AutismKB 2.0

Annotation Detail for C16orf53


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Basic Information Top
Gene Symbol:C16orf53 ( FLJ22459,GAS,MGC4606,PA1 )
Gene Full Name: chromosome 16 open reading frame 53
Band: 16p11.2
Quick LinksEntrez ID:79447; OMIM: 612033; Uniprot ID:PA1_HUMAN; ENSEMBL ID: ENSG00000185928; HGNC ID:
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
blastocyst1 / 6231916
fetus6 / 56401210
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult56 / 193912128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor4 / 34366116
chondrosarcoma7 / 8282384
colorectal tumor12 / 114246105
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor17 / 26384564
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor8 / 10312777
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal67 / 336030719
ovarian tumor1 / 7668213
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma6 / 46356129
skin tumor16 / 124949128
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone5 / 7165569
bone marrow0 / 488010 
brain16 / 110098914
cervix7 / 48171145
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye10 / 21105447
heart0 / 896260 
intestine15 / 23447263
kidney6 / 21177728
larynx0 / 241450 
liver8 / 20774338
lung13 / 33697438
lymph1 / 4427022
lymph node1 / 9161010
mammary gland6 / 15327139
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary6 / 10205158
pancreas23 / 214812107
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta15 / 28082553
prostate8 / 18934542
salivary gland0 / 201550 
skin16 / 21057475
spleen1 / 5395218
stomach1 / 9661910
testis1 / 3304423
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218300_at
Cell line Expression level Expression bar
721_B_lymphoblasts15.4
Adipocyte7.05
AdrenalCortex8.2
Adrenalgland7.45
Amygdala8.75
Appendix7.1
AtrioventricularNode5.8
BDCA4+_DentriticCells20.25
Bonemarrow7.9
BronchialEpithelialCells5.2
CD105+_Endothelial8.2
CD14+_Monocytes18.7
CD19+_BCells(neg._sel.)8.65
CD33+_Myeloid11.05
CD34+10.35
CD4+_Tcells10.2
CD56+_NKCells11.95
CD71+_EarlyErythroid10.4
CD8+_Tcells8.55
CardiacMyocytes9.95
Caudatenucleus9.4
Cerebellum14.85
CerebellumPeduncles19.15
CiliaryGanglion5.45
CingulateCortex8.3
Colorectaladenocarcinoma9.2
DorsalRootGanglion5.9
FetalThyroid7.9
Fetalbrain8.6
Fetalliver6.95
Fetallung6.9
GlobusPallidus5.85
Heart10.05
Hypothalamus9.3
Kidney7.4
Leukemia_chronicMyelogenousK-5626.85
Leukemia_promyelocytic-HL-609.6
Leukemialymphoblastic(MOLT-4)12.3
Liver10.5
Lung8.55
Lymphnode6.95
Lymphoma_burkitts(Daudi)11.05
Lymphoma_burkitts(Raji)11.65
MedullaOblongata6.25
OccipitalLobe7.35
OlfactoryBulb10.9
Ovary5.25
Pancreas4.85
PancreaticIslet8.7
ParietalLobe8.4
Pituitary21.9
Placenta8.5
Pons7.7
PrefrontalCortex10.35
Prostate10.6
Salivarygland6.3
SkeletalMuscle8.9
Skin6.05
SmoothMuscle8.7
Spinalcord8.75
SubthalamicNucleus7.2
SuperiorCervicalGanglion6.65
TemporalLobe7.3
Testis7.25
TestisGermCell9.2
TestisIntersitial6.8
TestisLeydigCell8
TestisSeminiferousTubule8.25
Thalamus8.25
Thymus6.6
Thyroid12.05
Tongue7.7
Tonsil7.85
Trachea6.95
TrigeminalGanglion7.8
Uterus6.9
UterusCorpus7.65
WholeBlood8.85
Wholebrain6.5
colon5.4
pineal_day61.44
pineal_night31.64
retina10.9
small_intestine6.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_3998_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
Amygdala2.26 ± 1.02
Basal Forebrain1.81 ± 0.2
Basal Part of Pons1.51 ± 0.35
Cerebellar Cortex1.79 ± 0.82
Cerebellar Nuclei2.13 ± 0.72
Claustrum2.63 ± 0.77
Epithalamus1.53 ± 0.71
Frontal Lobe1.66 ± 0.61
Globus Pallidus2.34 ± 0.38
Hypothalamus1.89 ± 0.63
Insula1.75 ± 0.53
Limbic Lobe1.81 ± 0.59
Mesencephalon1.97 ± 0.65
Myelencephalon1.84 ± 0.64
Occipital Lobe1.87 ± 0.61
Parietal Lobe1.84 ± 0.64
Pontine Tegmentum1.88 ± 0.67
Striatum1.96 ± 0.55
Subthalamus2 ± 0.69
Temporal Lobe1.73 ± 0.65
Thalamus1.81 ± 0.57
White Matter2.36 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2900092E17RikCBCerebellum100
100
2900092E17RikCTXCerebral cortex100
97.24
2900092E17RikHIPHippocampal region95.48
100
2900092E17RikHPFHippocampal formation100
100
2900092E17RikHYHypothalamus86.91
74.94
2900092E17RikLSXLateral septal complex67.74
50.98
2900092E17RikMBMidbrain54.03
56.07
2900092E17RikMYMedulla38.41
57.4
2900092E17RikOLFOlfactory bulb63.15
63.79
2900092E17RikPPons50.69
68.06
2900092E17RikPALPallidum63.08
61.31
2900092E17RikRHPRetrohippocampal region100
100
2900092E17RiksAMYStriatum-like amygdalar nuclei84.51
70.95
2900092E17RikSTRStriatum55.36
43.89
2900092E17RikSTRdStriatum dorsal region41.36
31.73
2900092E17RikSTRvStriatum ventral region78.97
63.34
2900092E17RikTHThalamus51.32
43.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00065119 18 224 241 DLFSLDSEDPSPASPPLR 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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