AutismKB 2.0

Annotation Detail for C21orf33


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Basic Information Top
Gene Symbol:C21orf33 ( ES1,GT335,HES1,KNPH,KNPI )
Gene Full Name: chromosome 21 open reading frame 33
Band: 21q22.3
Quick LinksEntrez ID:8209; OMIM: 601659; Uniprot ID:ES1_HUMAN; ENSEMBL ID: ENSG00000160221; HGNC ID: 1273
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 body4 / 7076156
blastocyst10 / 62319160
fetus38 / 56401267
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult175 / 193912190
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) tumor13 / 94178138
cervical tumor9 / 34366261
chondrosarcoma9 / 82823108
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor15 / 26384556
glioma13 / 106883121
head and neck tumor15 / 136302110
kidney tumor3 / 6895943
leukemia6 / 9584262
liver tumor12 / 96359124
lung tumor21 / 103127203
lymphoma20 / 71755278
non-neoplasia1 / 9725010
normal228 / 336030767
ovarian tumor5 / 7668265
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS23 / 125680183
prostate cancer9 / 10268087
retinoblastoma5 / 46356107
skin tumor29 / 124949232
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood11 / 12347889
bone10 / 71655139
bone marrow3 / 4880161
brain53 / 110098948
cervix14 / 48171290
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue22 / 215722101
esophagus0 / 202090 
eye17 / 21105480
heart10 / 89626111
intestine16 / 23447268
kidney8 / 21177737
larynx3 / 24145124
liver23 / 207743110
lung39 / 336974115
lymph17 / 44270384
lymph node10 / 91610109
mammary gland20 / 153271130
mouth3 / 6705244
muscle7 / 10771564
nerve2 / 15768126
ovary9 / 10205188
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta31 / 280825110
prostate21 / 189345110
salivary gland5 / 20155248
skin35 / 210574166
spleen0 / 539520 
stomach4 / 9661941
testis3 / 3304429
thymus0 / 811310 
thyroid5 / 47473105
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus21 / 23287890
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202217_at
Cell line Expression level Expression bar
721_B_lymphoblasts409.95
Adipocyte263.5
AdrenalCortex155.75
Adrenalgland176.15
Amygdala159.5
Appendix114.5
AtrioventricularNode33.75
BDCA4+_DentriticCells209.65
Bonemarrow105.75
BronchialEpithelialCells157.8
CD105+_Endothelial210.75
CD14+_Monocytes237.95
CD19+_BCells(neg._sel.)250.25
CD33+_Myeloid185.45
CD34+373.7
CD4+_Tcells197.05
CD56+_NKCells238.6
CD71+_EarlyErythroid58.3
CD8+_Tcells184.05
CardiacMyocytes96.55
Caudatenucleus226
Cerebellum306.35
CerebellumPeduncles356.55
CiliaryGanglion20.65
CingulateCortex201.35
Colorectaladenocarcinoma146.25
DorsalRootGanglion44.8
FetalThyroid392.45
Fetalbrain217.15
Fetalliver146.15
Fetallung176.35
GlobusPallidus121.95
Heart608.8
Hypothalamus428.15
Kidney618.25
Leukemia_chronicMyelogenousK-562276.25
Leukemia_promyelocytic-HL-60413.5
Leukemialymphoblastic(MOLT-4)296.75
Liver858.35
Lung300.4
Lymphnode168.35
Lymphoma_burkitts(Daudi)548.1
Lymphoma_burkitts(Raji)405.15
MedullaOblongata260.7
OccipitalLobe217.85
OlfactoryBulb183.9
Ovary72.1
Pancreas158.3
PancreaticIslet208.45
ParietalLobe217.05
Pituitary213.8
Placenta141.15
Pons175.45
