AutismKB 2.0

Annotation Detail for MAML2


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Basic Information Top
Gene Symbol:MAML2 ( DKFZp686N0150,KIAA1819,MAM-3,MAM2,MAM3,MGC176701,MLL-MAML2 )
Gene Full Name: mastermind-like 2 (Drosophila)
Band: 11q21
Quick LinksEntrez ID:84441; OMIM: 607537; Uniprot ID:MAML2_HUMAN; ENSEMBL ID: ENSG00000184384; HGNC ID: 16259
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 body1 / 7076114
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult72 / 193912137
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal60 / 336030717
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine9 / 23447238
kidney7 / 21177733
larynx3 / 24145124
liver1 / 2077434
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland8 / 15327152
mouth4 / 6705259
muscle6 / 10771555
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta16 / 28082556
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P169092
  • 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
Amygdala4.87 ± 0.54
Basal Forebrain4.87 ± 0.46
Basal Part of Pons4.11 ± 0.54
Cerebellar Cortex5.33 ± 0.3
Cerebellar Nuclei4.9 ± 0.35
Claustrum4.23 ± 0.66
Epithalamus5.4 ± 0.79
Frontal Lobe4.46 ± 0.66
Globus Pallidus5.67 ± 1.05
Hypothalamus4.55 ± 0.65
Insula4.27 ± 0.45
Limbic Lobe4.61 ± 0.84
Mesencephalon5 ± 0.67
Myelencephalon4.7 ± 0.74
Occipital Lobe4.81 ± 0.61
Parietal Lobe4.51 ± 0.8
Pontine Tegmentum4.79 ± 0.61
Striatum5.09 ± 0.95
Subthalamus4.68 ± 0.78
Temporal Lobe4.51 ± 0.57
Thalamus4.74 ± 0.5
White Matter5.35 ± 0.64
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00066622 10 268 277 EPGETLSCSK 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