AutismKB 2.0

Annotation Detail for MLC1


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Basic Information Top
Gene Symbol:MLC1 ( KIAA0027,LVM,MLC,VL )
Gene Full Name: megalencephalic leukoencephalopathy with subcortical cysts 1
Band: 22q13.33
Quick LinksEntrez ID:23209; OMIM: 605908; Uniprot ID:MLC1_HUMAN; ENSEMBL ID: ENSG00000100427; HGNC ID: 17082
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 
blastocyst0 / 623190 
fetus120 / 564012212
neonate1 / 3109732
infant1 / 2362042
juvenile5 / 5555689
adult51 / 193912126
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor14 / 26384553
glioma14 / 106883130
head and neck tumor1 / 1363027
kidney tumor9 / 68959130
leukemia7 / 9584273
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal1834 / 3360307545
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone0 / 716550 
bone marrow7 / 48801143
brain1844 / 11009891674
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney9 / 21177742
larynx0 / 241450 
liver2 / 2077439
lung0 / 3369740 
lymph0 / 442700 
lymph node4 / 9161043
mammary gland0 / 1532710 
mouth1 / 6705214
muscle2 / 10771518
nerve2 / 15768126
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach0 / 966190 
testis28 / 33044284
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213395_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.35
Adipocyte3.4
AdrenalCortex3.65
Adrenalgland2.95
Amygdala174.2
Appendix3.45
AtrioventricularNode2.6
BDCA4+_DentriticCells3.85
Bonemarrow40.95
BronchialEpithelialCells3.45
CD105+_Endothelial9.9
CD14+_Monocytes3.8
CD19+_BCells(neg._sel.)3.7
CD33+_Myeloid4.65
CD34+99
CD4+_Tcells3.8
CD56+_NKCells183.55
CD71+_EarlyErythroid3.3
CD8+_Tcells3.4
CardiacMyocytes4.45
Caudatenucleus143.3
Cerebellum54.4
CerebellumPeduncles42.65
CiliaryGanglion2.45
CingulateCortex33.95
Colorectaladenocarcinoma3.5
DorsalRootGanglion2.65
FetalThyroid3.35
Fetalbrain24.9
Fetalliver2.95
Fetallung2.9
GlobusPallidus11.7
Heart4.45
Hypothalamus142.35
Kidney2.8
Leukemia_chronicMyelogenousK-5623.15
Leukemia_promyelocytic-HL-603.1
Leukemialymphoblastic(MOLT-4)2.8
Liver4.55
Lung3.85
Lymphnode3.05
Lymphoma_burkitts(Daudi)4.4
Lymphoma_burkitts(Raji)4.8
MedullaOblongata24.55
OccipitalLobe39.8
OlfactoryBulb11.2
Ovary2.3
Pancreas2.8
PancreaticIslet3.7
ParietalLobe9.65
Pituitary4.1
Placenta3.6
Pons16.8
PrefrontalCortex203.55
Prostate4.05
Salivarygland2.8
SkeletalMuscle4.05
Skin2.7
SmoothMuscle3.95
Spinalcord171.95
SubthalamicNucleus11.2
SuperiorCervicalGanglion3.95
TemporalLobe16.9
Testis3
TestisGermCell3.65
TestisIntersitial2.9
TestisLeydigCell3.45
TestisSeminiferousTubule2.95
Thalamus59.75
Thymus2.75
Thyroid4.35
Tongue3.4
Tonsil3.35
Trachea2.9
TrigeminalGanglion3.45
Uterus2.85
UterusCorpus3.1
WholeBlood3.85
Wholebrain105.9
colon3.5
pineal_day11.24
pineal_night7.06
retina80.8
small_intestine3.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10492_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 ± 0.59
Basal Forebrain3.82 ± 0.29
Basal Part of Pons2.83 ± 0.62
Cerebellar Cortex3.11 ± 0.6
Cerebellar Nuclei3.06 ± 0.75
Claustrum3.79 ± 0.96
Epithalamus4.67 ± 0.67
Frontal Lobe3.42 ± 0.68
Globus Pallidus4.99 ± 0.37
Hypothalamus3.82 ± 0.58
Insula3.68 ± 0.57
Limbic Lobe3.37 ± 0.84
Mesencephalon3.84 ± 0.68
Myelencephalon3.65 ± 0.76
Occipital Lobe3.54 ± 0.78
Parietal Lobe3.54 ± 0.82
Pontine Tegmentum3.64 ± 0.66
Striatum4.21 ± 0.52
Subthalamus3.04 ± 0.51
Temporal Lobe3.49 ± 0.68
Thalamus3.8 ± 0.55
White Matter2.62 ± 0.78
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mlc1CBCerebellum45.33
69.68
Mlc1CTXCerebral cortex47.47
35.93
Mlc1HIPHippocampal region59.19
45.57
Mlc1HPFHippocampal formation66.44
47.29
Mlc1HYHypothalamus91.6
57.66
Mlc1LSXLateral septal complex72.76
50.35
Mlc1MBMidbrain36.23
24.97
Mlc1MYMedulla67.29
52.98
Mlc1OLFOlfactory bulb99.14
67.98
Mlc1PPons50.83
38.78
Mlc1PALPallidum41.07
27.72
Mlc1RHPRetrohippocampal region81.66
50.58
Mlc1sAMYStriatum-like amygdalar nuclei42.43
33.25
Mlc1STRStriatum42.16
36.11
Mlc1STRdStriatum dorsal region37.41
39.09
Mlc1STRvStriatum ventral region44.26
21.76
Mlc1THThalamus27.11
19.74
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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