AutismKB 2.0

Annotation Detail for ASH2L


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Basic Information Top
Gene Symbol:ASH2L ( ASH2,ASH2L1,ASH2L2,Bre2 )
Gene Full Name: ash2 (absent, small, or homeotic)-like (Drosophila)
Band: 8p11.23
Quick LinksEntrez ID:9070; OMIM: 604782; Uniprot ID:ASH2L_HUMAN; ENSEMBL ID: ENSG00000129691; HGNC ID: 744
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
23N-linkedHMM predict
48O-linkedHMM predict
52O-linkedHMM predict
52Phosphothreonine(PKC)HMM predict
57Phosphoserine(CK2)HMM predict
101Phosphoserine(CK2)HMM predict
142N-linkedHMM predict
148N-linkedHMM predict
175N-linkedHMM predict
251Phosphotyrosine(Syk)HMM predict
278Phosphoserine(IKK)HMM predict
296MethylarginineHMM predict
480Phosphotyrosine(INSR)HMM predict
501Phosphoserine(IKK)HMM predict
506Phosphotyrosine(Syk)HMM predict
536Phosphothreonine(MAPK)HMM predict
591Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004674
  • Location:chr8 38082222-38116214
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38062998 38063232 234 19108
CTCF CD4SISSRdata 38062998 38063232 234 19108
CTCF G2GSE9613 38081824 38082591 767 15
E2F4 G0GSE7516 38081390 38082627 1237 214
H3ac HepG2E 38081390 38081785 395 635
LIN9 G0GSE7516 38081390 38082731 1341 162
LIN9 SGSE7516 38081427 38082662 1235 178
Oct1 H2O2-HelaGSE14283 38079213 38079240 27 2996
Oct1 HelaGSE14283 38063864 38063907 43 18337
P300 T30-glioblastomaGSE21026 38081276 38082780 1504 195
PHF8 293TGSE20725 38081291 38082899 1608 128
PHF8 HeLaGSE20725 38081465 38082875 1410 53
PolII HeLaGSE12783 38080948 38083174 2226 162
RNAII Tamoxifen-MCF7GSE14664 38080379 38080425 46 1821
p130 QuiescentGSE19898 38081495 38082598 1103 176
p130 shRbQuiescentGSE19898 38081665 38082777 1112 2
p130 shRbSenescentGSE19898 38081401 38082679 1278 183
p130 G0GSE7516 38081390 38082627 1237 214
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 38097365 38097558 193 0
CTCF CD4SISSRdata 38097365 38097558 193 0
CTCF G2GSE9613 38097354 38097676 322 0
ER Fulvestrant-MCF7GSE14664 38088512 38088551 39 0
H3K4me3 colorectalcancer 38082515 38083122 607 0
H3ac HepG2E 38082560 38083122 562 0
H3ac HepG2E 38083654 38084776 1122 0
NRSF pAbJurkat 38082077 38082560 483 0
Nanog hESGSE18292 38084703 38085077 374 0
Oct1 HelaGSE14283 38088517 38088552 35 0
Oct1 HelaGSE14283 38092550 38092610 60 0
RNAII Tamoxifen-MCF7GSE14664 38104993 38105035 42 0
Rb GrowingGSE19898 38082067 38082500 433 0
Rb QuiescentGSE19898 38082058 38082581 523 0
Sox2 hESGSE18292 38097171 38097724 553 0
TAF HelaGSE8489 38083654 38084102 448 0
TAF k562GSE8489 38082766 38083122 356 0
hScc1 BcellGSE12603 38082316 38082662 346 0
hScc1 BcellGSE12603 38097354 38097908 554 0
hScc1 CdLSGSE12603 38081824 38083122 1298 0
hScc1 CdLSGSE12603 38097246 38097676 430 0
p130 SenescentGSE19898 38082032 38082647 615 0
p130 SGSE7516 38081749 38082731 982 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1136 Unknown pSILAC miR-1 ASH2L down 75-50% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000129691 n_a n_a n_a "lymphocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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