PrefrontalCortex244.05
Prostate355.75
Salivarygland67
SkeletalMuscle326.4
Skin53.95
SmoothMuscle178.8
Spinalcord221.5
SubthalamicNucleus108.35
SuperiorCervicalGanglion44.9
TemporalLobe180.5
Testis153.75
TestisGermCell158.15
TestisIntersitial62.8
TestisLeydigCell70
TestisSeminiferousTubule70.75
Thalamus444.65
Thymus265.45
Thyroid374.35
Tongue233.9
Tonsil138.55
Trachea90.75
TrigeminalGanglion78.25
Uterus155.7
UterusCorpus109.6
WholeBlood116.4
Wholebrain426.85
colon186.9
pineal_day214.02
pineal_night204.94
retina238.825
small_intestine145.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P197432
  • 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
Amygdala4.39 ± 0.62
Basal Forebrain4.3 ± 0.25
Basal Part of Pons4.69 ± 0.34
Cerebellar Cortex4.66 ± 0.31
Cerebellar Nuclei4.54 ± 0.45
Claustrum3.79 ± 0.58
Epithalamus4.22 ± 0.26
Frontal Lobe4.47 ± 0.43
Globus Pallidus4.32 ± 0.66
Hypothalamus4.13 ± 0.57
Insula4.49 ± 0.29
Limbic Lobe4.3 ± 0.44
Mesencephalon4.48 ± 0.52
Myelencephalon4.39 ± 0.51
Occipital Lobe4.41 ± 0.4
Parietal Lobe4.43 ± 0.45
Pontine Tegmentum4.32 ± 0.43
Striatum4.58 ± 0.36
Subthalamus4.56 ± 0.28
Temporal Lobe4.38 ± 0.42
Thalamus4.64 ± 0.44
White Matter4.92 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D10Jhu81eCBCerebellum14.89
34.64
D10Jhu81eCTXCerebral cortex95.56
94.31
D10Jhu81eHIPHippocampal region84.32
100
D10Jhu81eHPFHippocampal formation79.75
100
D10Jhu81eHYHypothalamus95.24
95.43
D10Jhu81eLSXLateral septal complex56.35
48.49
D10Jhu81eMBMidbrain34.72
44.4
D10Jhu81eMYMedulla20.32
37.2
D10Jhu81eOLFOlfactory bulb59.89
67.55
D10Jhu81ePPons31.82
52.25
D10Jhu81ePALPallidum92.31
100
D10Jhu81eRHPRetrohippocampal region67.38
74.69
D10Jhu81esAMYStriatum-like amygdalar nuclei100
100
D10Jhu81eSTRStriatum75.07
67.16
D10Jhu81eSTRdStriatum dorsal region70.16
61.05
D10Jhu81eSTRvStriatum ventral region74.63
63.18
D10Jhu81eTHThalamus98.67
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ES1_HUMAN_0 0 0 0 ITDLANLSAANHDAAIFPGGFGAAK PRIDE
ES1_HUMAN_104 8 104 111 NVLTESAR PRIDE
ES1_HUMAN_114 27 114 140 GKITDLANLSAANHDAAIFPGGFGAAK PRIDE
ES1_HUMAN_116 25 116 140 ITDLANLSAANHDAAIFPGGFGAAK PRIDE
ES1_HUMAN_117 25 117 141 ITDLANLSAANHDAAIFPGGFGAAK PRIDE
ES1_HUMAN_141 13 141 153 NLSTFAVDGKDCK PRIDE
ES1_HUMAN_142 10 142 151 NLSTFAVDGK PRIDE
ES1_HUMAN_165 21 165 185 EFHQAGKPIGLCCIAPVLAAK PRIDE
ES1_HUMAN_188 26 188 213 GVEVTVGHEQEEGGKWPYAGTAEAIK PRIDE
ES1_HUMAN_189 15 189 203 GVEVTVGHEQEEGGK PRIDE
ES1_HUMAN_189 26 189 214 GVEVTVGHEQEEGGKWPYAGTAEAIK PRIDE
ES1_HUMAN_220 14 220 233 HCVKEVVEAHVDQK PRIDE
ES1_HUMAN_224 10 224 233 EVVEAHVDQK PRIDE
ES1_HUMAN_224 12 224 235 EVVEAHVDQKNK PRIDE
ES1_HUMAN_235 25 235 259 VVTTPAFMCETALHYIHDGIGAMVR PRIDE
ES1_HUMAN_236 25 236 260 VVTTPAFMCETALHYIHDGIGAMVR PRIDE
ES1_HUMAN_262 7 262 268 VLELTGK PRIDE
ES1_HUMAN_45 28 45 72 VALVLSGCGVYDGTEIHEASAILVHLSR PRIDE
ES1_HUMAN_6 6 6 11 VLVASR PRIDE
ES1_HUMAN_73 22 73 94 GGAEVQIFAPDVPQMHVIDHTK PRIDE
ES1_HUMAN_73 31 73 103 GGAEVQIFAPDVPQMHVIDHTKGQPSEGESR PRIDE
PAp00005879 13 142 154 NLSTFAVDGKDCK 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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