AutismKB 2.0

Annotation Detail for LRRC40


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Basic Information Top
Gene Symbol:LRRC40 ( FLJ20331,dJ677H15.1 )
Gene Full Name: leucine rich repeat containing 40
Band: 1p31.1
Quick LinksEntrez ID:55631; OMIM: NA; Uniprot ID:LRC40_HUMAN; ENSEMBL ID: ENSG00000066557; HGNC ID: 26004
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
blastocyst1 / 6231916
fetus27 / 56401247
neonate6 / 31097192
infant3 / 23620127
juvenile3 / 5555653
adult56 / 193912128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor27 / 263845102
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia6 / 9584262
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal107 / 336030731
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood7 / 12347856
bone2 / 7165527
bone marrow0 / 488010 
brain46 / 110098941
cervix1 / 4817120
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine5 / 23447221
kidney5 / 21177723
larynx0 / 241450 
liver7 / 20774333
lung7 / 33697420
lymph1 / 4427022
lymph node3 / 9161032
mammary gland1 / 1532716
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta12 / 28082542
prostate1 / 1893455
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis23 / 33044269
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord4 / 13680292
uterus8 / 23287834
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218577_at
Cell line Expression level Expression bar
721_B_lymphoblasts260
Adipocyte12.6
AdrenalCortex16.35
Adrenalgland10.6
Amygdala113.25
Appendix16.3
AtrioventricularNode13.1
BDCA4+_DentriticCells49.55
Bonemarrow14.1
BronchialEpithelialCells101.8
CD105+_Endothelial159.8
CD14+_Monocytes21
CD19+_BCells(neg._sel.)34.1
CD33+_Myeloid77.15
CD34+117.6
CD4+_Tcells38.8
CD56+_NKCells40.15
CD71+_EarlyErythroid32.45
CD8+_Tcells72
CardiacMyocytes25.5
Caudatenucleus12.9
Cerebellum11.6
CerebellumPeduncles16.55
CiliaryGanglion12.05
CingulateCortex16.1
Colorectaladenocarcinoma14.6
DorsalRootGanglion13.45
FetalThyroid14.35
Fetalbrain188.9
Fetalliver36.3
Fetallung11.45
GlobusPallidus11.45
Heart20.15
Hypothalamus37.65
Kidney11.5
Leukemia_chronicMyelogenousK-56231.6
Leukemia_promyelocytic-HL-6072.75
Leukemialymphoblastic(MOLT-4)62.25
Liver19.95
Lung12.35
Lymphnode15.35
Lymphoma_burkitts(Daudi)21.45
Lymphoma_burkitts(Raji)60.15
MedullaOblongata15.3
OccipitalLobe23.6
OlfactoryBulb10.45
Ovary10.6
Pancreas11.35
PancreaticIslet16.45
ParietalLobe15.3
Pituitary16.85
Placenta8.15
Pons15.1
PrefrontalCortex74.9
Prostate16.3
Salivarygland11.1
SkeletalMuscle21.35
Skin12.45
SmoothMuscle27.95
Spinalcord17.95
SubthalamicNucleus14.6
SuperiorCervicalGanglion19.9
TemporalLobe14.7
Testis9.55
TestisGermCell12
TestisIntersitial16.2
TestisLeydigCell15.35
TestisSeminiferousTubule9.7
Thalamus14.65
Thymus9.25
Thyroid28.9
Tongue16.5
Tonsil13.85
Trachea11.95
TrigeminalGanglion30.1
Uterus37.15
UterusCorpus14.05
WholeBlood35.75
Wholebrain18.65
colon53.2
pineal_day38.02
pineal_night32.64
retina18.15
small_intestine78.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1407_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
Amygdala5.86 ± 0.27
Basal Forebrain5.75 ± 0.25
Basal Part of Pons5.69 ± 0.27
Cerebellar Cortex6.13 ± 0.25
Cerebellar Nuclei5.41 ± 0.62
Claustrum6.02 ± 0.53
Epithalamus5.87 ± 0.3
Frontal Lobe5.78 ± 0.35
Globus Pallidus5.21 ± 0.25
Hypothalamus5.92 ± 0.48
Insula5.9 ± 0.4
Limbic Lobe5.94 ± 0.38
Mesencephalon5.87 ± 0.41
Myelencephalon5.76 ± 0.46
Occipital Lobe6.03 ± 0.31
Parietal Lobe5.84 ± 0.41
Pontine Tegmentum5.82 ± 0.45
Striatum5.39 ± 0.42
Subthalamus5.72 ± 0.69
Temporal Lobe5.84 ± 0.35
Thalamus5.77 ± 0.3
White Matter6.04 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Lrrc40CBCerebellum0.09
0.27
Lrrc40CTXCerebral cortex0.22
0.7
Lrrc40HIPHippocampal region0.24
0.23
Lrrc40HPFHippocampal formation0.2
0.16
Lrrc40HYHypothalamus3.72
7.46
Lrrc40LSXLateral septal complex0.07
0.94
Lrrc40MBMidbrain0.32
1.57
Lrrc40MYMedulla0.02
0.02
Lrrc40OLFOlfactory bulb1.25
1.58
Lrrc40PPons0.82
3.2
Lrrc40PALPallidum0.68
2.91
Lrrc40RHPRetrohippocampal region0.13
0.08
Lrrc40sAMYStriatum-like amygdalar nuclei0.11
0.23
Lrrc40STRStriatum0.07
0.16
Lrrc40STRdStriatum dorsal region0.06
0.06
Lrrc40STRvStriatum ventral region0.14
0.17
Lrrc40THThalamus0.15
0.42
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00499006 23 103 125 LLPALTVLDIHDNQLTSLPSAIR Peptide Atlas

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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