AutismKB 2.0

Annotation Detail for DENND5A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:DENND5A ( FLJ22354,FLJ33829,FLJ43455,KIAA1091,RAB6IP1 )
Gene Full Name: DENN/MADD domain containing 5A
Band: 11p15.4
Quick LinksEntrez ID:23258; OMIM: NA; Uniprot ID:DEN5A_HUMAN; ENSEMBL ID: ENSG00000184014; HGNC ID: 19344
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 body10 / 70761141
blastocyst8 / 62319128
fetus33 / 56401258
neonate0 / 310970 
infant10 / 23620423
juvenile1 / 5555617
adult83 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma11 / 82823132
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor14 / 26384553
glioma7 / 10688365
head and neck tumor13 / 13630295
kidney tumor11 / 68959159
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal197 / 336030758
ovarian tumor1 / 7668213
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer3 / 10268029
retinoblastoma6 / 46356129
skin tumor15 / 124949120
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood6 / 12347848
bone3 / 7165541
bone marrow7 / 48801143
brain117 / 1100989106
cervix3 / 4817162
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye20 / 21105494
heart6 / 8962666
intestine7 / 23447229
kidney13 / 21177761
larynx0 / 241450 
liver3 / 20774314
lung14 / 33697441
lymph0 / 442700 
lymph node2 / 9161021
mammary gland4 / 15327126
mouth4 / 6705259
muscle13 / 107715120
nerve1 / 1576863
ovary7 / 10205168
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta14 / 28082549
prostate6 / 18934531
salivary gland4 / 20155198
skin18 / 21057485
spleen3 / 5395255
stomach1 / 9661910
testis14 / 33044242
thymus2 / 8113124
thyroid5 / 47473105
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212561_at
Cell line Expression level Expression bar
721_B_lymphoblasts204.7
Adipocyte197.9
AdrenalCortex94.55
Adrenalgland82.7
Amygdala554.45
Appendix77.5
AtrioventricularNode54.05
BDCA4+_DentriticCells419.85
Bonemarrow90.35
BronchialEpithelialCells82.9
CD105+_Endothelial56.75
CD14+_Monocytes711.4
CD19+_BCells(neg._sel.)208.85
CD33+_Myeloid847.05
CD34+238.3
CD4+_Tcells456.45
CD56+_NKCells189
CD71+_EarlyErythroid17
CD8+_Tcells297.35
CardiacMyocytes285.7
Caudatenucleus335.05
Cerebellum305.85
CerebellumPeduncles396.55
CiliaryGanglion61.05
CingulateCortex169.85
Colorectaladenocarcinoma116.85
DorsalRootGanglion79.95
FetalThyroid116.4
Fetalbrain263.15
Fetalliver57
Fetallung181.25
GlobusPallidus108.35
Heart146.15
Hypothalamus895.45
Kidney55.05
Leukemia_chronicMyelogenousK-562103.15
Leukemia_promyelocytic-HL-6016.15
Leukemialymphoblastic(MOLT-4)55.05
Liver41.25
Lung204.2
Lymphnode122.75
Lymphoma_burkitts(Daudi)39.55
Lymphoma_burkitts(Raji)64
MedullaOblongata326.55
OccipitalLobe406.65
OlfactoryBulb313.25
Ovary67.55
Pancreas54.55
PancreaticIslet114.35
ParietalLobe546
Pituitary107
Placenta181.3
Pons192.35
PrefrontalCortex674.3
Prostate155.15
Salivarygland73.55
SkeletalMuscle104.55
Skin41.8
SmoothMuscle395.45
Spinalcord863.6
SubthalamicNucleus166.45
SuperiorCervicalGanglion112.45
TemporalLobe167.25
Testis93.85
TestisGermCell75.85
TestisIntersitial55.05
TestisLeydigCell64.25
TestisSeminiferousTubule94.25
Thalamus388.3
Thymus121.3
Thyroid148.15
Tongue90.5
Tonsil86.2
Trachea73.7
TrigeminalGanglion88.7
Uterus252.2
UterusCorpus194.95
WholeBlood725.15
Wholebrain562.45
colon89.15
pineal_day263.72
pineal_night319.54
retina523.05
small_intestine85.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12067_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
Amygdala6.74 ± 0.33
Basal Forebrain7.32 ± 0.28
Basal Part of Pons7.12 ± 0.43
Cerebellar Cortex7.01 ± 0.19
Cerebellar Nuclei7.58 ± 0.22
Claustrum6.74 ± 0.37
Epithalamus7.12 ± 0.48
Frontal Lobe7.01 ± 0.44
Globus Pallidus8.22 ± 0.34
Hypothalamus7.17 ± 0.16
Insula6.83 ± 0.47
Limbic Lobe6.84 ± 0.43
Mesencephalon7.15 ± 0.52
Myelencephalon7.13 ± 0.39
Occipital Lobe7.12 ± 0.46
Parietal Lobe7.11 ± 0.38
Pontine Tegmentum7.21 ± 0.36
Striatum7.25 ± 0.51
Subthalamus7.23 ± 0.5
Temporal Lobe7.02 ± 0.32
Thalamus7.42 ± 0.35
White Matter8.94 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rab6ip1CBCerebellum100
88.71
Rab6ip1CTXCerebral cortex84.55
55.81
Rab6ip1HIPHippocampal region90.47
79.67
Rab6ip1HPFHippocampal formation91.33
72.82
Rab6ip1HYHypothalamus83.54
54.7
Rab6ip1LSXLateral septal complex76.08
48.35
Rab6ip1MBMidbrain86.93
66.66
Rab6ip1MYMedulla100
91.07
Rab6ip1OLFOlfactory bulb100
70.52
Rab6ip1PPons97.05
86.69
Rab6ip1PALPallidum73.3
56.02
Rab6ip1RHPRetrohippocampal region86.66
64.3
Rab6ip1sAMYStriatum-like amygdalar nuclei62.2
37.5
Rab6ip1STRStriatum72.59
45.28
Rab6ip1STRdStriatum dorsal region71.62
45.8
Rab6ip1STRvStriatum ventral region83.65
47.62
Rab6ip1THThalamus80.84
63.08
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved