AutismKB 2.0

Annotation Detail for REEP4


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Basic Information Top
Gene Symbol:REEP4 ( C8orf20,FLJ22246,FLJ22277 )
Gene Full Name: receptor accessory protein 4
Band: 8p21.3
Quick LinksEntrez ID:80346; OMIM: 609349; Uniprot ID:REEP4_HUMAN; ENSEMBL ID: ENSG00000168476; HGNC ID: 26176
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
blastocyst5 / 6231980
fetus13 / 56401223
neonate2 / 3109764
infant1 / 2362042
juvenile3 / 5555653
adult97 / 193912150
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) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor3 / 17290173
gastrointestinal tumor11 / 11936992
germ cell tumor3 / 26384511
glioma5 / 10688346
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia10 / 95842104
liver tumor2 / 9635920
lung tumor9 / 10312787
lymphoma20 / 71755278
non-neoplasia5 / 9725051
normal137 / 336030740
ovarian tumor5 / 7668265
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS26 / 125680206
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites5 / 40015124
bladder0 / 297570 
blood17 / 123478137
bone2 / 7165527
bone marrow4 / 4880181
brain23 / 110098920
cervix10 / 48171207
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus3 / 20209148
eye2 / 2110549
heart1 / 8962611
intestine14 / 23447259
kidney6 / 21177728
larynx0 / 241450 
liver2 / 2077439
lung12 / 33697435
lymph8 / 44270180
lymph node2 / 9161021
mammary gland3 / 15327119
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary8 / 10205178
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta35 / 280825124
prostate6 / 18934531
salivary gland3 / 20155148
skin9 / 21057442
spleen6 / 53952111
stomach7 / 9661972
testis13 / 33044239
thymus15 / 81131184
thyroid0 / 474730 
tonsil1 / 1699958
trachea4 / 5241376
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218777_at
Cell line Expression level Expression bar
721_B_lymphoblasts36.75
Adipocyte20.4
AdrenalCortex13.5
Adrenalgland18.4
Amygdala23.05
Appendix14.15
AtrioventricularNode10.9
BDCA4+_DentriticCells50.95
Bonemarrow25.6
BronchialEpithelialCells75.95
CD105+_Endothelial87.1
CD14+_Monocytes112.15
CD19+_BCells(neg._sel.)36.8
CD33+_Myeloid99.25
CD34+70.35
CD4+_Tcells33.8
CD56+_NKCells96.95
CD71+_EarlyErythroid127.9
CD8+_Tcells36.85
CardiacMyocytes45.4
Caudatenucleus17.8
Cerebellum14.3
CerebellumPeduncles20.8
CiliaryGanglion9.05
CingulateCortex11.55
Colorectaladenocarcinoma49.95
DorsalRootGanglion16.4
FetalThyroid30.05
Fetalbrain22.2
Fetalliver20.2
Fetallung21.75
GlobusPallidus15.35
Heart44.3
Hypothalamus22.75
Kidney17.6
Leukemia_chronicMyelogenousK-56223.6
Leukemia_promyelocytic-HL-6045.4
Leukemialymphoblastic(MOLT-4)33.35
Liver35.85
Lung73
Lymphnode18.8
Lymphoma_burkitts(Daudi)68.4
Lymphoma_burkitts(Raji)72.15
MedullaOblongata12.85
OccipitalLobe15.6
OlfactoryBulb21.2
Ovary14.3
Pancreas18.55
PancreaticIslet26
ParietalLobe12.4
Pituitary25.25
Placenta46.2
Pons20.1
PrefrontalCortex18.1
Prostate41.15
Salivarygland10.5
SkeletalMuscle17.45
Skin17.3
SmoothMuscle31.85
Spinalcord19.15
SubthalamicNucleus18.75
SuperiorCervicalGanglion19.55
TemporalLobe15.7
Testis78.95
TestisGermCell36.5
TestisIntersitial33.95
TestisLeydigCell26.05
TestisSeminiferousTubule26.8
Thalamus14.1
Thymus26.35
Thyroid30.9
Tongue29.1
Tonsil22
Trachea15.1
TrigeminalGanglion16.5
Uterus20.5
UterusCorpus11.4
WholeBlood47.15
Wholebrain18
colon25.3
pineal_day27.2
pineal_night30.9
retina27.75
small_intestine23.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1778_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
Amygdala3.1 ± 0.9
Basal Forebrain2.76 ± 0.44
Basal Part of Pons3.34 ± 0.58
Cerebellar Cortex3.14 ± 0.55
Cerebellar Nuclei2.95 ± 0.51
Claustrum2.94 ± 0.68
Epithalamus2.68 ± 0.67
Frontal Lobe3.16 ± 0.61
Globus Pallidus2.83 ± 0.77
Hypothalamus2.49 ± 0.67
Insula3.04 ± 0.56
Limbic Lobe3.03 ± 0.52
Mesencephalon2.95 ± 0.68
Myelencephalon3 ± 0.59
Occipital Lobe2.86 ± 0.6
Parietal Lobe3.02 ± 0.61
Pontine Tegmentum2.85 ± 0.65
Striatum2.6 ± 0.67
Subthalamus2.78 ± 0.61
Temporal Lobe2.93 ± 0.64
Thalamus3.09 ± 0.52
White Matter2.86 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Reep4CBCerebellum11.37
9.48
Reep4CTXCerebral cortex13.4
6.61
Reep4HIPHippocampal region6.17
4.22
Reep4HPFHippocampal formation6.53
3.96
Reep4HYHypothalamus6.21
3.52
Reep4LSXLateral septal complex6.8
5.34
Reep4MBMidbrain13.15
8.76
Reep4MYMedulla28.91
21.33
Reep4OLFOlfactory bulb21.32
11.96
Reep4PPons19.09
14.59
Reep4PALPallidum8.9
5.47
Reep4RHPRetrohippocampal region6.89
3.33
Reep4sAMYStriatum-like amygdalar nuclei10.55
4.79
Reep4STRStriatum7.79
4.23
Reep4STRdStriatum dorsal region7.13
3.96
Reep4STRvStriatum ventral region9.52
4.48
Reep4THThalamus23.59
13.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00006625 16 124 139 RGLNIAASAAVQAATK 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