AutismKB 2.0

Annotation Detail for MCOLN3


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Basic Information Top
Gene Symbol:MCOLN3 ( FLJ11006,FLJ36629,MGC71509,TRP-ML3,TRPML3 )
Gene Full Name: mucolipin 3
Band: 1p22.3
Quick LinksEntrez ID:55283; OMIM: 607400; Uniprot ID:MCLN3_HUMAN; ENSEMBL ID: ENSG00000055732; HGNC ID: 13358
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 body2 / 7076128
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult23 / 193912111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal34 / 336030710
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye0 / 2110540 
heart0 / 896260 
intestine3 / 23447212
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid5 / 20539243
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220484_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.35
Adipocyte4.55
AdrenalCortex81.55
Adrenalgland4.3
Amygdala4.85
Appendix5.15
AtrioventricularNode4.1
BDCA4+_DentriticCells4.85
Bonemarrow4.65
BronchialEpithelialCells4.6
CD105+_Endothelial4.65
CD14+_Monocytes4.85
CD19+_BCells(neg._sel.)5
CD33+_Myeloid5.75
CD34+5.7
CD4+_Tcells5.05
CD56+_NKCells5.45
CD71+_EarlyErythroid4.35
CD8+_Tcells4.5
CardiacMyocytes6.4
Caudatenucleus4.2
Cerebellum3.75
CerebellumPeduncles5.25
CiliaryGanglion3.25
CingulateCortex4.75
Colorectaladenocarcinoma4.75
DorsalRootGanglion3.7
FetalThyroid4.5
Fetalbrain4.6
Fetalliver4
Fetallung3.85
GlobusPallidus3.45
Heart6.4
Hypothalamus5.05
Kidney3.85
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.65
Liver6.1
Lung5
Lymphnode3.95
Lymphoma_burkitts(Daudi)5.9
Lymphoma_burkitts(Raji)6.6
MedullaOblongata4.15
OccipitalLobe4.15
OlfactoryBulb3.65
Ovary3.1
Pancreas3.8
PancreaticIslet5
ParietalLobe4.9
Pituitary5.45
Placenta4.65
Pons4.4
PrefrontalCortex5.75
Prostate5.35
Salivarygland3.7
SkeletalMuscle5.6
Skin3.65
SmoothMuscle5.2
Spinalcord4.95
SubthalamicNucleus4.2
SuperiorCervicalGanglion5.75
TemporalLobe4.25
Testis3.95
TestisGermCell3.85
TestisIntersitial3.9
TestisLeydigCell4.6
TestisSeminiferousTubule3.95
Thalamus4.7
Thymus3.7
Thyroid5.8
Tongue4.75
Tonsil4.5
Trachea3.8
TrigeminalGanglion4.8
Uterus3.8
UterusCorpus4.25
WholeBlood5.1
Wholebrain3.9
colon4.55
pineal_day5.66
pineal_night5.58
retina5.55
small_intestine4.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P12241
  • 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
Amygdala2.68 ± 0.71
Basal Forebrain2.15 ± 0.48
Basal Part of Pons1.64 ± 0.36
Cerebellar Cortex1.66 ± 0.89
Cerebellar Nuclei1.9 ± 0.61
Claustrum2.61 ± 1.18
Epithalamus2.01 ± 0.55
Frontal Lobe1.87 ± 0.93
Globus Pallidus2.57 ± 0.59
Hypothalamus1.67 ± 0.41
Insula1.85 ± 0.61
Limbic Lobe2.6 ± 1.26
Mesencephalon2.04 ± 0.83
Myelencephalon1.98 ± 0.63
Occipital Lobe2.09 ± 0.77
Parietal Lobe2.16 ± 1.26
Pontine Tegmentum2.27 ± 1.15
Striatum3.2 ± 0.98
Subthalamus1.95 ± 0.83
Temporal Lobe1.9 ± 0.93
Thalamus1.73 ± 0.76
White Matter2.47 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mcoln3CBCerebellum4.45
5.25
Mcoln3CTXCerebral cortex2.96
1.27
Mcoln3HIPHippocampal region0.98
1.03
Mcoln3HPFHippocampal formation1
0.9
Mcoln3HYHypothalamus0.97
0.57
Mcoln3LSXLateral septal complex0.77
0.95
Mcoln3MBMidbrain0.85
0.69
Mcoln3MYMedulla3.95
2.4
Mcoln3OLFOlfactory bulb8.49
5.56
Mcoln3PPons5
2.87
Mcoln3PALPallidum0.9
0.34
Mcoln3RHPRetrohippocampal region0.95
0.72
Mcoln3sAMYStriatum-like amygdalar nuclei2.22
1.07
Mcoln3STRStriatum1.7
0.85
Mcoln3STRdStriatum dorsal region1.78
0.93
Mcoln3STRvStriatum ventral region1.51
0.54
Mcoln3THThalamus0.67
0.52
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


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