AutismKB 2.0

Annotation Detail for HPS5


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Basic Information Top
Gene Symbol:HPS5 ( AIBP63,KIAA1017 )
Gene Full Name: Hermansky-Pudlak syndrome 5
Band: 11p15.1
Quick LinksEntrez ID:11234; OMIM: 607521; Uniprot ID:HPS5_HUMAN; ENSEMBL ID: ENSG00000110756; HGNC ID: 17022
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 body2 / 7076128
blastocyst0 / 623190 
fetus20 / 56401235
neonate4 / 31097128
infant0 / 236200 
juvenile0 / 555560 
adult61 / 193912131
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) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma6 / 7175583
non-neoplasia4 / 9725041
normal125 / 336030737
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma4 / 4635686
skin tumor6 / 12494948
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone3 / 7165541
bone marrow0 / 488010 
brain24 / 110098921
cervix0 / 481710 
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine0 / 2344720 
kidney5 / 21177723
larynx1 / 2414541
liver2 / 2077439
lung9 / 33697426
lymph0 / 442700 
lymph node14 / 91610152
mammary gland14 / 15327191
mouth5 / 6705274
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland2 / 16585120
placenta14 / 28082549
prostate3 / 18934515
salivary gland0 / 201550 
skin18 / 21057485
spleen1 / 5395218
stomach4 / 9661941
testis29 / 33044287
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord2 / 13680146
uterus9 / 23287838
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204544_at
Cell line Expression level Expression bar
721_B_lymphoblasts34.75
Adipocyte15.25
AdrenalCortex15.4
Adrenalgland10.3
Amygdala11.75
Appendix14.15
AtrioventricularNode10.05
BDCA4+_DentriticCells83.95
Bonemarrow11.2
BronchialEpithelialCells12.2
CD105+_Endothelial10.75
CD14+_Monocytes56.5
CD19+_BCells(neg._sel.)46.85
CD33+_Myeloid51.8
CD34+13.05
CD4+_Tcells19.9
CD56+_NKCells26.3
CD71+_EarlyErythroid9.4
CD8+_Tcells20.75
CardiacMyocytes33.1
Caudatenucleus8.55
Cerebellum8.05
CerebellumPeduncles12.4
CiliaryGanglion8.45
CingulateCortex10.9
Colorectaladenocarcinoma19.9
DorsalRootGanglion10.2
FetalThyroid10.5
Fetalbrain10.5
Fetalliver9.25
Fetallung10.2
GlobusPallidus8.5
Heart15.1
Hypothalamus11.3
Kidney8.9
Leukemia_chronicMyelogenousK-5629.65
Leukemia_promyelocytic-HL-6011.5
Leukemialymphoblastic(MOLT-4)10.95
Liver14.75
Lung11.75
Lymphnode9.85
Lymphoma_burkitts(Daudi)20.35
Lymphoma_burkitts(Raji)20.2
MedullaOblongata8.95
OccipitalLobe9.3
OlfactoryBulb28.6
Ovary8.55
Pancreas8.65
PancreaticIslet11.6
ParietalLobe11.6
Pituitary18.55
Placenta12.35
Pons10.2
PrefrontalCortex12.35
Prostate12
Salivarygland9.65
SkeletalMuscle14.15
Skin9
SmoothMuscle12.8
Spinalcord11.35
SubthalamicNucleus9.9
SuperiorCervicalGanglion15.2
TemporalLobe9.55
Testis9.1
TestisGermCell58.05
TestisIntersitial10.8
TestisLeydigCell14
TestisSeminiferousTubule13.65
Thalamus10.55
Thymus8.2
Thyroid17.75
Tongue11.3
Tonsil10.95
Trachea8.85
TrigeminalGanglion26.95
Uterus10.2
UterusCorpus10.1
WholeBlood15.5
Wholebrain7.55
colon10.35
pineal_day33.96
pineal_night45.98
retina12.975
small_intestine10.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7181_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
Amygdala5.12 ± 0.49
Basal Forebrain5.4 ± 0.23
Basal Part of Pons5.08 ± 0.28
Cerebellar Cortex5.35 ± 0.21
Cerebellar Nuclei5.26 ± 0.49
Claustrum4.76 ± 0.5
Epithalamus5.53 ± 0.37
Frontal Lobe5 ± 0.42
Globus Pallidus5.97 ± 0.46
Hypothalamus5.23 ± 0.35
Insula4.89 ± 0.49
Limbic Lobe4.87 ± 0.49
Mesencephalon5.18 ± 0.48
Myelencephalon5.12 ± 0.48
Occipital Lobe5.22 ± 0.47
Parietal Lobe5.07 ± 0.44
Pontine Tegmentum5.23 ± 0.5
Striatum5.2 ± 0.41
Subthalamus4.74 ± 0.39
Temporal Lobe5.04 ± 0.4
Thalamus5.34 ± 0.42
White Matter6.69 ± 0.32
Mouse Brain ISH
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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