AutismKB 2.0

Annotation Detail for MLL5


View Evidences View Variants View Annotations
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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body7 / 7076198
blastocyst2 / 6231932
fetus44 / 56401278
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult177 / 193912191
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor16 / 114246140
esophageal tumor1 / 1729057
gastrointestinal tumor23 / 119369192
germ cell tumor20 / 26384575
glioma11 / 106883102
head and neck tumor14 / 136302102
kidney tumor7 / 68959101
leukemia16 / 95842166
liver tumor7 / 9635972
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal252 / 336030774
ovarian tumor6 / 7668278
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites4 / 4001599
bladder2 / 2975767
blood11 / 12347889
bone7 / 7165597
bone marrow10 / 48801204
brain46 / 110098941
cervix2 / 4817141
connective tissue2 / 14925513
ear6 / 16212370
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye19 / 21105490
heart3 / 8962633
intestine23 / 23447298
kidney18 / 21177784
larynx1 / 2414541
liver15 / 20774372
lung27 / 33697480
lymph1 / 4427022
lymph node7 / 9161076
mammary gland31 / 153271202
mouth10 / 67052149
muscle3 / 10771527
nerve0 / 157680 
ovary9 / 10205188
pancreas25 / 214812116
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta4 / 28082514
prostate14 / 18934573
salivary gland1 / 2015549
skin13 / 21057461
spleen4 / 5395274
stomach25 / 96619258
testis15 / 33044245
thymus7 / 8113186
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus12 / 23287851
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P196704
  • 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
Amygdala10.78 ± 0.28
Basal Forebrain10.77 ± 0.19
Basal Part of Pons10.38 ± 0.15
Cerebellar Cortex10.9 ± 0.14
Cerebellar Nuclei10.51 ± 0.16
Claustrum10.96 ± 0.29
Epithalamus10.44 ± 0.28
Frontal Lobe10.47 ± 0.3
Globus Pallidus10.8 ± 0.19
Hypothalamus10.4 ± 0.42
Insula10.55 ± 0.22
Limbic Lobe10.53 ± 0.29
Mesencephalon10.65 ± 0.26
Myelencephalon10.56 ± 0.33
Occipital Lobe10.85 ± 0.25
Parietal Lobe10.66 ± 0.24
Pontine Tegmentum10.65 ± 0.31
Striatum10.55 ± 0.32
Subthalamus10.66 ± 0.23
Temporal Lobe10.53 ± 0.31
Thalamus10.63 ± 0.22
White Matter11.24 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mll5CBCerebellum55.71
67.24
Mll5CTXCerebral cortex100
98.16
Mll5HIPHippocampal region66.59
97.03
Mll5HPFHippocampal formation80.28
92.9
Mll5HYHypothalamus60.32
46.39
Mll5LSXLateral septal complex66.91
50.76
Mll5MBMidbrain56.65
48.42
Mll5MYMedulla53.07
49.38
Mll5OLFOlfactory bulb88.69
81.82
Mll5PPons45.4
41.98
Mll5PALPallidum46.17
38.38
Mll5RHPRetrohippocampal region100
89.17
Mll5sAMYStriatum-like amygdalar nuclei57.63
41.97
Mll5STRStriatum74.41
56.41
Mll5STRdStriatum dorsal region76.32
58.49
Mll5STRvStriatum ventral region78.61
57.84
Mll5THThalamus51.64
41.77
Peptide 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