AutismKB 2.0

Annotation Detail for PDCD6IP


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Basic Information Top
Gene Symbol:PDCD6IP ( AIP1,Alix,DRIP4,HP95,MGC17003 )
Gene Full Name: programmed cell death 6 interacting protein
Band: 3p22.3
Quick LinksEntrez ID:10015; OMIM: 608074; Uniprot ID:PDC6I_HUMAN; ENSEMBL ID: ENSG00000170248; HGNC ID: 8766
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 body12 / 70761169
blastocyst8 / 62319128
fetus79 / 564012140
neonate2 / 3109764
infant0 / 236200 
juvenile5 / 5555689
adult271 / 1939121139
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor24 / 94178254
cervical tumor4 / 34366116
chondrosarcoma11 / 82823132
colorectal tumor9 / 11424678
esophageal tumor5 / 17290289
gastrointestinal tumor17 / 119369142
germ cell tumor40 / 263845151
glioma9 / 10688384
head and neck tumor25 / 136302183
kidney tumor8 / 68959116
leukemia29 / 95842302
liver tumor7 / 9635972
lung tumor15 / 103127145
lymphoma10 / 71755139
non-neoplasia23 / 97250236
normal430 / 3360307127
ovarian tumor0 / 766820 
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer32 / 102680311
retinoblastoma5 / 46356107
skin tumor20 / 124949160
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor20 / 90257221
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites1 / 4001524
bladder2 / 2975767
blood23 / 123478186
bone10 / 71655139
bone marrow18 / 48801368
brain134 / 1100989121
cervix4 / 4817183
connective tissue26 / 149255174
ear10 / 16212616
embryonic tissue33 / 215722152
esophagus5 / 20209247
eye30 / 211054142
heart11 / 89626122
intestine21 / 23447289
kidney27 / 211777127
larynx1 / 2414541
liver17 / 20774381
lung60 / 336974178
lymph1 / 4427022
lymph node27 / 91610294
mammary gland33 / 153271215
mouth24 / 67052357
muscle13 / 107715120
nerve2 / 15768126
ovary2 / 10205119
pancreas13 / 21481260
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta47 / 280825167
prostate36 / 189345190
salivary gland2 / 2015599
skin27 / 210574128
spleen3 / 5395255
stomach19 / 96619196
testis70 / 330442211
thymus22 / 81131271
thyroid6 / 47473126
tonsil0 / 169990 
trachea18 / 52413343
umbilical cord1 / 1368073
uterus35 / 232878150
vascular28 / 51780540
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217746_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts715
Adipocyte560
AdrenalCortex188.6
Adrenalgland197.55
Amygdala283.05
Appendix238.6
AtrioventricularNode135.95
BDCA4+_DentriticCells949.25
Bonemarrow197.6
BronchialEpithelialCells962.15
CD105+_Endothelial684.65
CD14+_Monocytes1011.95
CD19+_BCells(neg._sel.)1012.65
CD33+_Myeloid1883.9
CD34+1238.1
CD4+_Tcells727.55
CD56+_NKCells1180.35
CD71+_EarlyErythroid277.35
CD8+_Tcells878.4
CardiacMyocytes386.45
Caudatenucleus136.4
Cerebellum67.25
CerebellumPeduncles167.35
CiliaryGanglion118.6
CingulateCortex84.7
Colorectaladenocarcinoma685.65
DorsalRootGanglion246.1
FetalThyroid413.55
Fetalbrain194.15
Fetalliver219.1
Fetallung398.1
GlobusPallidus62.15
Heart156.15
Hypothalamus286.7
Kidney167.7
Leukemia_chronicMyelogenousK-562524.6
Leukemia_promyelocytic-HL-60575.3
Leukemialymphoblastic(MOLT-4)322.15
Liver164.9
Lung496.85
Lymphnode472.2
Lymphoma_burkitts(Daudi)611.7
Lymphoma_burkitts(Raji)510.9
MedullaOblongata123.95
OccipitalLobe173.85
