AutismKB 2.0

Annotation Detail for MUC1


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Basic Information Top
Gene Symbol:MUC1 ( CD227,EMA,H23AG,KL-6,MAM6,PEM,PEMT,PUM )
Gene Full Name: mucin 1, cell surface associated
Band: 1q22
Quick LinksEntrez ID:4582; OMIM: 158340; Uniprot ID:MUC1_HUMAN; ENSEMBL ID: ENSG00000185499; HGNC ID: 7508
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 body1 / 7076114
blastocyst0 / 623190 
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult193 / 193912199
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) tumor19 / 94178201
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor30 / 114246262
esophageal tumor1 / 1729057
gastrointestinal tumor56 / 119369469
germ cell tumor1 / 2638453
glioma3 / 10688328
head and neck tumor9 / 13630266
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor9 / 10312787
lymphoma0 / 717550 
non-neoplasia12 / 97250123
normal93 / 336030727
ovarian tumor8 / 76682104
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer18 / 102680175
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites10 / 40015249
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain4 / 11009893
cervix1 / 4817120
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus1 / 2020949
eye5 / 21105423
heart0 / 896260 
intestine41 / 234472174
kidney8 / 21177737
larynx0 / 241450 
liver10 / 20774348
lung35 / 336974103
lymph0 / 442700 
lymph node0 / 916100 
mammary gland32 / 153271208
mouth9 / 67052134
muscle1 / 1077159
nerve1 / 1576863
ovary9 / 10205188
pancreas17 / 21481279
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta7 / 28082524
prostate23 / 189345121
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach56 / 96619579
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus21 / 23287890
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207847_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.55
Adipocyte7.05
AdrenalCortex8.65
Adrenalgland6.45
Amygdala7.65
Appendix8.15
AtrioventricularNode8.25
BDCA4+_DentriticCells7.2
Bonemarrow7.8
BronchialEpithelialCells7.25
CD105+_Endothelial11
CD14+_Monocytes7.6
CD19+_BCells(neg._sel.)7.5
CD33+_Myeloid9
CD34+15.3
CD4+_Tcells7.15
CD56+_NKCells8.35
CD71+_EarlyErythroid7.1
CD8+_Tcells6.55
CardiacMyocytes11.9
Caudatenucleus6.5
Cerebellum5.9
CerebellumPeduncles8.45
CiliaryGanglion5.9
CingulateCortex8.1
Colorectaladenocarcinoma7.5
DorsalRootGanglion6.85
FetalThyroid9.15
Fetalbrain7.05
Fetalliver6.3
Fetallung232.9
GlobusPallidus5.6
Heart11.3
Hypothalamus7.7
Kidney63.25
Leukemia_chronicMyelogenousK-5626.65
Leukemia_promyelocytic-HL-606.3
Leukemialymphoblastic(MOLT-4)5.6
Liver10.6
Lung1126.1
Lymphnode6.4
Lymphoma_burkitts(Daudi)9.55
Lymphoma_burkitts(Raji)11.1
MedullaOblongata6.75
OccipitalLobe6.55
OlfactoryBulb5.6
Ovary5.35
Pancreas20.45
PancreaticIslet27.25
ParietalLobe8
Pituitary8.5
Placenta20.55
Pons7.2
PrefrontalCortex8.9
Prostate8.75
Salivarygland6.7
SkeletalMuscle16.85
Skin15.85
SmoothMuscle8.05
Spinalcord7.65
SubthalamicNucleus7.4
SuperiorCervicalGanglion19.05
TemporalLobe6.75
Testis8.05
TestisGermCell22.15
TestisIntersitial11.85
TestisLeydigCell15.85
TestisSeminiferousTubule12.35
Thalamus7.45
Thymus5.6
Thyroid11.1
Tongue7.75
Tonsil7.55
Trachea22.2
TrigeminalGanglion8.4
Uterus8.65
UterusCorpus18.15
WholeBlood8.15
Wholebrain5.9
colon120.3
pineal_day8.98
pineal_night8.52
retina8.9
small_intestine7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16859_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
Amygdala2.46 ± 1.01
Basal Forebrain2.25 ± 0.46
Basal Part of Pons1.63 ± 0.32
Cerebellar Cortex2 ± 0.79
Cerebellar Nuclei2.34 ± 0.77
Claustrum2.9 ± 0.89
Epithalamus1.69 ± 0.83
Frontal Lobe1.88 ± 0.72
Globus Pallidus2.38 ± 0.32
Hypothalamus1.97 ± 0.65
Insula1.9 ± 0.68
Limbic Lobe2 ± 0.68
Mesencephalon2.13 ± 0.65
Myelencephalon2.02 ± 0.69
Occipital Lobe2.08 ± 0.65
Parietal Lobe1.98 ± 0.79
Pontine Tegmentum2.11 ± 0.91
Striatum2.2 ± 0.7
Subthalamus2.21 ± 0.78
Temporal Lobe1.89 ± 0.62
Thalamus2 ± 0.73
White Matter2.43 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Muc1CBCerebellum0.14
0.37
Muc1CTXCerebral cortex3.75
2.89
Muc1HIPHippocampal region2.48
2.34
Muc1HPFHippocampal formation1.76
1.68
Muc1HYHypothalamus0.28
0.26
Muc1LSXLateral septal complex0.38
0.31
Muc1MBMidbrain0.09
0.25
Muc1MYMedulla0.03
0.32
Muc1OLFOlfactory bulb3.05
3.89
Muc1PPons0.14
0.24
Muc1PALPallidum0.52
0.44
Muc1RHPRetrohippocampal region0.18
0.53
Muc1sAMYStriatum-like amygdalar nuclei0.85
0.54
Muc1STRStriatum1.46
1.38
Muc1STRdStriatum dorsal region2.03
2.03
Muc1STRvStriatum ventral region0.47
0.32
Muc1THThalamus0.67
0.59
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00803527 11 90 100 DISEMFLQIYK 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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