AutismKB 2.0

Annotation Detail for SERPINA3


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Basic Information Top
Gene Symbol:SERPINA3 ( AACT,ACT,GIG25,MGC88254 )
Gene Full Name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
Band: 14q32.13
Quick LinksEntrez ID:12; OMIM: 107280; Uniprot ID:AACT_HUMAN; ENSEMBL ID: ENSG00000196136; HGNC ID: 16
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 
fetus109 / 564012193
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult568 / 1939121292
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult85 / 193912143
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor11 / 94178116
cervical tumor12 / 34366349
chondrosarcoma9 / 82823108
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor17 / 119369142
germ cell tumor24 / 26384590
glioma49 / 106883458
head and neck tumor4 / 13630229
kidney tumor16 / 68959232
leukemia19 / 95842198
liver tumor36 / 96359373
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia37 / 97250380
normal887 / 3360307263
ovarian tumor1 / 7668213
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor33 / 124949264
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor39 / 90257432
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor3 / 26384511
glioma6 / 10688356
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal82 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
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 gland2 / 3319760
ascites5 / 40015124
bladder32 / 297571075
blood19 / 123478153
bone4 / 7165555
bone marrow1 / 4880120
brain169 / 1100989153
cervix12 / 48171249
connective tissue49 / 149255328
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye50 / 211054236
heart5 / 8962655
intestine7 / 23447229
kidney22 / 211777103
larynx8 / 24145331
liver474 / 2077432281
lung33 / 33697497
lymph0 / 442700 
lymph node0 / 916100 
mammary gland98 / 153271639
mouth0 / 670520 
muscle0 / 1077150 
nerve2 / 15768126
ovary2 / 10205119
pancreas315 / 2148121466
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta45 / 280825160
prostate43 / 189345227
salivary gland1 / 2015549
skin33 / 210574156
spleen0 / 539520 
stomach17 / 96619175
testis11 / 33044233
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus53 / 232878227
vascular0 / 517800 
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain12 / 110098910
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye11 / 21105452
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx1 / 2414541
liver29 / 207743139
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland23 / 153271150
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate6 / 18934531
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach6 / 9661962
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202376_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.65
Adipocyte56.6
AdrenalCortex7.7
Adrenalgland13.85
Amygdala12.65
Appendix7.85
AtrioventricularNode47.65
BDCA4+_DentriticCells4.2
Bonemarrow5.4
BronchialEpithelialCells4.1
CD105+_Endothelial3.9
CD14+_Monocytes3.95
CD19+_BCells(neg._sel.)3.95
CD33+_Myeloid4.85
CD34+5.2
CD4+_Tcells4.1
CD56+_NKCells4.5
CD71+_EarlyErythroid3.55
CD8+_Tcells3.6
CardiacMyocytes7.05
Caudatenucleus29.55
Cerebellum9.45
CerebellumPeduncles7.55
