AutismKB 2.0

Annotation Detail for NUP35


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Basic Information Top
Gene Symbol:NUP35 ( MP44,NP44,NUP53 )
Gene Full Name: nucleoporin 35kDa
Band: 2q32.1
Quick LinksEntrez ID:129401; OMIM: 608140; Uniprot ID:NUP53_HUMAN; ENSEMBL ID: ENSG00000163002; HGNC ID: 29797
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 
blastocyst2 / 6231932
fetus10 / 56401217
neonate0 / 310970 
infant4 / 23620169
juvenile1 / 5555617
adult30 / 193912115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma8 / 17475457
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor21 / 26384579
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal78 / 336030723
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder9 / 29757302
blood1 / 1234788
bone1 / 7165513
bone marrow4 / 4880181
brain38 / 110098934
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye2 / 2110549
heart3 / 8962633
intestine1 / 2344724
kidney5 / 21177723
larynx0 / 241450 
liver3 / 20774314
lung6 / 33697417
lymph0 / 442700 
lymph node3 / 9161032
mammary gland4 / 15327126
mouth1 / 6705214
muscle1 / 1077159
nerve2 / 15768126
ovary2 / 10205119
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland3 / 20155148
skin10 / 21057447
spleen1 / 5395218
stomach1 / 9661910
testis31 / 33044293
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5545_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
Amygdala6.02 ± 0.38
Basal Forebrain6.31 ± 0.24
Basal Part of Pons5.91 ± 0.47
Cerebellar Cortex6.34 ± 0.27
Cerebellar Nuclei5.76 ± 0.33
Claustrum5.73 ± 0.31
Epithalamus6 ± 0.48
Frontal Lobe5.87 ± 0.34
Globus Pallidus5.74 ± 0.47
Hypothalamus5.87 ± 0.35
Insula5.88 ± 0.24
Limbic Lobe6.02 ± 0.36
Mesencephalon5.93 ± 0.43
Myelencephalon6 ± 0.42
Occipital Lobe6.24 ± 0.39
Parietal Lobe5.92 ± 0.37
Pontine Tegmentum5.87 ± 0.48
Striatum6.37 ± 0.51
Subthalamus5.59 ± 0.21
Temporal Lobe5.92 ± 0.33
Thalamus5.8 ± 0.45
White Matter6.54 ± 0.44
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NUP53_HUMAN_282 12 282 293 ISTMRPLATAYK PRIDE
PAp00009404 15 255 269 CALSSPSLAFTPPIK 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