AutismKB 2.0

Annotation Detail for PACSIN1


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Basic Information Top
Gene Symbol:PACSIN1 ( KIAA1379,SDPI )
Gene Full Name: protein kinase C and casein kinase substrate in neurons 1
Band: 6p21.3
Quick LinksEntrez ID:29993; OMIM: 606512; Uniprot ID:PACN1_HUMAN; ENSEMBL ID: ENSG00000124507; HGNC ID: 8570
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 body0 / 707610 
blastocyst2 / 6231932
fetus6 / 56401210
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult43 / 193912122
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma6 / 10688356
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia5 / 9725051
normal77 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma4 / 4635686
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain55 / 110098949
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye17 / 21105480
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph1 / 4427022
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214403_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts32.75
Adipocyte26.4
AdrenalCortex36.1
Adrenalgland22.05
Amygdala27.7
Appendix27.95
AtrioventricularNode26.2
BDCA4+_DentriticCells24.8
Bonemarrow26.5
BronchialEpithelialCells21.9
CD105+_Endothelial34.55
CD14+_Monocytes28.25
CD19+_BCells(neg._sel.)28.25
CD33+_Myeloid36.3
CD34+33.9
CD4+_Tcells30.8
CD56+_NKCells31.15
CD71+_EarlyErythroid31.35
CD8+_Tcells26.35
CardiacMyocytes36.05
Caudatenucleus23.85
Cerebellum21.5
CerebellumPeduncles56.25
CiliaryGanglion26.75
CingulateCortex28.85
Colorectaladenocarcinoma27
DorsalRootGanglion23.2
FetalThyroid25.85
Fetalbrain26.65
Fetalliver23.25
Fetallung21.5
GlobusPallidus19.9
Heart31.25
Hypothalamus28.85
Kidney20.8
Leukemia_chronicMyelogenousK-56224.15
Leukemia_promyelocytic-HL-6023.8
Leukemialymphoblastic(MOLT-4)21.45
Liver34.2
Lung29
Lymphnode22.6
Lymphoma_burkitts(Daudi)33.45
Lymphoma_burkitts(Raji)50.65
MedullaOblongata24.9
OccipitalLobe23.9
OlfactoryBulb22
Ovary19
Pancreas21.7
PancreaticIslet28.45
ParietalLobe27.9
Pituitary31.1
Placenta27.05
Pons25.25
PrefrontalCortex33.1
Prostate30.95
Salivarygland21.35
SkeletalMuscle31.3
Skin32.45
SmoothMuscle30.25
Spinalcord28.35
SubthalamicNucleus32.65
SuperiorCervicalGanglion38.9
TemporalLobe24.15
Testis22.9
TestisGermCell21.85
TestisIntersitial24.4
TestisLeydigCell27.4
TestisSeminiferousTubule24.3
Thalamus26.85
Thymus17
Thyroid33.85
Tongue27.35
Tonsil26.1
Trachea22.35
TrigeminalGanglion30.25
Uterus21.55
UterusCorpus23.25
WholeBlood23.9
Wholebrain18.05
colon26.85
pineal_day69
pineal_night93.46
retina32.55
small_intestine25.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P149266
  • 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
Amygdala11.95 ± 0.68
Basal Forebrain11.36 ± 0.39
Basal Part of Pons12.6 ± 0.32
Cerebellar Cortex11.56 ± 0.28
Cerebellar Nuclei11.41 ± 0.8
Claustrum11.91 ± 0.65
Epithalamus10.29 ± 0.81
Frontal Lobe11.95 ± 0.47
Globus Pallidus10.06 ± 0.72
Hypothalamus11.41 ± 0.56
Insula12.14 ± 0.25
Limbic Lobe11.9 ± 0.54
Mesencephalon11.31 ± 0.5
Myelencephalon11.57 ± 0.83
Occipital Lobe11.05 ± 0.8
Parietal Lobe11.81 ± 0.56
Pontine Tegmentum11.5 ± 0.47
Striatum11.11 ± 0.88
Subthalamus11.86 ± 0.24
Temporal Lobe12.07 ± 0.46
Thalamus11.46 ± 0.43
White Matter8.77 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pacsin1CBCerebellum96.97
100
Pacsin1CTXCerebral cortex100
100
Pacsin1HIPHippocampal region100
100
Pacsin1HPFHippocampal formation100
100
Pacsin1HYHypothalamus100
100
Pacsin1LSXLateral septal complex100
100
Pacsin1MBMidbrain100
100
Pacsin1MYMedulla87.09
100
Pacsin1OLFOlfactory bulb100
100
Pacsin1PPons96.22
100
Pacsin1PALPallidum100
100
Pacsin1RHPRetrohippocampal region100
100
Pacsin1sAMYStriatum-like amygdalar nuclei100
100
Pacsin1STRStriatum100
100
Pacsin1STRdStriatum dorsal region100
100
Pacsin1STRvStriatum ventral region100
100
Pacsin1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00071280 8 158 165 KAYHLACK 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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