AutismKB 2.0

Annotation Detail for LRRC48


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Basic Information Top
Gene Symbol:LRRC48 ( DKFZp586M1120 )
Gene Full Name: leucine rich repeat containing 48
Band: 17p11.2
Quick LinksEntrez ID:83450; OMIM: NA; Uniprot ID:LRC48_HUMAN; ENSEMBL ID: ENSG00000171962; 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 body0 / 707610 
blastocyst0 / 623190 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult30 / 193912115
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal54 / 336030716
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain15 / 110098913
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye13 / 21105461
heart1 / 8962611
intestine1 / 2344724
kidney3 / 21177714
larynx1 / 2414541
liver2 / 2077439
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis15 / 33044245
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208140_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.9
Adipocyte7.55
AdrenalCortex8
Adrenalgland7.1
Amygdala8.2
Appendix8.1
AtrioventricularNode5.95
BDCA4+_DentriticCells8.1
Bonemarrow7.65
BronchialEpithelialCells7.75
CD105+_Endothelial7.55
CD14+_Monocytes8
CD19+_BCells(neg._sel.)7.95
CD33+_Myeloid9.9
CD34+9.6
CD4+_Tcells8.2
CD56+_NKCells8.85
CD71+_EarlyErythroid7.35
CD8+_Tcells6.9
CardiacMyocytes10.45
Caudatenucleus7.55
Cerebellum6.3
CerebellumPeduncles8.8
CiliaryGanglion5.7
CingulateCortex8.05
Colorectaladenocarcinoma7.65
DorsalRootGanglion5.8
FetalThyroid7.9
Fetalbrain7.85
Fetalliver6.65
Fetallung6.55
GlobusPallidus5.7
Heart10.15
Hypothalamus8.65
Kidney6.55
Leukemia_chronicMyelogenousK-5626.65
Leukemia_promyelocytic-HL-606.65
Leukemialymphoblastic(MOLT-4)6.15
Liver10.1
Lung8.7
Lymphnode6.95
Lymphoma_burkitts(Daudi)9.65
Lymphoma_burkitts(Raji)10.8
MedullaOblongata7.5
OccipitalLobe7
OlfactoryBulb6.15
Ovary5.05
Pancreas6.2
PancreaticIslet8.15
ParietalLobe11.4
Pituitary13.4
Placenta7.3
Pons9.75
PrefrontalCortex9.4
Prostate8.5
Salivarygland7
SkeletalMuscle14.9
Skin5.85
SmoothMuscle8.65
Spinalcord9.3
SubthalamicNucleus7.05
SuperiorCervicalGanglion9
TemporalLobe8.1
Testis6.75
TestisGermCell7.25
TestisIntersitial10.85
TestisLeydigCell7.9
TestisSeminiferousTubule10.15
Thalamus7.9
Thymus6.05
Thyroid17.55
Tongue7.5
Tonsil7.5
Trachea9.25
TrigeminalGanglion7.65
Uterus8.3
UterusCorpus6.95
WholeBlood8.6
Wholebrain6.05
colon7.65
pineal_day10.62
pineal_night10.3
retina10.55
small_intestine6.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P270971
  • 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
Amygdala2.97 ± 1.04
Basal Forebrain2.63 ± 0.65
Basal Part of Pons2.82 ± 0.69
Cerebellar Cortex2.75 ± 0.54
Cerebellar Nuclei2.86 ± 0.67
Claustrum3.13 ± 0.77
Epithalamus6.03 ± 1.17
Frontal Lobe2.5 ± 0.96
Globus Pallidus2.91 ± 0.58
Hypothalamus3.13 ± 0.77
Insula2.82 ± 0.81
Limbic Lobe2.73 ± 0.81
Mesencephalon3.04 ± 0.9
Myelencephalon2.94 ± 1.04
Occipital Lobe3.62 ± 0.88
Parietal Lobe3.04 ± 0.85
Pontine Tegmentum2.67 ± 0.94
Striatum3.57 ± 1.71
Subthalamus2.59 ± 0.62
Temporal Lobe2.68 ± 0.91
Thalamus2.55 ± 0.64
White Matter2.16 ± 0.76
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Lrrc48CBCerebellum18.69
22.84
Lrrc48CTXCerebral cortex90.12
70.8
Lrrc48HIPHippocampal region48.5
54.89
Lrrc48HPFHippocampal formation57.59
54.99
Lrrc48HYHypothalamus59.29
45.87
Lrrc48LSXLateral septal complex74.94
69.51
Lrrc48MBMidbrain63.55
57.22
Lrrc48MYMedulla68.21
81.19
Lrrc48OLFOlfactory bulb92.02
79.41
Lrrc48PPons57.88
65.22
Lrrc48PALPallidum45.29
40.14
Lrrc48RHPRetrohippocampal region74.18
56.2
Lrrc48sAMYStriatum-like amygdalar nuclei57.18
40.68
Lrrc48STRStriatum45.1
32.93
Lrrc48STRdStriatum dorsal region30.12
20.5
Lrrc48STRvStriatum ventral region79.43
55.75
Lrrc48THThalamus56.37
50.03
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
LRC48_HUMAN_114 7 114 120 LSLFNNR PRIDE

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