AutismKB 2.0

Annotation Detail for C17orf75


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Basic Information Top
Gene Symbol:C17orf75 ( NJMU-R1 )
Gene Full Name: chromosome 17 open reading frame 75
Band: 17q11.2
Quick LinksEntrez ID:64149; OMIM: NA; Uniprot ID:NJMU_HUMAN; ENSEMBL ID: ENSG00000108666; HGNC ID: 30173
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
blastocyst1 / 6231916
fetus13 / 56401223
neonate0 / 310970 
infant3 / 23620127
juvenile2 / 5555635
adult51 / 193912126
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal102 / 336030730
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer3 / 10268029
retinoblastoma4 / 4635686
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone1 / 7165513
bone marrow3 / 4880161
brain37 / 110098933
cervix0 / 481710 
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye12 / 21105456
heart1 / 8962611
intestine9 / 23447238
kidney5 / 21177723
larynx1 / 2414541
liver1 / 2077434
lung15 / 33697444
lymph0 / 442700 
lymph node4 / 9161043
mammary gland5 / 15327132
mouth0 / 670520 
muscle5 / 10771546
nerve1 / 1576863
ovary2 / 10205119
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta2 / 2808257
prostate4 / 18934521
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach3 / 9661931
testis13 / 33044239
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203830_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.85
Adipocyte13.3
AdrenalCortex21.3
Adrenalgland13.65
Amygdala12.85
Appendix20.35
AtrioventricularNode19.4
BDCA4+_DentriticCells11.25
Bonemarrow18.4
BronchialEpithelialCells13.75
CD105+_Endothelial14.3
CD14+_Monocytes17.95
CD19+_BCells(neg._sel.)14.3
CD33+_Myeloid16.05
CD34+15.75
CD4+_Tcells12.75
CD56+_NKCells15.25
CD71+_EarlyErythroid14.1
CD8+_Tcells12.2
CardiacMyocytes35.95
Caudatenucleus12.05
Cerebellum11.5
CerebellumPeduncles21.95
CiliaryGanglion17.75
CingulateCortex15.2
Colorectaladenocarcinoma19.35
DorsalRootGanglion14.65
FetalThyroid15.4
Fetalbrain13
Fetalliver12.6
Fetallung9
GlobusPallidus12.35
Heart29.35
Hypothalamus14.05
Kidney14.05
Leukemia_chronicMyelogenousK-56212.5
Leukemia_promyelocytic-HL-6017.55
Leukemialymphoblastic(MOLT-4)15.1
Liver24.65
Lung14.8
Lymphnode10.5
Lymphoma_burkitts(Daudi)20.35
Lymphoma_burkitts(Raji)25.7
MedullaOblongata11.8
OccipitalLobe12.1
OlfactoryBulb10.75
Ovary12.3
Pancreas12.55
PancreaticIslet17.95
ParietalLobe17.5
Pituitary16.35
Placenta12.05
Pons14.45
PrefrontalCortex14.15
Prostate15.3
Salivarygland12.2
SkeletalMuscle34.7
Skin17.7
SmoothMuscle15.65
Spinalcord14.7
SubthalamicNucleus14.8
SuperiorCervicalGanglion32.8
TemporalLobe15
Testis12
TestisGermCell10.55
TestisIntersitial17.6
TestisLeydigCell15.45
TestisSeminiferousTubule20.35
Thalamus15.45
Thymus10.05
Thyroid15.5
Tongue20.75
Tonsil14.8
Trachea11.1
TrigeminalGanglion42.2
Uterus10.55
UterusCorpus16.6
WholeBlood13.9
Wholebrain10.35
colon13.7
pineal_day26.54
pineal_night23.12
retina16.475
small_intestine13.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P15639
  • 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
Amygdala7.73 ± 0.28
Basal Forebrain7.87 ± 0.07
Basal Part of Pons8.07 ± 0.2
Cerebellar Cortex7.95 ± 0.21
Cerebellar Nuclei8.33 ± 0.3
Claustrum7.74 ± 0.31
Epithalamus7.86 ± 0.23
Frontal Lobe7.9 ± 0.27
Globus Pallidus7.98 ± 0.19
Hypothalamus8.17 ± 0.22
Insula7.81 ± 0.27
Limbic Lobe7.81 ± 0.26
Mesencephalon7.93 ± 0.27
Myelencephalon7.88 ± 0.26
Occipital Lobe8.12 ± 0.2
Parietal Lobe8.07 ± 0.21
Pontine Tegmentum7.93 ± 0.23
Striatum7.68 ± 0.23
Subthalamus8.24 ± 0.22
Temporal Lobe7.85 ± 0.25
Thalamus7.88 ± 0.2
White Matter7.8 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5730455P16RikCBCerebellum0
0
5730455P16RikCTXCerebral cortex0
0
5730455P16RikHIPHippocampal region0
0
5730455P16RikHPFHippocampal formation0
0
5730455P16RikHYHypothalamus0
0
5730455P16RikLSXLateral septal complex0
0
5730455P16RikMBMidbrain0
0
5730455P16RikMYMedulla0
0
5730455P16RikOLFOlfactory bulb0
0
5730455P16RikPPons0
0
5730455P16RikPALPallidum0
0
5730455P16RikRHPRetrohippocampal region0
0
5730455P16RiksAMYStriatum-like amygdalar nuclei0
0
5730455P16RikSTRStriatum0
0
5730455P16RikSTRdStriatum dorsal region0
0
5730455P16RikSTRvStriatum ventral region0
0
5730455P16RikTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00006722 16 29 44 RLEPPSSSHYCLYSYR 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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