AutismKB 2.0

Annotation Detail for MAML3


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Basic Information Top
Gene Symbol:MAML3 ( CAGH3,ERDA3,GDN,MAM-2,MAM2,TNRC3 )
Gene Full Name: mastermind-like 3 (Drosophila)
Band: 4q31.1
Quick LinksEntrez ID:55534; OMIM: 608991; Uniprot ID:MAML3_HUMAN; ENSEMBL ID: ENSG00000196782; HGNC ID: 16272
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 body0 / 707610 
blastocyst4 / 6231964
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult29 / 193912114
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor6 / 13630244
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal76 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone0 / 716550 
bone marrow2 / 4880140
brain13 / 110098911
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine11 / 23447246
kidney1 / 2117774
larynx1 / 2414541
liver1 / 2077434
lung9 / 33697426
lymph0 / 442700 
lymph node12 / 91610130
mammary gland1 / 1532716
mouth4 / 6705259
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas10 / 21481246
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach2 / 9661920
testis6 / 33044218
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1527_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
Amygdala4.86 ± 0.54
Basal Forebrain4.91 ± 0.46
Basal Part of Pons4.98 ± 0.26
Cerebellar Cortex5.38 ± 0.41
Cerebellar Nuclei4.63 ± 0.65
Claustrum5.12 ± 0.86
Epithalamus4.53 ± 0.41
Frontal Lobe4.37 ± 0.56
Globus Pallidus4.99 ± 0.77
Hypothalamus4.84 ± 0.37
Insula4.23 ± 0.55
Limbic Lobe4.68 ± 0.67
Mesencephalon4.59 ± 0.6
Myelencephalon4.7 ± 0.66
Occipital Lobe5.26 ± 0.75
Parietal Lobe4.63 ± 0.58
Pontine Tegmentum4.48 ± 0.66
Striatum5.02 ± 0.83
Subthalamus5.07 ± 0.65
Temporal Lobe4.47 ± 0.54
Thalamus4.35 ± 0.57
White Matter5.17 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Maml3CBCerebellum3.38
4.52
Maml3CTXCerebral cortex2.82
2.02
Maml3HIPHippocampal region6.95
6.15
Maml3HPFHippocampal formation6.83
5.7
Maml3HYHypothalamus0.55
0.59
Maml3LSXLateral septal complex0.28
0.14
Maml3MBMidbrain0.88
1.26
Maml3MYMedulla0.59
0.92
Maml3OLFOlfactory bulb16.92
13.51
Maml3PPons1.62
3.69
Maml3PALPallidum0.96
0.84
Maml3RHPRetrohippocampal region6.39
4.94
Maml3sAMYStriatum-like amygdalar nuclei4.58
3.9
Maml3STRStriatum1.88
1.76
Maml3STRdStriatum dorsal region0.64
0.49
Maml3STRvStriatum ventral region4.6
4.57
Maml3THThalamus0.12
0.1
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