AutismKB 2.0

Annotation Detail for MLL4


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Basic Information Top
Gene Symbol:MLL4 ( HRX2,KIAA0304,MLL2,TRX2,WBP7 )
Gene Full Name: -
Band: 19q13.1
Quick LinksEntrez ID:9757; OMIM: 606834; Uniprot ID:MLL4_HUMAN; ENSEMBL ID: ENSG00000105663; 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 body6 / 7076184
blastocyst6 / 6231996
fetus18 / 56401231
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult74 / 193912138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor12 / 26384545
glioma7 / 10688365
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor3 / 9635931
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal109 / 336030732
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor6 / 12494948
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites3 / 4001574
bladder0 / 297570 
blood9 / 12347872
bone3 / 7165541
bone marrow0 / 488010 
brain29 / 110098926
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye10 / 21105447
heart3 / 8962633
intestine6 / 23447225
kidney3 / 21177714
larynx3 / 24145124
liver5 / 20774324
lung12 / 33697435
lymph0 / 442700 
lymph node7 / 9161076
mammary gland3 / 15327119
mouth1 / 6705214
muscle1 / 1077159
nerve1 / 1576863
ovary6 / 10205158
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate3 / 18934515
salivary gland0 / 201550 
skin9 / 21057442
spleen3 / 5395255
stomach0 / 966190 
testis12 / 33044236
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203419_at
Cell line Expression level Expression bar
721_B_lymphoblasts48.45
Adipocyte20.65
AdrenalCortex29.05
Adrenalgland24.1
Amygdala31.2
Appendix45.5
AtrioventricularNode12.7
BDCA4+_DentriticCells97.9
Bonemarrow37.95
BronchialEpithelialCells12.1
CD105+_Endothelial34.4
CD14+_Monocytes58.25
CD19+_BCells(neg._sel.)75.2
CD33+_Myeloid67.1
CD34+82.15
CD4+_Tcells83.9
CD56+_NKCells45.6
CD71+_EarlyErythroid22.7
CD8+_Tcells134
CardiacMyocytes22.95
Caudatenucleus36
Cerebellum22.15
CerebellumPeduncles58.85
CiliaryGanglion19.25
CingulateCortex32.8
Colorectaladenocarcinoma42.4
DorsalRootGanglion12.9
FetalThyroid35.15
Fetalbrain33.1
Fetalliver19.4
Fetallung23.85
GlobusPallidus17.3
Heart27.75
Hypothalamus31.45
Kidney19.55
Leukemia_chronicMyelogenousK-56239.45
Leukemia_promyelocytic-HL-6026.05
Leukemialymphoblastic(MOLT-4)42.1
Liver37.8
Lung35.5
Lymphnode46.7
Lymphoma_burkitts(Daudi)31.65
Lymphoma_burkitts(Raji)154.25
MedullaOblongata30.5
OccipitalLobe29.3
OlfactoryBulb21.8
Ovary19.35
Pancreas18.65
PancreaticIslet26.6
ParietalLobe27.1
Pituitary20.95
Placenta32.65
Pons27.05
PrefrontalCortex72.9
Prostate36.6
Salivarygland16.55
SkeletalMuscle22.7
Skin16.35
SmoothMuscle19.95
Spinalcord28.2
SubthalamicNucleus26.75
SuperiorCervicalGanglion22.3
TemporalLobe22.25
Testis31.45
TestisGermCell135
TestisIntersitial51.8
TestisLeydigCell39.9
TestisSeminiferousTubule101.95
Thalamus32.45
Thymus57.25
Thyroid69.2
Tongue23.15
Tonsil25.55
Trachea17.05
TrigeminalGanglion25.6
Uterus38.8
UterusCorpus15.2
WholeBlood47.5
Wholebrain21.95
colon17.85
pineal_day58.4
pineal_night39.12
retina50.425
small_intestine20.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10586_PI416261804
  • 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
Amygdala4.42 ± 0.39
Basal Forebrain4 ± 0.37
Basal Part of Pons4.21 ± 0.36
Cerebellar Cortex4.68 ± 0.38
Cerebellar Nuclei3.65 ± 0.64
Claustrum4.03 ± 0.74
Epithalamus4.45 ± 0.49
Frontal Lobe4.16 ± 0.61
Globus Pallidus3.6 ± 0.25
Hypothalamus3.56 ± 0.6
Insula4.3 ± 0.36
Limbic Lobe4.19 ± 0.64
Mesencephalon4.1 ± 0.64
Myelencephalon4.18 ± 0.58
Occipital Lobe4.34 ± 0.54
Parietal Lobe4.12 ± 0.52
Pontine Tegmentum4.12 ± 0.56
Striatum3.84 ± 0.51
Subthalamus4.06 ± 0.15
Temporal Lobe4.21 ± 0.55
Thalamus4.2 ± 0.44
White Matter4.75 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Wbp7CBCerebellum26.14
24.86
Wbp7CTXCerebral cortex55.83
38.77
Wbp7HIPHippocampal region42.5
43.28
Wbp7HPFHippocampal formation45.35
40.77
Wbp7HYHypothalamus33.63
23.39
Wbp7LSXLateral septal complex35.55
23.4
Wbp7MBMidbrain29.34
23.1
Wbp7MYMedulla38.8
34.43
Wbp7OLFOlfactory bulb61.32
45.83
Wbp7PPons32.73
27.79
Wbp7PALPallidum37.88
28.46
Wbp7RHPRetrohippocampal region50.6
37.52
Wbp7sAMYStriatum-like amygdalar nuclei48.42
31.65
Wbp7STRStriatum31.87
21.12
Wbp7STRdStriatum dorsal region27.48
18.85
Wbp7STRvStriatum ventral region39.23
23.52
Wbp7THThalamus43.45
31.59
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MLL4_HUMAN_2068 12 2068 2079 TDSEAEAVQQPR PRIDE
MLL4_HUMAN_344 12 344 355 VGSGQGGSPCWK PRIDE
MLL4_HUMAN_902 23 902 924 QDLATEDTSSASETESVPSRSRR PRIDE
PAp00003234 15 1273 1287 HAYHPACLGPSYPTR 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