AutismKB 2.0

Annotation Detail for C17orf53


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Basic Information Top
Gene Symbol:C17orf53 ( FLJ11594,MGC3130 )
Gene Full Name: chromosome 17 open reading frame 53
Band: 17q21.31
Quick LinksEntrez ID:78995; OMIM: NA; Uniprot ID:CQ053_HUMAN; ENSEMBL ID: ENSG00000125319; HGNC ID: 28460
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 body2 / 7076128
blastocyst3 / 6231948
fetus4 / 5640127
neonate0 / 310970 
infant2 / 2362084
juvenile2 / 5555635
adult15 / 19391217
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor3 / 26384511
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma6 / 7175583
non-neoplasia0 / 972500 
normal20 / 33603075
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow1 / 4880120
brain14 / 110098912
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine3 / 23447212
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node3 / 9161032
mammary gland3 / 15327119
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219879_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.2
Adipocyte16.5
AdrenalCortex17.3
Adrenalgland16.05
Amygdala15.05
Appendix16.65
AtrioventricularNode13.35
BDCA4+_DentriticCells18.35
Bonemarrow16.45
BronchialEpithelialCells16.45
CD105+_Endothelial16.8
CD14+_Monocytes17.75
CD19+_BCells(neg._sel.)17.7
CD33+_Myeloid19.35
CD34+21.3
CD4+_Tcells18.25
CD56+_NKCells18.8
CD71+_EarlyErythroid15.55
CD8+_Tcells14.5
CardiacMyocytes21.3
Caudatenucleus18.35
Cerebellum13.75
CerebellumPeduncles18.75
CiliaryGanglion12.4
CingulateCortex16.95
Colorectaladenocarcinoma16.6
DorsalRootGanglion24.45
FetalThyroid16.15
Fetalbrain15.85
Fetalliver20.55
Fetallung13.9
GlobusPallidus12.15
Heart21.1
Hypothalamus17.95
Kidney14.85
Leukemia_chronicMyelogenousK-56215.15
Leukemia_promyelocytic-HL-6015.85
Leukemialymphoblastic(MOLT-4)13.75
Liver21.85
Lung17.45
Lymphnode14
Lymphoma_burkitts(Daudi)26.75
Lymphoma_burkitts(Raji)23.15
MedullaOblongata15.25
OccipitalLobe14.9
OlfactoryBulb13.15
Ovary11
Pancreas13.35
PancreaticIslet17.65
ParietalLobe17.45
Pituitary19.4
Placenta17.25
Pons15.8
PrefrontalCortex20.4
Prostate17.75
Salivarygland16.95
SkeletalMuscle20
Skin18.2
SmoothMuscle18.85
Spinalcord18.7
SubthalamicNucleus15.2
SuperiorCervicalGanglion18.7
TemporalLobe16.8
Testis14.7
TestisGermCell13.95
TestisIntersitial14
TestisLeydigCell16.4
TestisSeminiferousTubule15.8
Thalamus16.9
Thymus13.15
Thyroid18.9
Tongue16.2
Tonsil16.15
Trachea13.9
TrigeminalGanglion16.35
Uterus11.1
UterusCorpus14.85
WholeBlood17.6
Wholebrain13.3
colon16.7
pineal_day20.46
pineal_night19.96
retina20.15
small_intestine16.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P48248
  • 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
Amygdala2.01 ± 0.96
Basal Forebrain1.6 ± 0.2
Basal Part of Pons1.38 ± 0.42
Cerebellar Cortex1.5 ± 0.7
Cerebellar Nuclei1.92 ± 0.69
Claustrum2.49 ± 0.83
Epithalamus1.36 ± 0.66
Frontal Lobe1.48 ± 0.61
Globus Pallidus2.11 ± 0.23
Hypothalamus1.71 ± 0.69
Insula1.5 ± 0.5
Limbic Lobe1.62 ± 0.57
Mesencephalon1.83 ± 0.69
Myelencephalon1.68 ± 0.62
Occipital Lobe1.76 ± 0.62
Parietal Lobe1.61 ± 0.63
Pontine Tegmentum1.66 ± 0.63
Striatum1.78 ± 0.49
Subthalamus1.85 ± 0.77
Temporal Lobe1.6 ± 0.69
Thalamus1.6 ± 0.57
White Matter2.08 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC030867CBCerebellum7.3
8.08
BC030867CTXCerebral cortex12.4
9.09
BC030867HIPHippocampal region9.25
8.65
BC030867HPFHippocampal formation7.22
6.17
BC030867HYHypothalamus2.74
2.07
BC030867LSXLateral septal complex3.2
2.42
BC030867MBMidbrain5.67
5.38
BC030867MYMedulla3.59
4.53
BC030867OLFOlfactory bulb3.75
3.26
BC030867PPons3.71
5.05
BC030867PALPallidum2.2
1.71
BC030867RHPRetrohippocampal region3.72
2.58
BC030867sAMYStriatum-like amygdalar nuclei1.98
1.82
BC030867STRStriatum1.88
1.39
BC030867STRdStriatum dorsal region1.67
1.24
BC030867STRvStriatum ventral region1.82
1.23
BC030867THThalamus9.8
7.1
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00501704 18 592 609 DSGSFQHDVAAKPEEGFR 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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