AutismKB 2.0

Annotation Detail for PADI1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PADI1 ( HPAD10,PAD1,PDI,PDI1 )
Gene Full Name: peptidyl arginine deiminase, type I
Band: 1p36.13
Quick LinksEntrez ID:29943; OMIM: 607934; Uniprot ID:PADI1_HUMAN; ENSEMBL ID: ENSG00000142623; HGNC ID: 18367
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 
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult9 / 19391214
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 tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor21 / 136302154
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal19 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
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 
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye2 / 2110549
heart0 / 896260 
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth22 / 67052328
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach2 / 9661920
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220962_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts22.15
Adipocyte25
AdrenalCortex29.95
Adrenalgland27.7
Amygdala25.4
Appendix26.7
AtrioventricularNode21.15
BDCA4+_DentriticCells19.05
Bonemarrow26.45
BronchialEpithelialCells24.15
CD105+_Endothelial23.2
CD14+_Monocytes15.05
CD19+_BCells(neg._sel.)25.75
CD33+_Myeloid31.05
CD34+30.75
CD4+_Tcells26.6
CD56+_NKCells28.8
CD71+_EarlyErythroid24.1
CD8+_Tcells23.75
CardiacMyocytes34.45
Caudatenucleus22.75
Cerebellum22.6
CerebellumPeduncles29.65
CiliaryGanglion21.25
CingulateCortex33.6
Colorectaladenocarcinoma25.2
DorsalRootGanglion20.85
FetalThyroid26.05
Fetalbrain24.65
Fetalliver22.2
Fetallung21.1
GlobusPallidus23.1
Heart32.75
Hypothalamus30.2
Kidney22.65
Leukemia_chronicMyelogenousK-56222.8
Leukemia_promyelocytic-HL-6022.3
Leukemialymphoblastic(MOLT-4)20.35
Liver35.3
Lung27.05
Lymphnode21.65
Lymphoma_burkitts(Daudi)31.85
Lymphoma_burkitts(Raji)34.5
MedullaOblongata25.5
OccipitalLobe22.75
OlfactoryBulb19.95
Ovary17.3
Pancreas20.2
PancreaticIslet26.2
ParietalLobe28.9
Pituitary32.95
Placenta25.55
Pons25.45
PrefrontalCortex31.5
Prostate29.15
Salivarygland21.7
SkeletalMuscle34.55
Skin20.55
SmoothMuscle27.1
Spinalcord31.05
SubthalamicNucleus23.25
SuperiorCervicalGanglion32.3
TemporalLobe25.2
Testis21.85
TestisGermCell20.9
TestisIntersitial21.5
TestisLeydigCell24.75
TestisSeminiferousTubule21.7
Thalamus28.7
Thymus19.65
Thyroid30.45
Tongue29.45
Tonsil25.3
Trachea21.55
TrigeminalGanglion29
Uterus19.9
UterusCorpus24.65
WholeBlood27.55
Wholebrain20.25
colon25.1
pineal_day32.38
pineal_night29.96
retina30.45
small_intestine24
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9276_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
Amygdala2.17 ± 0.99
Basal Forebrain1.81 ± 0.31
Basal Part of Pons1.35 ± 0.36
Cerebellar Cortex1.58 ± 0.68
Cerebellar Nuclei2.03 ± 0.77
Claustrum2.64 ± 0.88
Epithalamus1.5 ± 0.74
Frontal Lobe1.58 ± 0.58
Globus Pallidus2.38 ± 0.29
Hypothalamus1.77 ± 0.64
Insula1.67 ± 0.55
Limbic Lobe1.76 ± 0.59
Mesencephalon1.91 ± 0.66
Myelencephalon1.79 ± 0.62
Occipital Lobe1.82 ± 0.6
Parietal Lobe1.79 ± 0.73
Pontine Tegmentum1.83 ± 0.72
Striatum2.01 ± 0.6
Subthalamus1.9 ± 0.61
Temporal Lobe1.65 ± 0.59
Thalamus1.75 ± 0.58
White Matter2.33 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Padi1CBCerebellum4.3
4.45
Padi1CTXCerebral cortex6.8
4.76
Padi1HIPHippocampal region7.67
6.51
Padi1HPFHippocampal formation7.72
6.02
Padi1HYHypothalamus0.33
0.25
Padi1LSXLateral septal complex0.03
0
Padi1MBMidbrain1.5
1.99
Padi1MYMedulla4.42
4.98
Padi1OLFOlfactory bulb13.71
10.93
Padi1PPons2.82
2.86
Padi1PALPallidum1.54
1.26
Padi1RHPRetrohippocampal region7.86
5.37
Padi1sAMYStriatum-like amygdalar nuclei4.23
3.33
Padi1STRStriatum1.46
1.01
Padi1STRdStriatum dorsal region1.05
0.7
Padi1STRvStriatum ventral region1.97
1.24
Padi1THThalamus1.61
1.49
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PADI1_HUMAN_217 9 217 225 GGNSLSDYK PRIDE

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