AutismKB 2.0

Annotation Detail for SAE1


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Basic Information Top
Gene Symbol:SAE1 ( AOS1,FLJ3091,HSPC140,SUA1,UBLE1A )
Gene Full Name: SUMO1 activating enzyme subunit 1
Band: 19q13.32
Quick LinksEntrez ID:10055; OMIM: 613294; Uniprot ID:SAE1_HUMAN; ENSEMBL ID: ENSG00000142230; HGNC ID: 30660
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 body18 / 70761254
blastocyst19 / 62319304
fetus61 / 564012108
neonate12 / 31097385
infant8 / 23620338
juvenile27 / 55556485
adult288 / 1939121148
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma1 / 1747557
breast (mammary gland) tumor24 / 94178254
cervical tumor12 / 34366349
chondrosarcoma17 / 82823205
colorectal tumor47 / 114246411
esophageal tumor2 / 17290115
gastrointestinal tumor22 / 119369184
germ cell tumor64 / 263845242
glioma34 / 106883318
head and neck tumor20 / 136302146
kidney tumor19 / 68959275
leukemia12 / 95842125
liver tumor27 / 96359280
lung tumor51 / 103127494
lymphoma21 / 71755292
non-neoplasia9 / 9725092
normal400 / 3360307119
ovarian tumor9 / 76682117
pancreatic tumor23 / 104616219
primitive neuroectodermal tumor of the CNS55 / 125680437
prostate cancer32 / 102680311
retinoblastoma27 / 46356582
skin tumor41 / 124949328
soft tissue/muscle tissue tumor57 / 125191455
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland6 / 33197180
ascites6 / 40015149
bladder8 / 29757268
blood23 / 123478186
bone13 / 71655181
bone marrow8 / 48801163
brain172 / 1100989156
cervix17 / 48171352
connective tissue22 / 149255147
ear0 / 162120 
embryonic tissue59 / 215722273
esophagus2 / 2020998
eye47 / 211054222
heart10 / 89626111
intestine65 / 234472277
kidney34 / 211777160
larynx2 / 2414582
liver33 / 207743158
lung76 / 336974225
lymph15 / 44270338
lymph node5 / 9161054
mammary gland27 / 153271176
mouth4 / 6705259
muscle15 / 107715139
nerve0 / 157680 
ovary20 / 102051195
pancreas23 / 214812107
parathyroid1 / 2053948
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta49 / 280825174
prostate42 / 189345221
salivary gland5 / 20155248
skin71 / 210574337
spleen7 / 53952129
stomach9 / 9661993
testis55 / 330442166
thymus14 / 81131172
thyroid9 / 47473189
tonsil3 / 16999176
trachea2 / 5241338
umbilical cord6 / 13680438
uterus58 / 232878249
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217946_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts776.4
Adipocyte38.3
AdrenalCortex15.45
Adrenalgland22.7
Amygdala50.45
Appendix15.2
AtrioventricularNode13
BDCA4+_DentriticCells138.2
Bonemarrow37.5
BronchialEpithelialCells111.1
CD105+_Endothelial73.9
CD14+_Monocytes64.65
CD19+_BCells(neg._sel.)65.35
CD33+_Myeloid68.75
CD34+185.15
CD4+_Tcells114.3
CD56+_NKCells142.75
CD71+_EarlyErythroid54.05
CD8+_Tcells101.4
CardiacMyocytes129.65
Caudatenucleus20.65
Cerebellum29.95
CerebellumPeduncles31.05
