AutismKB 2.0

Annotation Detail for REEP6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:REEP6 ( C19orf32,DP1L1,FLJ25383,TB2L1 )
Gene Full Name: receptor accessory protein 6
Band: 19p13.3
Quick LinksEntrez ID:92840; OMIM: 609346; Uniprot ID:REEP6_HUMAN; ENSEMBL ID: ENSG00000115255; HGNC ID: 30078
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 body3 / 7076142
blastocyst2 / 6231932
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult52 / 193912126
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor5 / 9635951
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal68 / 336030720
ovarian tumor5 / 7668265
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow3 / 4880161
brain26 / 110098923
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye9 / 21105442
heart1 / 8962611
intestine10 / 23447242
kidney1 / 2117774
larynx0 / 241450 
liver6 / 20774328
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary5 / 10205148
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate6 / 18934531
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis23 / 33044269
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_891_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
Amygdala4.85 ± 0.32
Basal Forebrain4.89 ± 0.35
Basal Part of Pons5.51 ± 0.21
Cerebellar Cortex4.78 ± 0.35
Cerebellar Nuclei4.84 ± 0.51
Claustrum4.9 ± 0.64
Epithalamus4.71 ± 0.51
Frontal Lobe5.12 ± 0.47
Globus Pallidus4.79 ± 0.45
Hypothalamus4.78 ± 0.66
Insula4.99 ± 0.5
Limbic Lobe4.97 ± 0.44
Mesencephalon4.84 ± 0.55
Myelencephalon4.98 ± 0.45
Occipital Lobe4.97 ± 0.4
Parietal Lobe4.99 ± 0.43
Pontine Tegmentum4.84 ± 0.44
Striatum5.02 ± 0.44
Subthalamus4.78 ± 0.18
Temporal Lobe4.99 ± 0.46
Thalamus5.09 ± 0.33
White Matter4.25 ± 0.7
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Reep6CBCerebellum2.5
2.55
Reep6CTXCerebral cortex4.23
3.27
Reep6HIPHippocampal region6.26
6.79
Reep6HPFHippocampal formation5.05
5.04
Reep6HYHypothalamus0.93
1.46
Reep6LSXLateral septal complex0.2
0.18
Reep6MBMidbrain0.66
0.93
Reep6MYMedulla2.53
3.6
Reep6OLFOlfactory bulb6.81
5.37
Reep6PPons1.95
2.73
Reep6PALPallidum0.46
0.36
Reep6RHPRetrohippocampal region3.19
2.78
Reep6sAMYStriatum-like amygdalar nuclei0.68
0.94
Reep6STRStriatum1.17
1
Reep6STRdStriatum dorsal region0.45
0.46
Reep6STRvStriatum ventral region4.51
3.19
Reep6THThalamus0.5
0.64
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00075528 13 16 28 NLVTEVLGALEAK Peptide Atlas
REEP6_HUMAN_15 13 15 27 NLVTEVLGALEAK PRIDE

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