AutismKB 2.0

Annotation Detail for NUP205


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Basic Information Top
Gene Symbol:NUP205 ( C7orf14 )
Gene Full Name: nucleoporin 205kDa
Band: 7q33
Quick LinksEntrez ID:23165; OMIM: NA; Uniprot ID:NU205_HUMAN; ENSEMBL ID: ENSG00000155561; HGNC ID: 18658
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 body7 / 7076198
blastocyst17 / 62319272
fetus24 / 56401242
neonate0 / 310970 
infant2 / 2362084
juvenile4 / 5555671
adult155 / 193912179
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor14 / 94178148
cervical tumor4 / 34366116
chondrosarcoma3 / 8282336
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor30 / 263845113
glioma8 / 10688374
head and neck tumor31 / 136302227
kidney tumor7 / 68959101
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma11 / 71755153
non-neoplasia0 / 972500 
normal155 / 336030746
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor11 / 12494988
soft tissue/muscle tissue tumor11 / 12519187
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 
ascites2 / 4001549
bladder1 / 2975733
blood1 / 1234788
bone3 / 7165541
bone marrow2 / 4880140
brain40 / 110098936
cervix4 / 4817183
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue32 / 215722148
esophagus0 / 202090 
eye10 / 21105447
heart2 / 8962622
intestine15 / 23447263
kidney12 / 21177756
larynx0 / 241450 
liver8 / 20774338
lung7 / 33697420
lymph6 / 44270135
lymph node3 / 9161032
mammary gland16 / 153271104
mouth29 / 67052432
muscle8 / 10771574
nerve0 / 157680 
ovary2 / 10205119
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland3 / 16585180
placenta15 / 28082553
prostate9 / 18934547
salivary gland0 / 201550 
skin12 / 21057456
spleen1 / 5395218
stomach15 / 96619155
testis29 / 33044287
thymus6 / 8113173
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus28 / 232878120
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212247_at
Cell line Expression level Expression bar
721_B_lymphoblasts161.9
Adipocyte7.85
AdrenalCortex8.35
Adrenalgland6.7
Amygdala8.2
Appendix8.1
AtrioventricularNode6.05
BDCA4+_DentriticCells25
Bonemarrow7.95
BronchialEpithelialCells29.45
CD105+_Endothelial31.15
CD14+_Monocytes11.6
CD19+_BCells(neg._sel.)8.95
CD33+_Myeloid10.75
CD34+105.45
CD4+_Tcells15.25
CD56+_NKCells20.6
CD71+_EarlyErythroid12.25
CD8+_Tcells30.85
CardiacMyocytes10.2
Caudatenucleus7.15
Cerebellum6.45
CerebellumPeduncles9.05
CiliaryGanglion5.3
CingulateCortex8.1
Colorectaladenocarcinoma11.55
DorsalRootGanglion6.15
FetalThyroid7.65
Fetalbrain8.35
Fetalliver7.1
Fetallung6.95
GlobusPallidus5.9
Heart10.05
Hypothalamus8.9
Kidney6.5
Leukemia_chronicMyelogenousK-56249.3
Leukemia_promyelocytic-HL-6018.65
Leukemialymphoblastic(MOLT-4)79.1
Liver10.65
Lung8.65
Lymphnode7.6
Lymphoma_burkitts(Daudi)67.6
Lymphoma_burkitts(Raji)11.35
MedullaOblongata7.2
OccipitalLobe7.1
OlfactoryBulb6.5
Ovary5.3
Pancreas6.25
PancreaticIslet9.4
ParietalLobe8.45
Pituitary10.45
Placenta8.7
Pons7.6
PrefrontalCortex10
Prostate9.75
Salivarygland6.55
SkeletalMuscle9.1
Skin6.1
SmoothMuscle9.4
Spinalcord8.6
SubthalamicNucleus7.2
SuperiorCervicalGanglion9.1
TemporalLobe7.35
Testis7.7
TestisGermCell11.8
TestisIntersitial6.9
TestisLeydigCell7.95
TestisSeminiferousTubule7.1
Thalamus8.05
Thymus9.45
Thyroid9.7
Tongue8.1
Tonsil9
Trachea6.9
TrigeminalGanglion7.95
Uterus7.8
UterusCorpus7.4
WholeBlood8.55
Wholebrain6.3
colon9.85
pineal_day12.34
pineal_night11.52
retina10.1
small_intestine9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10749_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
Amygdala6.1 ± 0.43
Basal Forebrain6.09 ± 0.19
Basal Part of Pons6.23 ± 0.34
Cerebellar Cortex6.43 ± 0.13
Cerebellar Nuclei6.33 ± 0.42
Claustrum5.93 ± 0.62
Epithalamus6.63 ± 0.37
Frontal Lobe6.04 ± 0.3
Globus Pallidus6.05 ± 0.23
Hypothalamus6.24 ± 0.34
Insula6.09 ± 0.19
Limbic Lobe6.01 ± 0.32
Mesencephalon6.02 ± 0.37
Myelencephalon6.11 ± 0.35
Occipital Lobe6.26 ± 0.34
Parietal Lobe6.11 ± 0.27
Pontine Tegmentum6.05 ± 0.34
Striatum5.91 ± 0.34
Subthalamus6.36 ± 0.46
Temporal Lobe6.08 ± 0.29
Thalamus6.05 ± 0.29
White Matter6.46 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nup205CBCerebellum1.9
1.59
Nup205CTXCerebral cortex1.79
1.16
Nup205HIPHippocampal region2.16
1.66
Nup205HPFHippocampal formation1.94
1.39
Nup205HYHypothalamus1.27
0.83
Nup205LSXLateral septal complex1.33
0.83
Nup205MBMidbrain1.08
0.86
Nup205MYMedulla4.67
4.68
Nup205OLFOlfactory bulb3.29
2.03
Nup205PPons2.25
2
Nup205PALPallidum1.41
0.95
Nup205RHPRetrohippocampal region1.66
1.07
Nup205sAMYStriatum-like amygdalar nuclei0.85
0.56
Nup205STRStriatum0.76
0.55
Nup205STRdStriatum dorsal region0.44
0.42
Nup205STRvStriatum ventral region1.2
0.64
Nup205THThalamus1.52
1.05
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NU205_HUMAN_1604 12 1604 1615 DPPMFIPTPVDR PRIDE
NU205_HUMAN_491 9 491 499 QVVLSKFVR PRIDE
PAp00007134 28 1950 1977 SGLAIVSQHDLDQLQADAINAFGESLQK 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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