AutismKB 2.0

Annotation Detail for PACSIN2


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Basic Information Top
Gene Symbol:PACSIN2 ( SDPII )
Gene Full Name: protein kinase C and casein kinase substrate in neurons 2
Band: 22q13.2
Quick LinksEntrez ID:11252; OMIM: 604960; Uniprot ID:PACN2_HUMAN; ENSEMBL ID: ENSG00000100266; HGNC ID: 8571
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 body13 / 70761183
blastocyst7 / 62319112
fetus35 / 56401262
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult172 / 193912188
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) tumor13 / 94178138
cervical tumor3 / 3436687
chondrosarcoma13 / 82823156
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor62 / 119369519
germ cell tumor12 / 26384545
glioma8 / 10688374
head and neck tumor27 / 136302198
kidney tumor10 / 68959145
leukemia29 / 95842302
liver tumor3 / 9635931
lung tumor5 / 10312748
lymphoma5 / 7175569
non-neoplasia11 / 97250113
normal257 / 336030776
ovarian tumor4 / 7668252
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer17 / 102680165
retinoblastoma2 / 4635643
skin tumor20 / 124949160
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites53 / 400151324
bladder0 / 297570 
blood27 / 123478218
bone8 / 71655111
bone marrow6 / 48801122
brain58 / 110098952
cervix3 / 4817162
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus0 / 202090 
eye12 / 21105456
heart8 / 8962689
intestine23 / 23447298
kidney15 / 21177770
larynx1 / 2414541
liver66 / 207743317
lung33 / 33697497
lymph5 / 44270112
lymph node8 / 9161087
mammary gland20 / 153271130
mouth20 / 67052298
muscle7 / 10771564
nerve1 / 1576863
ovary2 / 10205119
pancreas13 / 21481260
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta17 / 28082560
prostate19 / 189345100
salivary gland1 / 2015549
skin39 / 210574185
spleen0 / 539520 
stomach13 / 96619134
testis8 / 33044224
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus19 / 23287881
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201651_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts363.1
Adipocyte39.7
AdrenalCortex180.5
Adrenalgland329.9
Amygdala128.85
Appendix18.5
AtrioventricularNode15.3
BDCA4+_DentriticCells349.2
Bonemarrow79.95
BronchialEpithelialCells77.9
CD105+_Endothelial147.4
CD14+_Monocytes319.95
CD19+_BCells(neg._sel.)191.65
CD33+_Myeloid247.25
CD34+239.45
CD4+_Tcells127.85
CD56+_NKCells263
CD71+_EarlyErythroid29.25
CD8+_Tcells113.35
CardiacMyocytes66.3
Caudatenucleus29.25
Cerebellum129.85
CerebellumPeduncles122.6
CiliaryGanglion15.95
CingulateCortex72.35
Colorectaladenocarcinoma144.8
DorsalRootGanglion15.3
FetalThyroid121.55
Fetalbrain70.25
Fetalliver25.35
Fetallung153.3
GlobusPallidus35
Heart67.15
Hypothalamus175.15
Kidney134.6
Leukemia_chronicMyelogenousK-56273.35
Leukemia_promyelocytic-HL-6039.8
Leukemialymphoblastic(MOLT-4)80.35
Liver76.35
Lung929
Lymphnode67.3
Lymphoma_burkitts(Daudi)38.95
Lymphoma_burkitts(Raji)319.3
MedullaOblongata38.15
OccipitalLobe54.8
OlfactoryBulb63.05
Ovary24.9
Pancreas265
PancreaticIslet428.5
ParietalLobe31.95
Pituitary99.2
Placenta377.25
Pons26.5
PrefrontalCortex145
Prostate947.3
Salivarygland51.7
SkeletalMuscle17.25
Skin20.75
SmoothMuscle150
Spinalcord123.05
SubthalamicNucleus36.25
SuperiorCervicalGanglion44.9
TemporalLobe29.45
Testis73.6
TestisGermCell33.8
TestisIntersitial23.6
TestisLeydigCell26.45
TestisSeminiferousTubule22.55
Thalamus57.1
Thymus104.3
Thyroid418.35
Tongue21.2
Tonsil74.65
Trachea81.8
TrigeminalGanglion19.5
Uterus168.5
UterusCorpus17.3
WholeBlood667.05
Wholebrain142.5
colon636.7
pineal_day273.74
pineal_night234.62
retina146.75
small_intestine220.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_667_PI416573500
  • 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
Amygdala3.15 ± 0.86
Basal Forebrain2.3 ± 0.41
Basal Part of Pons2.97 ± 0.59
Cerebellar Cortex3.11 ± 0.53
Cerebellar Nuclei3.03 ± 0.78
Claustrum3.32 ± 0.8
Epithalamus2.65 ± 0.46
Frontal Lobe2.67 ± 0.75
Globus Pallidus3.46 ± 0.91
Hypothalamus2.5 ± 0.77
Insula2.28 ± 0.64
Limbic Lobe2.77 ± 0.71
Mesencephalon2.97 ± 0.77
Myelencephalon2.74 ± 0.72
Occipital Lobe2.83 ± 0.8
Parietal Lobe2.58 ± 0.8
Pontine Tegmentum2.59 ± 0.89
Striatum2.53 ± 0.77
Subthalamus2.61 ± 0.41
Temporal Lobe2.65 ± 0.77
Thalamus2.57 ± 0.6
White Matter2.14 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pacsin2CBCerebellum33.41
69.5
Pacsin2CTXCerebral cortex45.71
45.33
Pacsin2HIPHippocampal region33.89
60.58
Pacsin2HPFHippocampal formation38
53.95
Pacsin2HYHypothalamus25.92
25.29
Pacsin2LSXLateral septal complex30.4
23.71
Pacsin2MBMidbrain34.72
42.13
Pacsin2MYMedulla45.6
74.82
Pacsin2OLFOlfactory bulb78.59
90.51
Pacsin2PPons40.25
61.41
Pacsin2PALPallidum28.62
32.76
Pacsin2RHPRetrohippocampal region44.92
46.48
Pacsin2sAMYStriatum-like amygdalar nuclei28.98
25.41
Pacsin2STRStriatum27.15
23.05
Pacsin2STRdStriatum dorsal region18.25
14.21
Pacsin2STRvStriatum ventral region57.51
50.7
Pacsin2THThalamus56.68
66.47
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009226 18 449 466 AGDELTKMEDEDEQGWCK 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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