p130 shRbSenescentGSE19898 153799093 153799363 270 281
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 153727385 153727937 552 0
ER E2-MCF7GSE14664 153635529 153635563 34 0
ER E2-MCF7GSE14664 153763461 153763493 32 0
FOXA1 MCF7GSE15244 153578218 153578992 774 0
H3K4me2 HCT116GSE10453 153796572 153798481 1909 0
H3K4me3 colorectalcancer 153797107 153798590 1483 0
H3ac HepG2E 153796105 153798704 2599 0
NFkBII GM12878GSE19485 153702259 153703921 1662 0
Oct1 H2O2-HelaGSE14283 153601384 153601423 39 0
Oct1 H2O2-HelaGSE14283 153683192 153683221 29 0
Oct1 H2O2-HelaGSE14283 153707507 153707543 36 0
Oct1 H2O2-HelaGSE14283 153772027 153772063 36 0
Oct1 HelaGSE14283 153601383 153601423 40 0
Oct1 HelaGSE14283 153621976 153622064 88 0
Oct1 HelaGSE14283 153635524 153635596 72 0
Oct1 HelaGSE14283 153635623 153635671 48 0
Oct1 HelaGSE14283 153671754 153671792 38 0
Oct1 HelaGSE14283 153678787 153678820 33 0
Oct1 HelaGSE14283 153772022 153772069 47 0
Oct1 HelaGSE14283 153789139 153789183 44 0
Oct1 HelaGSE14283 153789497 153789535 38 0
RARA MCF7GSE15244 153797212 153798553 1341 0
RNAII Tamoxifen-MCF7GSE14664 153627880 153627966 86 0
TAF HelaGSE8489 153796968 153798396 1428 0
TAF k562GSE8489 153796001 153798445 2444 0
hScc1 BcellGSE12603 153740602 153740944 342 0
hScc1 BcellGSE12603 153798023 153799474 1451 0
hScc1 CdLSGSE12603 153740539 153740944 405 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
1681 mRNA chr1 152344893 152346848 210 mRNA ASH1L chr1 152119816 152345226Sense/Antisense (SA) pairs

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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