OlfactoryBulb344.6
Ovary172
Pancreas320.45
PancreaticIslet407.75
ParietalLobe140.65
Pituitary281.85
Placenta534.3
Pons112.05
PrefrontalCortex238.5
Prostate531.4
Salivarygland272.55
SkeletalMuscle66.15
Skin253.8
SmoothMuscle614.2
Spinalcord262.85
SubthalamicNucleus111.8
SuperiorCervicalGanglion207.8
TemporalLobe63.15
Testis212.5
TestisGermCell447
TestisIntersitial465.9
TestisLeydigCell381.35
TestisSeminiferousTubule380.9
Thalamus143
Thymus239.6
Thyroid463.35
Tongue411.5
Tonsil538.55
Trachea283.55
TrigeminalGanglion254
Uterus369.05
UterusCorpus179.95
WholeBlood742.65
Wholebrain156.7
colon798.3
pineal_day158.64
pineal_night226.3
retina262.1
small_intestine394.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P22338
  • 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
Amygdala7.84 ± 0.29
Basal Forebrain8.04 ± 0.15
Basal Part of Pons8.43 ± 0.14
Cerebellar Cortex7.91 ± 0.2
Cerebellar Nuclei8.09 ± 0.34
Claustrum8.13 ± 0.24
Epithalamus8.16 ± 0.19
Frontal Lobe7.97 ± 0.26
Globus Pallidus8.46 ± 0.17
Hypothalamus7.88 ± 0.23
Insula7.91 ± 0.19
Limbic Lobe8.01 ± 0.23
Mesencephalon8.05 ± 0.27
Myelencephalon8.02 ± 0.27
Occipital Lobe8.31 ± 0.31
Parietal Lobe8.08 ± 0.21
Pontine Tegmentum7.94 ± 0.23
Striatum7.97 ± 0.22
Subthalamus7.94 ± 0.29
Temporal Lobe7.96 ± 0.25
Thalamus8.12 ± 0.21
White Matter8.71 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdcd6ipCBCerebellum5.2
5.77
Pdcd6ipCTXCerebral cortex4.9
3.51
Pdcd6ipHIPHippocampal region11.06
10.44
Pdcd6ipHPFHippocampal formation8.03
6.95
Pdcd6ipHYHypothalamus3.83
3.27
Pdcd6ipLSXLateral septal complex0.43
0.27
Pdcd6ipMBMidbrain3.51
4.09
Pdcd6ipMYMedulla4.61
6.79
Pdcd6ipOLFOlfactory bulb5.42
4.91
Pdcd6ipPPons5.98
9.14
Pdcd6ipPALPallidum5.54
5.05
Pdcd6ipRHPRetrohippocampal region3.36
2.47
Pdcd6ipsAMYStriatum-like amygdalar nuclei2.54
1.69
Pdcd6ipSTRStriatum2.45
1.76
Pdcd6ipSTRdStriatum dorsal region2.77
2.02
Pdcd6ipSTRvStriatum ventral region1.84
1.33
Pdcd6ipTHThalamus4.62
3.76
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000790 16 502 517 AVQADGQVKECYQSHR Peptide Atlas
PDC6I_HUMAN_0 0 0 0 DLDPIGKATLVKSTPVNVPISQK PRIDE
PDC6I_HUMAN_0 0 0 0 FYNELTEILVR PRIDE
PDC6I_HUMAN_0 0 0 0 NLATAYDNFVELVANLK PRIDE
PDC6I_HUMAN_0 0 0 0 SVIEQGGIQTVDQLIK PRIDE
PDC6I_HUMAN_10 13 10 22 KTSEVDLAKPLVK PRIDE
PDC6I_HUMAN_110 10 110 119 LALASLGYEK PRIDE
PDC6I_HUMAN_151 13 151 163 HYQFASGAFLHIK PRIDE
PDC6I_HUMAN_215 14 215 228 LANQAADYFGDAFK PRIDE
PDC6I_HUMAN_23 18 23 40 FIQQTYPSGGEEQAQYCR PRIDE
PDC6I_HUMAN_239 9 239 247 EVFPVLAAK PRIDE
PDC6I_HUMAN_248 17 248 264 HCIMQANAEYHQSILAK PRIDE
PDC6I_HUMAN_339 11 339 349 STPVNVPISQK PRIDE
PDC6I_HUMAN_357 16 357 372 MVPVSVQQSLAAYNQR PRIDE
PDC6I_HUMAN_422 16 422 437 SVIEQGGIQTVDQLIK PRIDE
PDC6I_HUMAN_438 8 438 445 ELPELLQR PRIDE
PDC6I_HUMAN_456 13 456 468 LLDEEEATDNDLR PRIDE
PDC6I_HUMAN_478 11 478 488 TPSNELYKPLR PRIDE
PDC6I_HUMAN_51 19 51 69 AAVGRPLDKHEGALETLLR PRIDE
PDC6I_HUMAN_541 12 541 552 TMQGSEVVNVLK PRIDE
PDC6I_HUMAN_57 14 57 70 PLDKHEGALETLLR PRIDE
PDC6I_HUMAN_654 17 654 670 NLATAYDNFVELVANLK PRIDE
PDC6I_HUMAN_675 11 675 685 FYNELTEILVR PRIDE
PDC6I_HUMAN_70 11 70 80 YYDQICSIEPK 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


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