AutismKB 2.0

Annotation Detail for PACS1


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Basic Information Top
Gene Symbol:PACS1 ( FLJ10209,KIAA1175 )
Gene Full Name: phosphofurin acidic cluster sorting protein 1
Band: 11q13.1-q13.2
Quick LinksEntrez ID:55690; OMIM: 607492; Uniprot ID:PACS1_HUMAN; ENSEMBL ID: ENSG00000175115; HGNC ID: 30032
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 body7 / 7076198
blastocyst2 / 6231932
fetus43 / 56401276
neonate0 / 310970 
infant2 / 2362084
juvenile3 / 5555653
adult159 / 193912181
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) tumor22 / 94178233
cervical tumor4 / 34366116
chondrosarcoma9 / 82823108
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor6 / 26384522
glioma7 / 10688365
head and neck tumor18 / 136302132
kidney tumor15 / 68959217
leukemia7 / 9584273
liver tumor14 / 96359145
lung tumor10 / 10312796
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal211 / 336030762
ovarian tumor13 / 76682169
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer22 / 102680214
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder2 / 2975767
blood10 / 12347880
bone4 / 7165555
bone marrow0 / 488010 
brain77 / 110098969
cervix5 / 48171103
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye22 / 211054104
heart9 / 89626100
intestine9 / 23447238
kidney16 / 21177775
larynx5 / 24145207
liver17 / 20774381
lung19 / 33697456
lymph1 / 4427022
lymph node15 / 91610163
mammary gland26 / 153271169
mouth4 / 6705259
muscle2 / 10771518
nerve3 / 15768190
ovary15 / 102051146
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate31 / 189345163
salivary gland5 / 20155248
skin6 / 21057428
spleen2 / 5395237
stomach2 / 9661920
testis22 / 33044266
thymus17 / 81131209
thyroid6 / 47473126
tonsil4 / 16999235
trachea3 / 5241357
umbilical cord1 / 1368073
uterus12 / 23287851
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220557_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.7
Adipocyte9.85
AdrenalCortex14.9
Adrenalgland9.45
Amygdala9.8
Appendix16.5
AtrioventricularNode13.65
BDCA4+_DentriticCells10.25
Bonemarrow12.6
BronchialEpithelialCells10.2
CD105+_Endothelial10.9
CD14+_Monocytes11.6
CD19+_BCells(neg._sel.)14.35
CD33+_Myeloid12.5
CD34+12.8
CD4+_Tcells10.25
CD56+_NKCells14.7
CD71+_EarlyErythroid10.15
CD8+_Tcells9.7
CardiacMyocytes23.7
Caudatenucleus9.7
Cerebellum8.7
CerebellumPeduncles12.2
CiliaryGanglion11.3
CingulateCortex11.5
Colorectaladenocarcinoma10.95
DorsalRootGanglion12.75
FetalThyroid13.1
Fetalbrain13.1
Fetalliver9.3
Fetallung8.95
GlobusPallidus8.95
Heart20.65
Hypothalamus10.6
Kidney9.3
Leukemia_chronicMyelogenousK-5629.75
Leukemia_promyelocytic-HL-609.6
Leukemialymphoblastic(MOLT-4)7.9
Liver15.5
Lung11.25
Lymphnode10.7
Lymphoma_burkitts(Daudi)13.85
Lymphoma_burkitts(Raji)17.45
MedullaOblongata9.25
OccipitalLobe9.15
OlfactoryBulb8.2
Ovary7.95
Pancreas8.85
PancreaticIslet11.85
ParietalLobe12.95
Pituitary12.5
Placenta10.8
Pons10.3
PrefrontalCortex12
Prostate11.45
Salivarygland9.05
SkeletalMuscle19.75
Skin11.4
SmoothMuscle12.15
Spinalcord10.75
SubthalamicNucleus10.65
SuperiorCervicalGanglion20
TemporalLobe10.35
Testis9.35
TestisGermCell8.75
TestisIntersitial9.05
TestisLeydigCell10.7
TestisSeminiferousTubule9.3
Thalamus10.9
Thymus7.95
Thyroid13.7
Tongue12.15
Tonsil11.2
Trachea9.4
TrigeminalGanglion14.45
Uterus8.15
UterusCorpus11.4
WholeBlood11.85
Wholebrain7.55
colon10.25
pineal_day12.42
pineal_night12.46
retina12.025
small_intestine9.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P69784
  • 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
Amygdala5.56 ± 0.6
Basal Forebrain5.89 ± 0.21
Basal Part of Pons5.87 ± 0.39
Cerebellar Cortex5.97 ± 0.4
Cerebellar Nuclei5.16 ± 0.44
Claustrum5.24 ± 0.71
Epithalamus5.55 ± 0.61
Frontal Lobe5.86 ± 0.52
Globus Pallidus4.83 ± 0.31
Hypothalamus5.58 ± 0.74
Insula5.91 ± 0.47
Limbic Lobe5.77 ± 0.64
Mesencephalon5.69 ± 0.46
Myelencephalon5.72 ± 0.55
Occipital Lobe5.48 ± 0.54
Parietal Lobe5.66 ± 0.49
Pontine Tegmentum5.63 ± 0.63
Striatum5.78 ± 0.49
Subthalamus5.57 ± 0.4
Temporal Lobe5.89 ± 0.47
Thalamus5.67 ± 0.5
White Matter4.21 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pacs1CBCerebellum26.46
30.05
Pacs1CTXCerebral cortex98.12
89.41
Pacs1HIPHippocampal region49.2
92.31
Pacs1HPFHippocampal formation62.11
86.15
Pacs1HYHypothalamus27.92
24.74
Pacs1LSXLateral septal complex27.25
23.96
Pacs1MBMidbrain22.4
21.39
Pacs1MYMedulla25.76
27.85
Pacs1OLFOlfactory bulb67.84
63.82
Pacs1PPons21.28
23.99
Pacs1PALPallidum26.83
27.2
Pacs1RHPRetrohippocampal region85.53
82.64
Pacs1sAMYStriatum-like amygdalar nuclei57.37
47.19
Pacs1STRStriatum44.46
35.75
Pacs1STRdStriatum dorsal region43.15
34.72
Pacs1STRvStriatum ventral region51.34
39.1
Pacs1THThalamus17.33
16.81
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00031838 24 710 733 VMQYVNGAATTHQLPVAEAMLTCR 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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