CiliaryGanglion32.25
CingulateCortex6.5
Colorectaladenocarcinoma4.05
DorsalRootGanglion57.1
FetalThyroid39.25
Fetalbrain32.15
Fetalliver249.65
Fetallung276.9
GlobusPallidus5.2
Heart7.8
Hypothalamus92.65
Kidney5.25
Leukemia_chronicMyelogenousK-5624.85
Leukemia_promyelocytic-HL-604.6
Leukemialymphoblastic(MOLT-4)3.3
Liver3497.15
Lung42.15
Lymphnode9.75
Lymphoma_burkitts(Daudi)6.8
Lymphoma_burkitts(Raji)5.8
MedullaOblongata5.6
OccipitalLobe3.35
OlfactoryBulb77.1
Ovary116.35
Pancreas1844
PancreaticIslet4745.7
ParietalLobe6.35
Pituitary64.5
Placenta38.25
Pons8.05
PrefrontalCortex34.75
Prostate33.65
Salivarygland89.7
SkeletalMuscle42.4
Skin13.2
SmoothMuscle9.55
Spinalcord127.6
SubthalamicNucleus61.5
SuperiorCervicalGanglion10.95
TemporalLobe27.7
Testis8.55
TestisGermCell5.25
TestisIntersitial4.2
TestisLeydigCell5.15
TestisSeminiferousTubule23.55
Thalamus50.7
Thymus4.95
Thyroid5.65
Tongue5.85
Tonsil4.4
Trachea711.5
TrigeminalGanglion50.7
Uterus6.15
UterusCorpus13.95
WholeBlood5.05
Wholebrain4.35
colon4.2
pineal_day96.94
pineal_night45.18
retina661.925
small_intestine3.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P124727
  • 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
Amygdala1.96 ± 0.93
Basal Forebrain1.84 ± 0.45
Basal Part of Pons1.89 ± 0.82
Cerebellar Cortex1.39 ± 0.52
Cerebellar Nuclei2.13 ± 0.83
Claustrum2.4 ± 0.79
Epithalamus3.77 ± 0.73
Frontal Lobe1.6 ± 0.78
Globus Pallidus4.27 ± 0.53
Hypothalamus2.33 ± 1.32
Insula1.46 ± 0.49
Limbic Lobe1.62 ± 0.78
Mesencephalon2.11 ± 0.91
Myelencephalon1.84 ± 0.8
Occipital Lobe2.07 ± 1.03
Parietal Lobe1.79 ± 0.88
Pontine Tegmentum1.84 ± 0.75
Striatum2.08 ± 0.72
Subthalamus1.91 ± 0.11
Temporal Lobe1.71 ± 0.84
Thalamus1.87 ± 0.77
White Matter2.74 ± 1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Serpina3nCBCerebellum0.66
1.2
Serpina3nCTXCerebral cortex0.7
0.76
Serpina3nHIPHippocampal region1
0.98
Serpina3nHPFHippocampal formation0.76
0.7
Serpina3nHYHypothalamus0.87
0.62
Serpina3nLSXLateral septal complex0.12
0.06
Serpina3nMBMidbrain0.4
0.36
Serpina3nMYMedulla0.87
0.52
Serpina3nOLFOlfactory bulb0.46
0.42
Serpina3nPPons0.59
0.5
Serpina3nPALPallidum0.4
0.37
Serpina3nRHPRetrohippocampal region0.34
0.22
Serpina3nsAMYStriatum-like amygdalar nuclei0.3
0.24
Serpina3nSTRStriatum0.88
0.92
Serpina3nSTRdStriatum dorsal region1.22
1.35
Serpina3nSTRvStriatum ventral region0.3
0.28
Serpina3nTHThalamus0.46
0.57
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AACT_HUMAN_125 20 125 144 TLNQSSDELQLSMGNAMFVK PRIDE
AACT_HUMAN_145 8 145 152 EQLSLLDR PRIDE
AACT_HUMAN_160 18 160 177 LYGSEAFATDFQDSAAAK PRIDE
AACT_HUMAN_231 5 231 235 FYLSK PRIDE
AACT_HUMAN_301 15 301 315 DSLEFREIGELYLPK PRIDE
AACT_HUMAN_301 6 301 306 DSLEFR PRIDE
AACT_HUMAN_307 9 307 315 EIGELYLPK PRIDE
AACT_HUMAN_321 20 321 340 DYNLNDILLQLGIEEAFTSK PRIDE
AACT_HUMAN_341 10 341 350 ADLSGITGAR PRIDE
AACT_HUMAN_351 10 351 360 NLAVSQVVHK PRIDE
AACT_HUMAN_361 19 361 379 AVLDVFEEGTEASAATAVK PRIDE
AACT_HUMAN_380 11 380 390 ITLLSALVETR PRIDE
AACT_HUMAN_42 21 42 62 GTHVDLGLASANVDFAFSLYK PRIDE
AACT_HUMAN_63 5 63 67 QLVLK PRIDE
PAp00024144 16 215 230 AKWEMPFDPQDTHQSR 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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