AutismKB 2.0

Annotation Detail for L3MBTL2


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Basic Information Top
Gene Symbol:L3MBTL2 ( H-l(3)mbt-l,L3MBT )
Gene Full Name: l(3)mbt-like 2 (Drosophila)
Band: 22q13.2
Quick LinksEntrez ID:83746; OMIM: 611865; Uniprot ID:LMBL2_HUMAN; ENSEMBL ID: ENSG00000100395; HGNC ID: 18594
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
blastocyst4 / 6231964
fetus19 / 56401233
neonate0 / 310970 
infant3 / 23620127
juvenile3 / 5555653
adult64 / 193912133
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult1 / 19391210 
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) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor17 / 26384564
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor6 / 10312758
lymphoma6 / 7175583
non-neoplasia4 / 9725041
normal115 / 336030734
ovarian tumor0 / 766820 
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer7 / 10268068
retinoblastoma4 / 4635686
skin tumor18 / 124949144
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor6 / 9025766
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal3 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain36 / 110098932
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye14 / 21105466
heart3 / 8962633
intestine12 / 23447251
kidney6 / 21177728
larynx0 / 241450 
liver2 / 2077439
lung16 / 33697447
lymph3 / 4427067
lymph node7 / 9161076
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta21 / 28082574
prostate7 / 18934536
salivary gland0 / 201550 
skin19 / 21057490
spleen1 / 5395218
stomach2 / 9661920
testis23 / 33044269
thymus1 / 8113112
thyroid0 / 474730 
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord0 / 136800 
uterus11 / 23287847
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P80353
  • 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
Amygdala4.1 ± 0.7
Basal Forebrain3.78 ± 0.22
Basal Part of Pons4.1 ± 0.56
Cerebellar Cortex4.09 ± 0.51
Cerebellar Nuclei3.7 ± 0.5
Claustrum4.23 ± 0.7
Epithalamus3.7 ± 0.38
Frontal Lobe4.09 ± 0.43
Globus Pallidus3.39 ± 0.43
Hypothalamus3.91 ± 0.55
Insula4.05 ± 0.46
Limbic Lobe4 ± 0.5
Mesencephalon3.89 ± 0.54
Myelencephalon3.96 ± 0.54
Occipital Lobe3.56 ± 0.56
Parietal Lobe3.93 ± 0.51
Pontine Tegmentum3.89 ± 0.55
Striatum3.73 ± 0.5
Subthalamus3.6 ± 0.29
Temporal Lobe4.09 ± 0.46
Thalamus4.01 ± 0.5
White Matter3.44 ± 0.53
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
L3mbtl2CBCerebellum14.82
23.64
L3mbtl2CTXCerebral cortex77.58
66.17
L3mbtl2HIPHippocampal region31.67
53.55
L3mbtl2HPFHippocampal formation36.58
49.08
L3mbtl2HYHypothalamus13.6
12.51
L3mbtl2LSXLateral septal complex20.53
15.87
L3mbtl2MBMidbrain8.45
9.67
L3mbtl2MYMedulla5.29
8.18
L3mbtl2OLFOlfactory bulb42.38
39.84
L3mbtl2PPons5.27
8.55
L3mbtl2PALPallidum20.14
20.74
L3mbtl2RHPRetrohippocampal region43.63
44.82
L3mbtl2sAMYStriatum-like amygdalar nuclei29.36
26.43
L3mbtl2STRStriatum37.11
29.47
L3mbtl2STRdStriatum dorsal region39.89
31.58
L3mbtl2STRvStriatum ventral region38.98
29.84
L3mbtl2THThalamus23.78
23.94
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