AutismKB 2.0

Annotation Detail for L1CAM


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Basic Information Top
Gene Symbol:L1CAM ( CAML1,CD171,HSAS,HSAS1,MASA,MIC5,N-CAML1,S10,SPG1 )
Gene Full Name: L1 cell adhesion molecule
Band: Xq28
Quick LinksEntrez ID:3897; OMIM: 308840; Uniprot ID:L1CAM_HUMAN; ENSEMBL ID: ENSG00000198910; HGNC ID: 6470
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
blastocyst3 / 6231948
fetus50 / 56401288
neonate0 / 310970 
infant2 / 2362084
juvenile5 / 5555689
adult43 / 193912122
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 tumor3 / 3436687
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma19 / 106883177
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor5 / 9635951
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal176 / 336030752
ovarian tumor7 / 7668291
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS27 / 125680214
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain184 / 1100989167
cervix9 / 48171186
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine6 / 23447225
kidney4 / 21177718
larynx1 / 2414541
liver5 / 20774324
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve5 / 15768317
ovary7 / 10205168
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach0 / 966190 
testis7 / 33044221
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204585_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.75
Adipocyte3.75
AdrenalCortex3.8
Adrenalgland4.75
Amygdala4.1
Appendix3.6
AtrioventricularNode2.75
BDCA4+_DentriticCells4.05
Bonemarrow3.65
BronchialEpithelialCells3.75
CD105+_Endothelial3.65
CD14+_Monocytes4
CD19+_BCells(neg._sel.)4.05
CD33+_Myeloid4.55
CD34+4.6
CD4+_Tcells4.2
CD56+_NKCells4.45
CD71+_EarlyErythroid3.5
CD8+_Tcells3.65
CardiacMyocytes4.7
Caudatenucleus4.75
Cerebellum4.65
CerebellumPeduncles4.3
CiliaryGanglion2.55
CingulateCortex3.9
Colorectaladenocarcinoma3.8
DorsalRootGanglion2.75
FetalThyroid3.65
Fetalbrain3.8
Fetalliver3.3
Fetallung3.25
GlobusPallidus3.75
Heart4.8
Hypothalamus4.2
Kidney4.8
Leukemia_chronicMyelogenousK-5623.45
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)3.1
Liver4.95
Lung4.25
Lymphnode3.3
Lymphoma_burkitts(Daudi)4.8
Lymphoma_burkitts(Raji)5.15
MedullaOblongata3.5
OccipitalLobe4.2
OlfactoryBulb3
Ovary2.8
Pancreas3
PancreaticIslet4
ParietalLobe3.95
Pituitary4.45
Placenta3.95
Pons3.6
PrefrontalCortex5.1
Prostate4.4
Salivarygland3
SkeletalMuscle4.15
Skin2.75
SmoothMuscle4.1
Spinalcord4.2
SubthalamicNucleus3.35
SuperiorCervicalGanglion4.1
TemporalLobe3.4
Testis3.3
TestisGermCell3.1
TestisIntersitial3.1
TestisLeydigCell3.7
TestisSeminiferousTubule3.25
Thalamus6.2
Thymus3.05
Thyroid4.85
Tongue3.65
Tonsil3.7
Trachea3.2
TrigeminalGanglion3.65
Uterus3.15
UterusCorpus3.3
WholeBlood4.2
Wholebrain3.35
colon3.8
pineal_day4.6
pineal_night4.6
retina4.625
small_intestine3.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P171324
  • 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
Amygdala7.08 ± 0.54
Basal Forebrain6.37 ± 0.35
Basal Part of Pons7 ± 0.38
Cerebellar Cortex6.34 ± 0.47
Cerebellar Nuclei5.7 ± 0.54
Claustrum7.44 ± 0.69
Epithalamus5.15 ± 0.79
Frontal Lobe6.22 ± 0.63
Globus Pallidus5.57 ± 0.41
Hypothalamus6.53 ± 0.49
Insula6.33 ± 0.55
Limbic Lobe6.86 ± 0.66
Mesencephalon6.42 ± 0.73
Myelencephalon6.46 ± 0.7
Occipital Lobe6.79 ± 0.68
Parietal Lobe6.51 ± 0.72
Pontine Tegmentum6.13 ± 0.77
Striatum6.6 ± 0.61
Subthalamus5.88 ± 0.3
Temporal Lobe6.41 ± 0.61
Thalamus6.38 ± 0.48
White Matter3.82 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
L1camCBCerebellum7.93
7.59
L1camCTXCerebral cortex16.99
12.61
L1camHIPHippocampal region36.3
30.08
L1camHPFHippocampal formation37.68
31.64
L1camHYHypothalamus30.01
20.78
L1camLSXLateral septal complex7.29
4.61
L1camMBMidbrain18.38
16.09
L1camMYMedulla18.62
20.18
L1camOLFOlfactory bulb37.77
28.89
L1camPPons27.84
26.19
L1camPALPallidum15.63
14.42
L1camRHPRetrohippocampal region38.3
31.69
L1camsAMYStriatum-like amygdalar nuclei24.46
15.84
L1camSTRStriatum7.93
5.61
L1camSTRdStriatum dorsal region4.11
3.39
L1camSTRvStriatum ventral region12.9
7.78
L1camTHThalamus65.32
59.09
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009431 12 52 63 CEASGKPEVQFR 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