AutismKB 2.0

Annotation Detail for LAMC1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:LAMC1 ( LAMB2,MGC87297 )
Gene Full Name: laminin, gamma 1 (formerly LAMB2)
Band: 1q25.3
Quick LinksEntrez ID:3915; OMIM: 150290; Uniprot ID:LAMC1_HUMAN; ENSEMBL ID: ENSG00000135862; HGNC ID: 6492
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 body20 / 70761282
blastocyst19 / 62319304
fetus54 / 56401295
neonate4 / 31097128
infant1 / 2362042
juvenile2 / 5555635
adult262 / 1939121135
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma3 / 17475171
breast (mammary gland) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma20 / 82823241
colorectal tumor7 / 11424661
esophageal tumor3 / 17290173
gastrointestinal tumor19 / 119369159
germ cell tumor27 / 263845102
glioma9 / 10688384
head and neck tumor15 / 136302110
kidney tumor14 / 68959203
leukemia4 / 9584241
liver tumor6 / 9635962
lung tumor6 / 10312758
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal312 / 336030792
ovarian tumor12 / 76682156
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer47 / 102680457
retinoblastoma1 / 4635621
skin tumor23 / 124949184
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland3 / 3319790
ascites4 / 4001599
bladder5 / 29757168
blood1 / 1234788
bone15 / 71655209
bone marrow11 / 48801225
brain30 / 110098927
cervix2 / 4817141
connective tissue29 / 149255194
ear6 / 16212370
embryonic tissue50 / 215722231
esophagus3 / 20209148
eye14 / 21105466
heart20 / 89626223
intestine21 / 23447289
kidney19 / 21177789
larynx3 / 24145124
liver11 / 20774352
lung33 / 33697497
lymph0 / 442700 
lymph node6 / 9161065
mammary gland25 / 153271163
mouth2 / 6705229
muscle11 / 107715102
nerve6 / 15768380
ovary19 / 102051186
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta30 / 280825106
prostate53 / 189345279
salivary gland0 / 201550 
skin38 / 210574180
spleen1 / 5395218
stomach18 / 96619186
testis21 / 33044263
thymus0 / 811310 
thyroid10 / 47473210
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord4 / 13680292
uterus28 / 232878120
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200770_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts65.1
Adipocyte1438.85
AdrenalCortex26.45
Adrenalgland27.05
Amygdala22
Appendix29.15
AtrioventricularNode23.2
BDCA4+_DentriticCells28.75
Bonemarrow20.2
BronchialEpithelialCells180.7
CD105+_Endothelial15.45
CD14+_Monocytes10.35
CD19+_BCells(neg._sel.)21.05
CD33+_Myeloid18.8
CD34+21.4
CD4+_Tcells15.85
CD56+_NKCells10.1
CD71+_EarlyErythroid12.75
CD8+_Tcells9.55
CardiacMyocytes607.5
Caudatenucleus14.7
Cerebellum21.2
CerebellumPeduncles27
CiliaryGanglion16.7
CingulateCortex23.25
Colorectaladenocarcinoma26.6
DorsalRootGanglion35.5
FetalThyroid51.3
Fetalbrain14.6
Fetalliver20.25
Fetallung85.65
GlobusPallidus17.35
Heart36.3
Hypothalamus23.85
Kidney20.7
Leukemia_chronicMyelogenousK-56218.6
Leukemia_promyelocytic-HL-6024.65
Leukemialymphoblastic(MOLT-4)16.45
Liver31.3
Lung26.15
Lymphnode24.3
Lymphoma_burkitts(Daudi)30.25
Lymphoma_burkitts(Raji)60.7
MedullaOblongata25.75
OccipitalLobe10.25
OlfactoryBulb80.1
Ovary22.9
Pancreas36.4
PancreaticIslet81.85
ParietalLobe24.4
Pituitary41.3
Placenta307.7
Pons20.55
PrefrontalCortex23.1
Prostate36.7
Salivarygland18.95
SkeletalMuscle29.35
Skin20.45
SmoothMuscle810.95
Spinalcord28
SubthalamicNucleus21.05
SuperiorCervicalGanglion21.35
TemporalLobe21.05
Testis22.15
TestisGermCell32.7
TestisIntersitial39.35
TestisLeydigCell33.6
TestisSeminiferousTubule33.5
Thalamus23.7
Thymus19.25
Thyroid30.8
Tongue27.55
Tonsil22.25
Trachea52
TrigeminalGanglion29.95
Uterus23.3
UterusCorpus23.4
WholeBlood25.65
Wholebrain16.35
colon27.4
pineal_day23.46
pineal_night26.5
retina30.225
small_intestine42.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11955_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
Amygdala5.18 ± 0.38
Basal Forebrain5.1 ± 0.25
Basal Part of Pons5.13 ± 0.33
Cerebellar Cortex5.55 ± 0.24
Cerebellar Nuclei5.11 ± 0.54
Claustrum4.84 ± 0.61
Epithalamus5.39 ± 0.33
Frontal Lobe5.15 ± 0.42
Globus Pallidus5.64 ± 0.5
Hypothalamus5 ± 0.71
Insula5.17 ± 0.34
Limbic Lobe5.2 ± 0.38
Mesencephalon5.26 ± 0.49
Myelencephalon5.26 ± 0.45
Occipital Lobe5.43 ± 0.37
Parietal Lobe5.15 ± 0.37
Pontine Tegmentum5.19 ± 0.42
Striatum5.5 ± 0.49
Subthalamus4.96 ± 0.38
Temporal Lobe5.13 ± 0.35
Thalamus5.28 ± 0.42
White Matter4.72 ± 0.77
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
LAMC1_HUMAN_1121 14 1121 1134 NTIEETGNLAEQAR PRIDE
LAMC1_HUMAN_1450 17 1450 1466 TFAEVTDLDNEVNNMLK PRIDE
LAMC1_HUMAN_590 14 590 603 LSAEDLVLEGAGLR PRIDE
PAp00000884 16 935 950 CDCHALGSTNGQCDIR 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