AutismKB 2.0

Annotation Detail for HPS6


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Basic Information Top
Gene Symbol:HPS6 ( FLJ22501,MGC20522,RP11-302K17.1 )
Gene Full Name: Hermansky-Pudlak syndrome 6
Band: 10q24.32
Quick LinksEntrez ID:79803; OMIM: 607522; Uniprot ID:HPS6_HUMAN; ENSEMBL ID: ENSG00000166189; HGNC ID: 18817
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
fetus14 / 56401224
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult42 / 193912121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma5 / 7175569
non-neoplasia1 / 9725010
normal63 / 336030718
ovarian tumor12 / 76682156
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow1 / 4880120
brain8 / 11009897
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye7 / 21105433
heart2 / 8962622
intestine1 / 2344724
kidney7 / 21177733
larynx0 / 241450 
liver1 / 2077434
lung18 / 33697453
lymph5 / 44270112
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve2 / 15768126
ovary13 / 102051127
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219052_at
Cell line Expression level Expression bar
721_B_lymphoblasts76.15
Adipocyte38.6
AdrenalCortex35.85
Adrenalgland29.65
Amygdala37.95
Appendix35.15
AtrioventricularNode26.05
BDCA4+_DentriticCells41
Bonemarrow34.65
BronchialEpithelialCells47.3
CD105+_Endothelial36.45
CD14+_Monocytes53.15
CD19+_BCells(neg._sel.)38.75
CD33+_Myeloid46.9
CD34+63.2
CD4+_Tcells39.6
CD56+_NKCells83.2
CD71+_EarlyErythroid33.95
CD8+_Tcells35.1
CardiacMyocytes51.25
Caudatenucleus31.75
Cerebellum28.75
CerebellumPeduncles39.95
CiliaryGanglion24.15
CingulateCortex37.8
Colorectaladenocarcinoma40.85
DorsalRootGanglion26.4
FetalThyroid29.6
Fetalbrain35.9
Fetalliver30.5
Fetallung26.7
GlobusPallidus25.5
Heart44.35
Hypothalamus32.95
Kidney28.2
Leukemia_chronicMyelogenousK-56232.45
Leukemia_promyelocytic-HL-6033.9
Leukemialymphoblastic(MOLT-4)32.6
Liver46.8
Lung39.8
Lymphnode31.05
Lymphoma_burkitts(Daudi)47.05
Lymphoma_burkitts(Raji)48.8
MedullaOblongata32.7
OccipitalLobe32.15
OlfactoryBulb28.05
Ovary23.2
Pancreas28.35
PancreaticIslet37.9
ParietalLobe36.8
Pituitary41.8
Placenta47.4
Pons33.6
PrefrontalCortex38.75
Prostate42.45
Salivarygland28
SkeletalMuscle39.15
Skin26.4
SmoothMuscle40.75
Spinalcord39.05
SubthalamicNucleus31.85
SuperiorCervicalGanglion39.05
TemporalLobe32.25
Testis31.1
TestisGermCell30.35
TestisIntersitial27.7
TestisLeydigCell35
TestisSeminiferousTubule30.7
Thalamus35.9
Thymus28.6
Thyroid45.15
Tongue34.1
Tonsil39.55
Trachea33.3
TrigeminalGanglion34.25
Uterus25.45
UterusCorpus32.45
WholeBlood44.3
Wholebrain30.95
colon35.3
pineal_day58.56
pineal_night50.08
retina43.5
small_intestine34.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16644_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
Amygdala2.7 ± 0.88
Basal Forebrain2.43 ± 0.41
Basal Part of Pons2.91 ± 0.85
Cerebellar Cortex2.87 ± 0.55
Cerebellar Nuclei2.53 ± 0.46
Claustrum2.68 ± 0.77
Epithalamus2.27 ± 0.65
Frontal Lobe2.77 ± 0.57
Globus Pallidus2.42 ± 0.77
Hypothalamus2.49 ± 0.84
Insula2.51 ± 0.73
Limbic Lobe2.65 ± 0.73
Mesencephalon2.74 ± 0.66
Myelencephalon2.68 ± 0.68
Occipital Lobe2.32 ± 0.58
Parietal Lobe2.55 ± 0.68
Pontine Tegmentum2.44 ± 0.61
Striatum2.22 ± 0.7
Subthalamus2.52 ± 0.69
Temporal Lobe2.74 ± 0.74
Thalamus2.43 ± 0.6
White Matter2.1 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hps6CBCerebellum6.74
9.12
Hps6CTXCerebral cortex15.2
11.54
Hps6HIPHippocampal region15.5
16.22
Hps6HPFHippocampal formation10.79
10.64
Hps6HYHypothalamus1.46
1.32
Hps6LSXLateral septal complex0.32
0.2
Hps6MBMidbrain3.07
4.34
Hps6MYMedulla4.24
5.8
Hps6OLFOlfactory bulb6.04
6.14
Hps6PPons3.02
4.39
Hps6PALPallidum1.42
1.36
Hps6RHPRetrohippocampal region3.21
3.11
Hps6sAMYStriatum-like amygdalar nuclei0.76
1.2
Hps6STRStriatum1.75
1.63
Hps6STRdStriatum dorsal region2.38
2.22
Hps6STRvStriatum ventral region1.22
1.04
Hps6THThalamus4.71
4.17
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00499183 20 353 372 VHLLEPPAPGMEDEEELETR 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


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