CiliaryGanglion10.45
CingulateCortex51.25
Colorectaladenocarcinoma536.85
DorsalRootGanglion11.6
FetalThyroid74.6
Fetalbrain61.1
Fetalliver13
Fetallung32.5
GlobusPallidus20
Heart18.7
Hypothalamus61.95
Kidney11.9
Leukemia_chronicMyelogenousK-562139.25
Leukemia_promyelocytic-HL-60166
Leukemialymphoblastic(MOLT-4)258.5
Liver19.05
Lung54.4
Lymphnode28.25
Lymphoma_burkitts(Daudi)282.8
Lymphoma_burkitts(Raji)16.05
MedullaOblongata31.15
OccipitalLobe37.5
OlfactoryBulb16.85
Ovary10.6
Pancreas33.4
PancreaticIslet24.9
ParietalLobe24.45
Pituitary31.95
Placenta38.95
Pons25.1
PrefrontalCortex88.9
Prostate38.6
Salivarygland19.95
SkeletalMuscle17.25
Skin11.3
SmoothMuscle141.25
Spinalcord22.65
SubthalamicNucleus33.7
SuperiorCervicalGanglion22.95
TemporalLobe41.35
Testis290.7
TestisGermCell119.25
TestisIntersitial101.25
TestisLeydigCell135.85
TestisSeminiferousTubule123.45
Thalamus44
Thymus128.25
Thyroid120.35
Tongue15.75
Tonsil39.65
Trachea21.7
TrigeminalGanglion15.1
Uterus46.8
UterusCorpus12.95
WholeBlood31.25
Wholebrain173.3
colon44.7
pineal_day51.58
pineal_night50.16
retina57.25
small_intestine45.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P16337
  • 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
Amygdala4.51 ± 0.78
Basal Forebrain4.15 ± 0.59
Basal Part of Pons4.92 ± 0.58
Cerebellar Cortex4.68 ± 0.35
Cerebellar Nuclei4.63 ± 0.51
Claustrum4.34 ± 0.74
Epithalamus4.41 ± 0.6
Frontal Lobe4.88 ± 0.47
Globus Pallidus3.73 ± 0.56
Hypothalamus4.66 ± 0.69
Insula4.8 ± 0.36
Limbic Lobe4.49 ± 0.66
Mesencephalon4.68 ± 0.63
Myelencephalon4.55 ± 0.71
Occipital Lobe4.18 ± 0.87
Parietal Lobe4.8 ± 0.67
Pontine Tegmentum4.47 ± 0.71
Striatum3.42 ± 0.84
Subthalamus4.72 ± 0.19
Temporal Lobe4.9 ± 0.46
Thalamus4.47 ± 0.64
White Matter2.86 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Uble1aCBCerebellum6.88
8.19
Uble1aCTXCerebral cortex22.34
17.37
Uble1aHIPHippocampal region17.06
17.24
Uble1aHPFHippocampal formation17.83
17.17
Uble1aHYHypothalamus2.32
2.01
Uble1aLSXLateral septal complex0.97
0.57
Uble1aMBMidbrain4.68
5.06
Uble1aMYMedulla8.15
10.5
Uble1aOLFOlfactory bulb20.75
15.97
Uble1aPPons6.96
8.95
Uble1aPALPallidum4.2
4.2
Uble1aRHPRetrohippocampal region19.1
16.76
Uble1asAMYStriatum-like amygdalar nuclei5.83
4.65
Uble1aSTRStriatum4.93
3.7
Uble1aSTRdStriatum dorsal region5.16
4
Uble1aSTRvStriatum ventral region4.38
2.81
Uble1aTHThalamus3.44
2.96
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00029740 26 153 178 FFTGDVFGYHGYTFANLGEHEFVEEK Peptide Atlas
SAE1_HUMAN_1 21 1 21 MVEKEEAGGGISEEEAAQYDR PRIDE
SAE1_HUMAN_2 20 2 21 VEKEEAGGGISEEEAAQYDR PRIDE
SAE1_HUMAN_293 23 293 315 YCFSEMAPVCAVVGGILAQEIVK PRIDE
SAE1_HUMAN_322 14 322 335 DPPHNNFFFFDGMK PRIDE
SAE1_HUMAN_62 22 62 83 GLTMLDHEQVTPEDPGAQFLIR 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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