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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body9 / 70761127
blastocyst5 / 6231980
fetus77 / 564012136
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult181 / 193912193
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor11 / 94178116
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor19 / 114246166
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor17 / 26384564
glioma11 / 106883102
head and neck tumor12 / 13630288
kidney tumor2 / 6895929
leukemia22 / 95842229
liver tumor5 / 9635951
lung tumor5 / 10312748
lymphoma4 / 7175555
non-neoplasia5 / 9725051
normal336 / 336030799
ovarian tumor8 / 76682104
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor3 / 12494924
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood9 / 12347872
bone8 / 71655111
bone marrow2 / 4880140
brain86 / 110098978
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus0 / 202090 
eye11 / 21105452
heart7 / 8962678
intestine28 / 234472119
kidney7 / 21177733
larynx7 / 24145289
liver18 / 20774386
lung44 / 336974130
lymph1 / 4427022
lymph node69 / 91610753
mammary gland23 / 153271150
mouth1 / 6705214
muscle12 / 107715111
nerve3 / 15768190
ovary8 / 10205178
pancreas16 / 21481274
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta12 / 28082542
prostate15 / 18934579
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach6 / 9661962
testis16 / 33044248
thymus9 / 81131110
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus14 / 23287860
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212076_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.95
Adipocyte4.15
AdrenalCortex4.65
Adrenalgland3.7
Amygdala5.3
Appendix6.85
AtrioventricularNode5.8
BDCA4+_DentriticCells8.8
Bonemarrow4.15
BronchialEpithelialCells4.4
CD105+_Endothelial7.25
CD14+_Monocytes6.55
CD19+_BCells(neg._sel.)31.9
CD33+_Myeloid16.25
CD34+30.2
CD4+_Tcells109.3
CD56+_NKCells13.35
CD71+_EarlyErythroid4.05
CD8+_Tcells104.1
CardiacMyocytes5.25
Caudatenucleus3.9
Cerebellum5.8
CerebellumPeduncles27.15
CiliaryGanglion3.5
CingulateCortex4.4
Colorectaladenocarcinoma6.5
DorsalRootGanglion4.35
FetalThyroid6
Fetalbrain11.35
Fetalliver3.8
Fetallung3.6
GlobusPallidus3.35
Heart4.75
Hypothalamus3.9
Kidney3.35
Leukemia_chronicMyelogenousK-5624.05
Leukemia_promyelocytic-HL-604.15
Leukemialymphoblastic(MOLT-4)6.75
Liver5.85
Lung4.8
Lymphnode6.25
Lymphoma_burkitts(Daudi)6.35
Lymphoma_burkitts(Raji)5.95
MedullaOblongata5.35
OccipitalLobe8.05
OlfactoryBulb5.4
Ovary4.15
Pancreas3.55
PancreaticIslet4.7
ParietalLobe5.55
Pituitary6
Placenta4.3
Pons6.1
PrefrontalCortex40.8
Prostate6.85
Salivarygland3.45
SkeletalMuscle5.25
Skin3.7
SmoothMuscle4.55
Spinalcord4.65
SubthalamicNucleus9.85
SuperiorCervicalGanglion5.15
TemporalLobe4.05
Testis3.45
TestisGermCell3.65
TestisIntersitial3.7
TestisLeydigCell4.15
TestisSeminiferousTubule3.65
Thalamus4.25
Thymus14.45
Thyroid5.45
Tongue6.25
Tonsil5.65
Trachea3.55
TrigeminalGanglion4.75
Uterus9.35
UterusCorpus3.95
WholeBlood4.15
Wholebrain4.2
colon4.1
pineal_day26.32
pineal_night15.48
retina10.075
small_intestine3.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P196298
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala9.07 ± 0.46
Basal Forebrain8.94 ± 0.2
Basal Part of Pons8.6 ± 0.36
Cerebellar Cortex8.88 ± 0.28
Cerebellar Nuclei8.57 ± 0.27
Claustrum9.24 ± 0.46
Epithalamus8.84 ± 0.19
Frontal Lobe8.5 ± 0.34
Globus Pallidus8.92 ± 0.18
Hypothalamus8.68 ± 0.26
Insula8.58 ± 0.32
Limbic Lobe8.75 ± 0.44
Mesencephalon8.82 ± 0.34
Myelencephalon8.75 ± 0.38
Occipital Lobe9.12 ± 0.39
Parietal Lobe8.74 ± 0.33
Pontine Tegmentum8.69 ± 0.32
Striatum8.91 ± 0.37
Subthalamus8.48 ± 0.2
Temporal Lobe8.61 ± 0.31
Thalamus8.72 ± 0.24
White Matter9.48 ± 0.32
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00044512 23 2071 2093 IVECRPPVVEPDINSTVEHDENR Peptide Atlas

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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