AutismKB 2.0

Annotation Detail for LARGE


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:LARGE ( KIAA0609,MDC1D )
Gene Full Name: like-glycosyltransferase
Band: 22q12.3
Quick LinksEntrez ID:9215; OMIM: 603590; Uniprot ID:LARGE_HUMAN; ENSEMBL ID: ENSG00000133424; HGNC ID:
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 body3 / 7076142
blastocyst0 / 623190 
fetus23 / 56401240
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult37 / 193912119
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal107 / 336030731
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain43 / 110098939
cervix0 / 481710 
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye12 / 21105456
heart3 / 8962633
intestine2 / 2344728
kidney3 / 21177714
larynx0 / 241450 
liver7 / 20774333
lung22 / 33697465
lymph0 / 442700 
lymph node6 / 9161065
mammary gland5 / 15327132
mouth0 / 670520 
muscle5 / 10771546
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin6 / 21057428
spleen2 / 5395237
stomach0 / 966190 
testis12 / 33044236
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215543_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.9
Adipocyte3.95
AdrenalCortex4.05
Adrenalgland3.3
Amygdala5.1
Appendix3.9
AtrioventricularNode2.9
BDCA4+_DentriticCells4.05
Bonemarrow3.85
BronchialEpithelialCells3.7
CD105+_Endothelial3.8
CD14+_Monocytes4.15
CD19+_BCells(neg._sel.)5.4
CD33+_Myeloid4.85
CD34+4.7
CD4+_Tcells4.05
CD56+_NKCells4.35
CD71+_EarlyErythroid3.6
CD8+_Tcells3.6
CardiacMyocytes4.75
Caudatenucleus10.8
Cerebellum7.4
CerebellumPeduncles4.4
CiliaryGanglion2.7
CingulateCortex5.4
Colorectaladenocarcinoma3.8
DorsalRootGanglion2.95
FetalThyroid3.8
Fetalbrain5.15
Fetalliver3.35
Fetallung3.3
GlobusPallidus3.5
Heart5.15
Hypothalamus4.65
Kidney3.15
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.45
Leukemialymphoblastic(MOLT-4)3.1
Liver5.1
Lung4.3
Lymphnode3.35
Lymphoma_burkitts(Daudi)6.2
Lymphoma_burkitts(Raji)5.4
MedullaOblongata4.2
OccipitalLobe5.7
OlfactoryBulb3.25
Ovary2.6
Pancreas3.1
PancreaticIslet4.15
ParietalLobe4.2
Pituitary4.7
Placenta3.85
Pons6.3
PrefrontalCortex5
Prostate4.55
Salivarygland3.1
SkeletalMuscle4.45
Skin2.95
SmoothMuscle4.3
Spinalcord4.2
SubthalamicNucleus4.4
SuperiorCervicalGanglion4.7
TemporalLobe3.65
Testis3.5
TestisGermCell3.3
TestisIntersitial3.25
TestisLeydigCell3.85
TestisSeminiferousTubule3.4
Thalamus4
Thymus3.15
Thyroid4.9
Tongue3.75
Tonsil3.8
Trachea3.3
TrigeminalGanglion3.9
Uterus3.25
UterusCorpus4
WholeBlood4.25
Wholebrain6.35
colon3.95
pineal_day4.9
pineal_night4.78
retina4.775
small_intestine3.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14029_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
Amygdala6.78 ± 0.54
Basal Forebrain6.03 ± 0.43
Basal Part of Pons5.62 ± 0.47
Cerebellar Cortex5.93 ± 0.28
Cerebellar Nuclei5.92 ± 0.43
Claustrum7.06 ± 0.6
Epithalamus5.33 ± 0.33
Frontal Lobe6.26 ± 0.6
Globus Pallidus5.09 ± 0.56
Hypothalamus5.78 ± 0.55
Insula6.22 ± 0.32
Limbic Lobe6.97 ± 0.48
Mesencephalon6.28 ± 0.54
Myelencephalon6.28 ± 0.58
Occipital Lobe6.31 ± 0.46
Parietal Lobe6.27 ± 0.66
Pontine Tegmentum6.36 ± 0.5
Striatum7.07 ± 0.44
Subthalamus6.58 ± 0.25
Temporal Lobe6.39 ± 0.47
Thalamus5.8 ± 0.49
White Matter4.49 ± 1.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
LargeCBCerebellum10.18
42.93
LargeCTXCerebral cortex50
50
LargeHIPHippocampal region38.95
50
LargeHPFHippocampal formation42.11
50
LargeHYHypothalamus6.32
5.76
LargeLSXLateral septal complex5.81
4.7
LargeMBMidbrain11.2
12.08
LargeMYMedulla16.47
21.75
LargeOLFOlfactory bulb47.07
50
LargePPons7.77
9.51
LargePALPallidum10.43
11.52
LargeRHPRetrohippocampal region46.17
50
LargesAMYStriatum-like amygdalar nuclei15.54
14.62
LargeSTRStriatum12.85
11.16
LargeSTRdStriatum dorsal region13.52
11.39
LargeSTRvStriatum ventral region11.19
10.49
LargeTHThalamus9.55
9.92
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved