AutismKB 2.0

Annotation Detail for REEP2


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Basic Information Top
Gene Symbol:REEP2 ( C5orf19,SGC32445 )
Gene Full Name: receptor accessory protein 2
Band: 5q31.2
Quick LinksEntrez ID:51308; OMIM: 609347; Uniprot ID:REEP2_HUMAN; ENSEMBL ID: ENSG00000132563; HGNC ID: 17975
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 body1 / 7076114
blastocyst0 / 623190 
fetus39 / 56401269
neonate0 / 310970 
infant2 / 2362084
juvenile3 / 5555653
adult52 / 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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor23 / 26384587
glioma11 / 106883102
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal136 / 336030740
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
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 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone3 / 7165541
bone marrow0 / 488010 
brain109 / 110098999
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye18 / 21105485
heart0 / 896260 
intestine5 / 23447221
kidney4 / 21177718
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach9 / 9661993
testis4 / 33044212
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205331_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.45
Adipocyte10
AdrenalCortex10.75
Adrenalgland10.25
Amygdala64.1
Appendix11.05
AtrioventricularNode8.85
BDCA4+_DentriticCells10.65
Bonemarrow12.55
BronchialEpithelialCells12.45
CD105+_Endothelial11.15
CD14+_Monocytes9.35
CD19+_BCells(neg._sel.)15.8
CD33+_Myeloid14.95
CD34+14
CD4+_Tcells11.15
CD56+_NKCells14
CD71+_EarlyErythroid13.75
CD8+_Tcells10.55
CardiacMyocytes14.3
Caudatenucleus35.25
Cerebellum24.45
CerebellumPeduncles29.65
CiliaryGanglion11.55
CingulateCortex60.1
Colorectaladenocarcinoma12.8
DorsalRootGanglion8.9
FetalThyroid9.65
Fetalbrain65.1
Fetalliver13.4
Fetallung7.8
GlobusPallidus37.55
Heart17
Hypothalamus47.7
Kidney9.25
Leukemia_chronicMyelogenousK-56210.35
Leukemia_promyelocytic-HL-609.3
Leukemialymphoblastic(MOLT-4)18
Liver16.15
Lung8.7
Lymphnode10.75
Lymphoma_burkitts(Daudi)17.7
Lymphoma_burkitts(Raji)17.6
MedullaOblongata15
OccipitalLobe27.5
OlfactoryBulb9.35
Ovary8.4
Pancreas10.05
PancreaticIslet15
ParietalLobe30.6
Pituitary18.7
Placenta10.05
Pons34.2
PrefrontalCortex51.45
Prostate11.75
Salivarygland9.95
SkeletalMuscle15.2
Skin9.25
SmoothMuscle11.3
Spinalcord20.2
SubthalamicNucleus36.65
SuperiorCervicalGanglion12.35
TemporalLobe31.5
Testis12.55
TestisGermCell10.6
TestisIntersitial10.35
TestisLeydigCell14
TestisSeminiferousTubule14.85
Thalamus58.65
Thymus7.7
Thyroid11.35
Tongue19.55
Tonsil12.3
Trachea10.75
TrigeminalGanglion11.7
Uterus8.45
UterusCorpus9.45
WholeBlood7.6
Wholebrain85.65
colon9.65
pineal_day174.02
pineal_night116.3
retina34.35
small_intestine9.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1932_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
Amygdala6.07 ± 0.65
Basal Forebrain6.17 ± 0.91
Basal Part of Pons6.76 ± 0.27
Cerebellar Cortex6.65 ± 0.25
Cerebellar Nuclei6.1 ± 0.37
Claustrum5.76 ± 0.48
Epithalamus5.74 ± 0.36
Frontal Lobe6.2 ± 0.48
Globus Pallidus5.34 ± 0.35
Hypothalamus5.79 ± 0.56
Insula6.23 ± 0.29
Limbic Lobe6.24 ± 0.49
Mesencephalon5.93 ± 0.55
Myelencephalon6.1 ± 0.54
Occipital Lobe6.34 ± 0.42
Parietal Lobe6.26 ± 0.47
Pontine Tegmentum5.96 ± 0.57
Striatum5.38 ± 0.41
Subthalamus6.14 ± 0.44
Temporal Lobe6.19 ± 0.36
Thalamus6.14 ± 0.43
White Matter4.06 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Reep2CBCerebellum72.65
100
Reep2CTXCerebral cortex100
100
Reep2HIPHippocampal region100
100
Reep2HPFHippocampal formation100
100
Reep2HYHypothalamus100
100
Reep2LSXLateral septal complex100
100
Reep2MBMidbrain100
100
Reep2MYMedulla91.28
100
Reep2OLFOlfactory bulb100
100
Reep2PPons100
100
Reep2PALPallidum100
100
Reep2RHPRetrohippocampal region100
100
Reep2sAMYStriatum-like amygdalar nuclei100
100
Reep2STRStriatum100
100
Reep2STRdStriatum dorsal region100
100
Reep2STRvStriatum ventral region100
100
Reep2THThalamus100
100
Peptide Top

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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