AutismKB 2.0

Annotation Detail for PACS2


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Basic Information Top
Gene Symbol:PACS2 ( FLJ25488,KIAA0602,PACS1L )
Gene Full Name: phosphofurin acidic cluster sorting protein 2
Band: 14q32.33
Quick LinksEntrez ID:23241; OMIM: 610423; Uniprot ID:PACS2_HUMAN; ENSEMBL ID: ENSG00000179364; HGNC ID: 23794
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
blastocyst3 / 6231948
fetus37 / 56401265
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult109 / 193912156
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) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor4 / 26384515
glioma10 / 10688393
head and neck tumor5 / 13630236
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor6 / 10312758
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal165 / 336030749
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor17 / 124949136
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood2 / 12347816
bone5 / 7165569
bone marrow2 / 4880140
brain75 / 110098968
cervix2 / 4817141
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye10 / 21105447
heart4 / 8962644
intestine12 / 23447251
kidney9 / 21177742
larynx2 / 2414582
liver3 / 20774314
lung17 / 33697450
lymph0 / 442700 
lymph node3 / 9161032
mammary gland10 / 15327165
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary5 / 10205148
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate10 / 18934552
salivary gland2 / 2015599
skin17 / 21057480
spleen2 / 5395237
stomach0 / 966190 
testis11 / 33044233
thymus4 / 8113149
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212778_at
Cell line Expression level Expression bar
721_B_lymphoblasts15.1
Adipocyte13.55
AdrenalCortex18.9
Adrenalgland14.65
Amygdala33.7
Appendix13.2
AtrioventricularNode12.65
BDCA4+_DentriticCells43.55
Bonemarrow13.65
BronchialEpithelialCells13.4
CD105+_Endothelial15.5
CD14+_Monocytes20.7
CD19+_BCells(neg._sel.)23.15
CD33+_Myeloid21.9
CD34+26.55
CD4+_Tcells25.7
CD56+_NKCells22.6
CD71+_EarlyErythroid13.55
CD8+_Tcells27
CardiacMyocytes17.1
Caudatenucleus31.6
Cerebellum15.6
CerebellumPeduncles23.5
CiliaryGanglion9.85
CingulateCortex18.65
Colorectaladenocarcinoma33.25
DorsalRootGanglion13.25
FetalThyroid17.7
Fetalbrain35.95
Fetalliver9.05
Fetallung13.55
GlobusPallidus13.4
Heart39.3
Hypothalamus65.2
Kidney12.95
Leukemia_chronicMyelogenousK-56211.3
Leukemia_promyelocytic-HL-6014.45
Leukemialymphoblastic(MOLT-4)16.7
Liver19.85
Lung39.25
Lymphnode14.15
Lymphoma_burkitts(Daudi)18.35
Lymphoma_burkitts(Raji)31.7
MedullaOblongata26.25
OccipitalLobe35.15
OlfactoryBulb24.75
Ovary10.7
Pancreas14.85
PancreaticIslet32.75
ParietalLobe32.85
Pituitary22.95
Placenta15.65
Pons19.9
PrefrontalCortex75.1
Prostate28.6
Salivarygland9.5
SkeletalMuscle21.75
Skin10.8
SmoothMuscle16.75
Spinalcord93.6
SubthalamicNucleus13.2
SuperiorCervicalGanglion15.6
TemporalLobe16.7
Testis28.65
TestisGermCell18.65
TestisIntersitial13.45
TestisLeydigCell16.6
TestisSeminiferousTubule16.15
Thalamus56.4
Thymus20.3
Thyroid35.65
Tongue16
Tonsil14.8
Trachea11.8
TrigeminalGanglion17.7
Uterus30.65
UterusCorpus14.1
WholeBlood14.6
Wholebrain45.95
colon10.45
pineal_day37.1
pineal_night34.52
retina40.575
small_intestine10.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P255628
  • 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 ± 0.47
Basal Forebrain6.1 ± 0.34
Basal Part of Pons6.19 ± 0.47
Cerebellar Cortex5.93 ± 0.31
Cerebellar Nuclei6.52 ± 0.42
Claustrum6.12 ± 0.45
Epithalamus5.65 ± 0.46
Frontal Lobe5.91 ± 0.43
Globus Pallidus7.11 ± 0.27
Hypothalamus5.65 ± 0.14
Insula5.82 ± 0.24
Limbic Lobe5.99 ± 0.56
Mesencephalon6.14 ± 0.54
Myelencephalon6.09 ± 0.42
Occipital Lobe6.21 ± 0.44
Parietal Lobe5.99 ± 0.41
Pontine Tegmentum5.99 ± 0.53
Striatum6.41 ± 0.55
Subthalamus6.09 ± 0.02
Temporal Lobe5.91 ± 0.35
Thalamus6.26 ± 0.31
White Matter7.6 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pacs2CBCerebellum50.4
58.4
Pacs2CTXCerebral cortex39.63
30.61
Pacs2HIPHippocampal region31.79
34.66
Pacs2HPFHippocampal formation37.55
35.95
Pacs2HYHypothalamus59.73
51.98
Pacs2LSXLateral septal complex62.7
50.17
Pacs2MBMidbrain80.14
77.28
Pacs2MYMedulla98.81
100
Pacs2OLFOlfactory bulb45.75
36.76
Pacs2PPons100
100
Pacs2PALPallidum67.84
65.93
Pacs2RHPRetrohippocampal region44.77
36.32
Pacs2sAMYStriatum-like amygdalar nuclei46.8
40.45
Pacs2STRStriatum52.84
46.43
Pacs2STRdStriatum dorsal region58.18
54.3
Pacs2STRvStriatum ventral region36.83
26.66
Pacs2THThalamus73.32
65.81
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00423580 30 131 160 TLAAGSISMAEVMQHPSEGGQVLSLCSSIK 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