AutismKB 2.0

Annotation Detail for CUBN


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Basic Information Top
Gene Symbol:CUBN ( FLJ90055,FLJ90747,IFCR,MGA1,gp280 )
Gene Full Name: cubilin (intrinsic factor-cobalamin receptor)
Band: 10p13
Quick LinksEntrez ID:8029; OMIM: 602997; Uniprot ID:CUBN_HUMAN; ENSEMBL ID: ENSG00000107611; HGNC ID: 2548
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 
blastocyst1 / 6231916
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult14 / 19391217
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
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 tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal63 / 336030718
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
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 
bone1 / 7165513
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine3 / 23447212
kidney44 / 211777207
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis27 / 33044281
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206775_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.6
Adipocyte10.15
AdrenalCortex14
Adrenalgland10.6
Amygdala10.55
Appendix14.5
AtrioventricularNode8.65
BDCA4+_DentriticCells9.9
Bonemarrow12.6
BronchialEpithelialCells10
CD105+_Endothelial9.65
CD14+_Monocytes9.5
CD19+_BCells(neg._sel.)9.9
CD33+_Myeloid12.05
CD34+11.45
CD4+_Tcells11.2
CD56+_NKCells9.1
CD71+_EarlyErythroid9.45
CD8+_Tcells9.85
CardiacMyocytes13.9
Caudatenucleus9.15
Cerebellum10.2
CerebellumPeduncles13.45
CiliaryGanglion9
CingulateCortex11.05
Colorectaladenocarcinoma9.95
DorsalRootGanglion8.8
FetalThyroid10.8
Fetalbrain9.45
Fetalliver8.95
Fetallung8.25
GlobusPallidus7.6
Heart21.1
Hypothalamus10.95
Kidney61.4
Leukemia_chronicMyelogenousK-5629.15
Leukemia_promyelocytic-HL-609
Leukemialymphoblastic(MOLT-4)7.45
Liver14.8
Lung11.1
Lymphnode8.7
Lymphoma_burkitts(Daudi)12.85
Lymphoma_burkitts(Raji)15.1
MedullaOblongata9.3
OccipitalLobe9.15
OlfactoryBulb8.1
Ovary7.2
Pancreas9.65
PancreaticIslet11.55
ParietalLobe11.2
Pituitary11.9
Placenta10.15
Pons10.05
PrefrontalCortex12.8
Prostate11.85
Salivarygland8.9
SkeletalMuscle18.85
Skin8.15
SmoothMuscle11.65
Spinalcord10.85
SubthalamicNucleus9.4
SuperiorCervicalGanglion12.4
TemporalLobe9.3
Testis8.7
TestisGermCell9.55
TestisIntersitial8.8
TestisLeydigCell10.35
TestisSeminiferousTubule8.8
Thalamus10.45
Thymus8
Thyroid13.05
Tongue11.8
Tonsil9.95
Trachea8.7
TrigeminalGanglion14.75
Uterus8.25
UterusCorpus14.6
WholeBlood11.05
Wholebrain8.55
colon10.2
pineal_day17.08
pineal_night18.16
retina13.475
small_intestine9.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13236_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
Amygdala2.12 ± 1.05
Basal Forebrain1.63 ± 0.3
Basal Part of Pons2.12 ± 0.82
Cerebellar Cortex1.47 ± 0.71
Cerebellar Nuclei1.93 ± 0.77
Claustrum2.4 ± 0.68
Epithalamus2.04 ± 0.84
Frontal Lobe1.49 ± 0.63
Globus Pallidus2.25 ± 0.36
Hypothalamus1.65 ± 0.72
Insula1.57 ± 0.54
Limbic Lobe1.72 ± 0.63
Mesencephalon1.76 ± 0.67
Myelencephalon1.72 ± 0.68
Occipital Lobe1.68 ± 0.59
Parietal Lobe1.68 ± 0.68
Pontine Tegmentum1.5 ± 0.6
Striatum1.83 ± 0.52
Subthalamus1.78 ± 0.61
Temporal Lobe1.56 ± 0.63
Thalamus1.57 ± 0.58
White Matter2.26 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CubnCBCerebellum1.71
1.91
CubnCTXCerebral cortex0.54
0.52
CubnHIPHippocampal region0.89
1.06
CubnHPFHippocampal formation0.75
0.78
CubnHYHypothalamus0.48
0.5
CubnLSXLateral septal complex0
0
CubnMBMidbrain2.87
2.91
CubnMYMedulla1.08
1.04
CubnOLFOlfactory bulb0.19
0.27
CubnPPons2.27
2.04
CubnPALPallidum0.12
0.08
CubnRHPRetrohippocampal region0.5
0.39
CubnsAMYStriatum-like amygdalar nuclei0
0
CubnSTRStriatum0.06
0.1
CubnSTRdStriatum dorsal region0.08
0.13
CubnSTRvStriatum ventral region0.11
0.1
CubnTHThalamus0.45
0.64
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00139319 20 2410 2429 YCGNTIPDSIDTSSNTAVVR 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