AutismKB 2.0

Annotation Detail for MLL5


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Basic Information Top
Gene Symbol:MLL5 ( FLJ10078,FLJ14026,HDCMC04P,KMT2E,MGC70452 )
Gene Full Name: myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
Band: 7q22.1
Quick LinksEntrez ID:55904; OMIM: 608444; Uniprot ID:MLL5_HUMAN; ENSEMBL ID: ENSG00000005483; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
440O-linked (GlcNAc...).
1405Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_182931
  • Location:chr7 104441872-104541766
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 104437647 104442925 5278 1587
CTCF G2GSE9613 104440377 104441496 1119 936
ER E2-MCF7GSE14664 104431776 104431809 33 10080
Fos K562GSE19551 104439935 104442009 2074 901
H3K4me3 colorectalcancer 104437912 104439140 1228 3347
H3K4me3 colorectalcancer 104439840 104440045 205 1930
H3ac HepG2E 104437978 104439267 1289 3250
Myc hESGSE17917 104440230 104440713 483 1401
NFkBII GM12878GSE19485 104439648 104444053 4405 22
NFkBII GM12892GSE19485 104438833 104443437 4604 738
NFkBII GM18526GSE19485 104439628 104443459 3831 329
Oct1 HelaGSE14283 104431776 104431810 34 10080
PHF8 293TGSE20725 104440089 104442511 2422 573
PHF8 HeLaGSE20725 104439968 104443108 3140 335
PHF8 Hs68plusFBSGSE20725 104439775 104443270 3495 350
Pol2 GM12878GSE19551 104439477 104443140 3663 564
RARA MCF7GSE15244 104433920 104435080 1160 7373
TAF HelaGSE8489 104430335 104430822 487 11294
TAF HelaGSE8489 104439840 104441219 1379 1343
TAF k562GSE8489 104439840 104441256 1416 1325
TFAP2C MCF7GSE21234 104439975 104441846 1871 962
USF1 HepG2E 104439840 104440805 965 1550
USF2 HepG2E 104439840 104440763 923 1571
hScc1 BcellGSE12603 104440228 104441256 1028 1131
hScc1 G2GSE9613 104440349 104442063 1714 667
p130 SenescentGSE19898 104439905 104441873 1968 984
p130 shRbQuiescentGSE19898 104439732 104441777 2045 1118
p130 shRbSenescentGSE19898 104439977 104441833 1856 968
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 104441959 104442915 956 0
CTCF G2GSE9613 104540363 104540523 160 0
FOXA1 MCF7GSE15244 104452237 104452818 581 0
FOXA1 MCF7GSE15244 104539749 104540633 884 0
FoxA1 MCF7MACSdata 104452361 104452892 531 0
H3K4me3 colorectalcancer 104442950 104444203 1253 0
H3ac HepG2E 104439840 104445490 5650 0
Oct1 HelaGSE14283 104461939 104461987 48 0
Oct1 HelaGSE14283 104516587 104516622 35 0
TAF HelaGSE8489 104442176 104442646 470 0
TAF HelaGSE8489 104444348 104445209 861 0
TAF k562GSE8489 104442284 104446330 4046 0
p130 shRbQuiescentGSE19898 104442581 104443432 851 0
p63 keratinocytesGSE17611 104498757 104499576 819 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
24465 mRNA MLL5 chr7 104248587 104348759 132 EST chr7 104247855 104248719Sense/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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