AutismKB 2.0

Annotation Detail for SKP1


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Basic Information Top
Gene Symbol:SKP1 ( EMC19,MGC34403,OCP-II,OCP2,SKP1A,TCEB1L,p19A )
Gene Full Name: S-phase kinase-associated protein 1
Band: 5q31.1
Quick LinksEntrez ID:6500; OMIM: 601434; Uniprot ID:SKP1_HUMAN; ENSEMBL ID: ENSG00000113558; HGNC ID: 10899
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 body8 / 70761113
blastocyst16 / 62319256
fetus118 / 564012209
neonate1 / 3109732
infant4 / 23620169
juvenile11 / 55556197
adult523 / 1939121269
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor6 / 12794468
bladder carcinoma23 / 174751316
breast (mammary gland) tumor8 / 9417884
cervical tumor5 / 34366145
chondrosarcoma22 / 82823265
colorectal tumor6 / 11424652
esophageal tumor2 / 17290115
gastrointestinal tumor5 / 11936941
germ cell tumor62 / 263845234
glioma27 / 106883252
head and neck tumor14 / 136302102
kidney tumor18 / 68959261
leukemia30 / 95842313
liver tumor30 / 96359311
lung tumor14 / 103127135
lymphoma7 / 7175597
non-neoplasia10 / 97250102
normal965 / 3360307287
ovarian tumor6 / 7668278
pancreatic tumor38 / 104616363
primitive neuroectodermal tumor of the CNS17 / 125680135
prostate cancer39 / 102680379
retinoblastoma7 / 46356151
skin tumor33 / 124949264
soft tissue/muscle tissue tumor198 / 1251911581
uterine tumor28 / 90257310
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland14 / 33197421
ascites1 / 4001524
bladder21 / 29757705
blood65 / 123478526
bone20 / 71655279
bone marrow27 / 48801553
brain280 / 1100989254
cervix6 / 48171124
connective tissue199 / 1492551333
ear7 / 16212431
embryonic tissue45 / 215722208
esophagus2 / 2020998
eye39 / 211054184
heart26 / 89626290
intestine27 / 234472115
kidney51 / 211777240
larynx0 / 241450 
liver88 / 207743423
lung80 / 336974237
lymph3 / 4427067
lymph node11 / 91610120
mammary gland22 / 153271143
mouth5 / 6705274
muscle62 / 107715575
nerve4 / 15768253
ovary11 / 102051107
pancreas81 / 214812377
parathyroid12 / 20539584
pharynx82 / 413281984
pituitary gland10 / 16585602
placenta63 / 280825224
prostate70 / 189345369
salivary gland14 / 20155694
skin44 / 210574208
spleen5 / 5395292
stomach8 / 9661982
testis87 / 330442263
thymus11 / 81131135
thyroid4 / 4747384
tonsil3 / 16999176
trachea0 / 524130 
umbilical cord1 / 1368073
uterus48 / 232878206
vascular24 / 51780463
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207974_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts738.3
Adipocyte1031.45
AdrenalCortex319.7
Adrenalgland464.2
Amygdala1957.65
Appendix348.1
AtrioventricularNode189.5
BDCA4+_DentriticCells660.35
Bonemarrow342.25
BronchialEpithelialCells1484.15
CD105+_Endothelial710.1
CD14+_Monocytes675.75
CD19+_BCells(neg._sel.)886.45
CD33+_Myeloid681.5
CD34+1021.4
CD4+_Tcells624.9
CD56+_NKCells792.15
CD71+_EarlyErythroid892.2
CD8+_Tcells638.85
CardiacMyocytes1229.4
Caudatenucleus694.85
Cerebellum635.15
CerebellumPeduncles915.55
CiliaryGanglion267.85
CingulateCortex818.45
Colorectaladenocarcinoma707
DorsalRootGanglion402.35
FetalThyroid791.45
Fetalbrain994.55
Fetalliver554.75
Fetallung546.9
GlobusPallidus423.25
Heart223.9
Hypothalamus1635.55
Kidney422.75
Leukemia_chronicMyelogenousK-562443.45
Leukemia_promyelocytic-HL-60462.7
Leukemialymphoblastic(MOLT-4)666.15
Liver176.8
Lung405.65
Lymphnode463.55
Lymphoma_burkitts(Daudi)513.45
Lymphoma_burkitts(Raji)263.7
MedullaOblongata707.75
OccipitalLobe1293.75
OlfactoryBulb600.35
Ovary564.05
Pancreas389.3
PancreaticIslet855.9
ParietalLobe737.55
Pituitary1352.8
Placenta1023.65
Pons526.05
PrefrontalCortex954
Prostate672.7
Salivarygland360.85
SkeletalMuscle61.85
Skin224.1
SmoothMuscle1642.1
Spinalcord1072.4
SubthalamicNucleus721.75
SuperiorCervicalGanglion113.2
TemporalLobe714.5
Testis934
TestisGermCell1093.1
TestisIntersitial1128.6
TestisLeydigCell863.9
TestisSeminiferousTubule635.9
Thalamus1048.45
Thymus665.1
Thyroid1508.8
Tongue318.65
Tonsil484.6
Trachea424.85
TrigeminalGanglion229.4
Uterus613.45
UterusCorpus348
WholeBlood764.45
Wholebrain1155.3
colon851.25
pineal_day1545.04
pineal_night1805.44
retina1288.45
small_intestine778.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P566701
  • 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
Amygdala10.63 ± 0.27
Basal Forebrain10.14 ± 0.24
Basal Part of Pons10.57 ± 0.16
Cerebellar Cortex10.21 ± 0.3
Cerebellar Nuclei10.41 ± 0.23
Claustrum10.62 ± 0.28
Epithalamus10.33 ± 0.35
Frontal Lobe10.36 ± 0.32
Globus Pallidus10.5 ± 0.22
Hypothalamus10.37 ± 0.35
Insula10.39 ± 0.24
Limbic Lobe10.5 ± 0.36
Mesencephalon10.32 ± 0.29
Myelencephalon10.32 ± 0.3
Occipital Lobe10.62 ± 0.27
Parietal Lobe10.43 ± 0.3
Pontine Tegmentum10.43 ± 0.25
Striatum10.23 ± 0.25
Subthalamus10.38 ± 0.33
Temporal Lobe10.36 ± 0.27
Thalamus10.31 ± 0.22
White Matter10.5 ± 0.14
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002967 8 114 121 GLLDVTCK Peptide Atlas
SKP1_HUMAN_0 0 0 0 NDFTEEEEAQVR PRIDE
SKP1_HUMAN_137 17 137 153 TFNIKNDFTEEEEAQVR PRIDE
SKP1_HUMAN_142 12 142 153 NDFTEEEEAQVR PRIDE
SKP1_HUMAN_57 23 57 79 VIQWCTHHKDDPPPPEDDENKEK PRIDE
SKP1_HUMAN_81 13 81 93 TDDIPVWDQEFLK PRIDE
SKP1_HUMAN_94 19 94 112 VDQGTLFELILAANYLDIK PRIDE

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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