AutismKB 2.0

Annotation Detail for MCAM


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Basic Information Top
Gene Symbol:MCAM ( CD146,MUC18 )
Gene Full Name: melanoma cell adhesion molecule
Band: 11q23.3
Quick LinksEntrez ID:4162; OMIM: 155735; Uniprot ID:MUC18_HUMAN; ENSEMBL ID: ENSG00000076706; HGNC ID: 6934
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 body9 / 70761127
blastocyst4 / 6231964
fetus60 / 564012106
neonate21 / 31097675
infant3 / 23620127
juvenile7 / 55556125
adult273 / 1939121140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor18 / 94178191
cervical tumor18 / 34366523
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor41 / 263845155
glioma7 / 10688365
head and neck tumor26 / 136302190
kidney tumor9 / 68959130
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor16 / 103127155
lymphoma1 / 7175513
non-neoplasia14 / 97250143
normal756 / 3360307224
ovarian tumor9 / 76682117
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer3 / 10268029
retinoblastoma4 / 4635686
skin tumor24 / 124949192
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland15 / 33197451
ascites0 / 400150 
bladder2 / 2975767
blood1 / 1234788
bone5 / 7165569
bone marrow1 / 4880120
brain262 / 1100989237
cervix20 / 48171415
connective tissue15 / 149255100
ear2 / 16212123
embryonic tissue21 / 21572297
esophagus3 / 20209148
eye15 / 21105471
heart14 / 89626156
intestine31 / 234472132
kidney37 / 211777174
larynx1 / 2414541
liver11 / 20774352
lung64 / 336974189
lymph0 / 442700 
lymph node1 / 9161010
mammary gland23 / 153271150
mouth39 / 67052581
muscle6 / 10771555
nerve4 / 15768253
ovary8 / 10205178
pancreas13 / 21481260
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta78 / 280825277
prostate22 / 189345116
salivary gland0 / 201550 
skin39 / 210574185
spleen17 / 53952315
stomach26 / 96619269
testis29 / 33044287
thymus41 / 81131505
thyroid4 / 4747384
tonsil0 / 169990 
trachea27 / 52413515
umbilical cord22 / 136801608
uterus72 / 232878309
vascular137 / 517802645
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209086_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.2
Adipocyte31.25
AdrenalCortex7.5
Adrenalgland6.8
Amygdala7.65
Appendix10.5
AtrioventricularNode5.3
BDCA4+_DentriticCells3.45
Bonemarrow7.05
BronchialEpithelialCells10.45
CD105+_Endothelial3
CD14+_Monocytes7.65
CD19+_BCells(neg._sel.)3.5
CD33+_Myeloid9.2
CD34+4.9
CD4+_Tcells4.95
CD56+_NKCells6.5
CD71+_EarlyErythroid6.65
CD8+_Tcells2.4
CardiacMyocytes8.85
Caudatenucleus7.9
Cerebellum9.6
CerebellumPeduncles12.55
CiliaryGanglion4.95
CingulateCortex7.3
Colorectaladenocarcinoma8.55
DorsalRootGanglion5.4
FetalThyroid6.95
Fetalbrain7.2
Fetalliver6.15
Fetallung11.4
GlobusPallidus5.15
Heart13.95
Hypothalamus8.2
Kidney6
Leukemia_chronicMyelogenousK-5626.5
Leukemia_promyelocytic-HL-606.3
Leukemialymphoblastic(MOLT-4)5.8
Liver9.4
Lung17.95
Lymphnode6.4
Lymphoma_burkitts(Daudi)9.1
Lymphoma_burkitts(Raji)9.85
MedullaOblongata7.1
OccipitalLobe6.5
OlfactoryBulb7.65
Ovary6.55
Pancreas6.7
PancreaticIslet7.75
ParietalLobe7.5
Pituitary8.5
Placenta13.65
Pons6.85
PrefrontalCortex9.15
Prostate8.55
Salivarygland5.75
SkeletalMuscle7.9
Skin5.3
SmoothMuscle8.15
Spinalcord8.85
SubthalamicNucleus6.45
SuperiorCervicalGanglion7.9
TemporalLobe6.5
Testis6.3
TestisGermCell6.1
TestisIntersitial6
TestisLeydigCell7.1
TestisSeminiferousTubule6.2
Thalamus7.4
Thymus5.85
Thyroid9.15
Tongue6.85
Tonsil7
Trachea6.3
TrigeminalGanglion6.9
Uterus8.05
UterusCorpus7.5
WholeBlood7.95
Wholebrain6.2
colon7.2
pineal_day8.22
pineal_night7.9
retina9.25
small_intestine7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P326660
  • 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
Amygdala5.79 ± 0.24
Basal Forebrain7.02 ± 0.53
Basal Part of Pons6.87 ± 0.29
Cerebellar Cortex7.21 ± 0.39
Cerebellar Nuclei6.89 ± 0.33
Claustrum5.3 ± 0.65
Epithalamus6.26 ± 0.91
Frontal Lobe6.35 ± 0.82
Globus Pallidus7 ± 0.99
Hypothalamus6.76 ± 0.29
Insula6.01 ± 0.53
Limbic Lobe5.88 ± 0.81
Mesencephalon6.57 ± 0.93
Myelencephalon6.49 ± 0.67
Occipital Lobe6.26 ± 0.79
Parietal Lobe6.06 ± 0.81
Pontine Tegmentum6.42 ± 0.77
Striatum7.01 ± 1.24
Subthalamus5.84 ± 0.88
Temporal Lobe6.08 ± 0.57
Thalamus7.06 ± 0.59
White Matter7.97 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
McamCBCerebellum53.04
68.41
McamCTXCerebral cortex34.93
27.2
McamHIPHippocampal region32.07
35
McamHPFHippocampal formation37.49
36.44
McamHYHypothalamus45.65
35.84
McamLSXLateral septal complex34.68
27.32
McamMBMidbrain64.46
58.51
McamMYMedulla62.76
67.98
McamOLFOlfactory bulb43.48
37.83
McamPPons73.55
74.98
McamPALPallidum53.79
44.34
McamRHPRetrohippocampal region43.13
35.86
McamsAMYStriatum-like amygdalar nuclei47.7
36.32
McamSTRStriatum39.48
30.75
McamSTRdStriatum dorsal region39.36
31.78
McamSTRvStriatum ventral region37.67
26.3
McamTHThalamus50.19
44.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MUC18_HUMAN_229 8 229 236 LPSGNHMK PRIDE
PAp00009294 30 135 164 APEEPNIQVNPLGIPVNSKEPEEVATCVGR 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