AutismKB 2.0

Annotation Detail for MLL


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Basic Information Top
Gene Symbol:MLL ( ALL-1,CXXC7,FLJ11783,HRX,HTRX1,KMT2A,MLL/GAS7,MLL1A,TET1-MLL,TRX1 )
Gene Full Name: myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
Band: 11q23
Quick LinksEntrez ID:4297; OMIM: 159555; Uniprot ID:MLL1_HUMAN; ENSEMBL ID: ENSG00000118058; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
136Phosphoserine.
153Phosphoserine.
197Phosphoserine.
202Phosphoserine.
279Phosphoserine.
337Phosphothreonine.
506Phosphothreonine.
518Phosphoserine.
636N6-acetyllysine.
680Phosphoserine.
831Phosphoserine.
840Phosphothreonine.
926Phosphoserine.
1056Phosphoserine.
1130N6-acetyllysine.
1235N6-acetyllysine.
1241Phosphoserine.
1837Phosphoserine.
1839Phosphothreonine.
1845Phosphothreonine.
1858Phosphoserine.
2098Phosphoserine.
2147Phosphothreonine.
2151Phosphoserine.
2153Phosphothreonine.
2199Phosphoserine.
2201Phosphoserine.
2388Phosphoserine.
2391Phosphoserine.
2525Phosphothreonine.
2691Phosphoserine.
2724Phosphothreonine.
2726Phosphoserine.
2729Phosphoserine.
28559aaTAD.
2866Phosphoserine.
2940Phosphothreonine.
2955Phosphoserine.
3036Phosphoserine.
3372Phosphothreonine.
3510Phosphothreonine.
3511Phosphoserine.
3515Phosphoserine.
3517Phosphoserine.
3518Phosphoserine.
3525Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005933
  • Location:chr11 117812414-117901143
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 117810092 117812635 2543 1051
FOXA1 DLD1GSE12801 117809984 117810435 451 2205
Fos K562GSE19551 117811760 117812603 843 233
H3K4me3 colorectalcancer 117810471 117810753 282 1803
NRSF JurkatGSE13047 117810405 117811712 1307 1356
NRSF-mono JurkatQuESTdata 117810309 117811686 1377 1417
NRSF-poly JurkatQuESTdata 117803564 117803964 400 8651
Oct1 HelaGSE14283 117800353 117800421 68 12028
P300 T30-glioblastomaGSE21026 117800050 117801324 1274 11728
PHF8 HeLaGSE20725 117811291 117813071 1780 234
Rb SenescentGSE19898 117811867 117812334 467 314
TFAP2C MCF7GSE21234 117810502 117812208 1706 1060
USF1 HepG2E 117809984 117810799 815 2023
hScc1 BcellGSE12603 117810435 117811079 644 1658
hScc1 CdLSGSE12603 117810435 117811079 644 1658
p130 shRbSenescentGSE19898 117811800 117812269 469 380
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 117903003 117903078 75 1897
ER Fulvestrant-MCF7GSE14664 117901452 117901487 35 326
Oct1 HelaGSE14283 117901450 117901488 38 326
TFAP2C MCF7GSE21234 117902957 117903469 512 2070
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 117864322 117864745 423 0
CTCF CD4SISSRdata 117864322 117864745 423 0
ER E2-MCF7GSE14664 117830673 117830782 109 0
ER Fulvestrant-MCF7GSE14664 117884654 117884742 88 0
FOXA1 DLD1GSE12801 117873752 117874063 311 0
FOXA1 DLD1GSE12801 117886343 117887510 1167 0
NFkBII GM12878GSE19485 117817337 117820490 3153 0
Nanog hESGSE18292 117838245 117838385 140 0
Nanog hESGSE18292 117887472 117887961 489 0
Oct1 HelaGSE14283 117869225 117869269 44 0
RARA MCF7GSE15244 117818235 117818697 462 0
Rb QuiescentGSE19898 117857636 117857940 304 0
Rb SenescentGSE19898 117853836 117854139 303 0
Rb SenescentGSE19898 117857593 117858061 468 0
Rb SenescentGSE19898 117860037 117860292 255 0
Rb shRbQuiescentGSE19898 117857642 117858078 436 0
Rb shRbSenescenceGSE19898 117812377 117812523 146 0
Rb shRbSenescenceGSE19898 117847526 117850300 2774 0
Rb shRbSenescenceGSE19898 117853816 117854224 408 0
Rb shRbSenescenceGSE19898 117857581 117858063 482 0
Rb shRbSenescenceGSE19898 117860048 117860304 256 0
hScc1 BcellGSE12603 117864357 117864672 315 0
hScc1 CdLSGSE12603 117864166 117864672 506 0
hScc1 G2GSE9613 117864392 117864672 280 0
p130 QuiescentGSE19898 117853869 117854184 315 0
p130 QuiescentGSE19898 117857580 117858121 541 0
p130 SenescentGSE19898 117857588 117858141 553 0
p130 shRbQuiescentGSE19898 117857753 117858010 257 0
p130 shRbSenescentGSE19898 117857600 117858058 458 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-128 hsa-mir-128-2 3 19749093
hsa-miR-128 hsa-mir-128-1 2 19749093
hsa-miR-128 hsa-mir-128-2 3 19749093
hsa-miR-128 hsa-mir-128-1 2 19749093
hsa-miR-221 hsa-mir-221 X 19749093
hsa-miR-221 hsa-mir-221 X 19749093
hsa-miR-221* hsa-mir-221 X 19749093
hsa-miR-221* hsa-mir-221 X 19749093
No data
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
5277 mRNA MLL chr11 117812414 117901146 479 EST chr11 117878689 117879794Sense/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