AutismKB 2.0

Annotation Detail for SERPINA1


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Basic Information Top
Gene Symbol:SERPINA1 ( A1A,A1AT,AAT,MGC23330,MGC9222,PI,PI1,PRO2275,alpha1AT )
Gene Full Name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
Band: 14q32.13
Quick LinksEntrez ID:5265; OMIM: 107400; Uniprot ID:A1AT_HUMAN; ENSEMBL ID: ENSG00000197249; HGNC ID: 8941
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 body1 / 7076114
blastocyst2 / 6231932
fetus628 / 5640121113
neonate7 / 31097225
infant0 / 236200 
juvenile5 / 5555689
adult878 / 1939121452
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) tumor45 / 94178477
cervical tumor2 / 3436658
chondrosarcoma11 / 82823132
colorectal tumor29 / 114246253
esophageal tumor0 / 172900 
gastrointestinal tumor22 / 119369184
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia26 / 95842271
liver tumor218 / 963592262
lung tumor14 / 103127135
lymphoma4 / 7175555
non-neoplasia44 / 97250452
normal1753 / 3360307521
ovarian tumor18 / 76682234
pancreatic tumor28 / 104616267
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor47 / 90257520
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood41 / 123478332
bone4 / 7165555
bone marrow8 / 48801163
brain9 / 11009898
cervix2 / 4817141
connective tissue54 / 149255361
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye10 / 21105447
heart13 / 89626145
intestine47 / 234472200
kidney40 / 211777188
larynx0 / 241450 
liver1192 / 2077435737
lung123 / 336974365
lymph3 / 4427067
lymph node9 / 9161098
mammary gland46 / 153271300
mouth1 / 6705214
muscle17 / 107715157
nerve0 / 157680 
ovary18 / 102051176
pancreas61 / 214812283
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta18 / 28082564
prostate5 / 18934526
salivary gland0 / 201550 
skin3 / 21057414
spleen41 / 53952759
stomach27 / 96619279
testis4 / 33044212
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus52 / 232878223
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211429_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts510.65
Adipocyte9.8
AdrenalCortex17.7
Adrenalgland12.45
Amygdala12.95
Appendix20.2
AtrioventricularNode15.3
BDCA4+_DentriticCells180.3
Bonemarrow407.7
BronchialEpithelialCells11.7
CD105+_Endothelial61.9
CD14+_Monocytes2790.55
CD19+_BCells(neg._sel.)10.05
CD33+_Myeloid1942.9
CD34+12.35
CD4+_Tcells13.05
CD56+_NKCells609.05
CD71+_EarlyErythroid21.3
CD8+_Tcells8.35
CardiacMyocytes30.55
Caudatenucleus15.7
Cerebellum15.6
CerebellumPeduncles16.15
CiliaryGanglion14.8
CingulateCortex16.6
Colorectaladenocarcinoma962.1
DorsalRootGanglion15.95
FetalThyroid82.5
Fetalbrain16.55
Fetalliver16053.9
Fetallung5701
GlobusPallidus13.65
Heart42.1
Hypothalamus21.5
Kidney632.55
Leukemia_chronicMyelogenousK-56211
Leukemia_promyelocytic-HL-6012.55
Leukemialymphoblastic(MOLT-4)9.6
Liver19030.8
Lung2300.4
Lymphnode18.7
Lymphoma_burkitts(Daudi)13.6
Lymphoma_burkitts(Raji)29.75
MedullaOblongata11.5
OccipitalLobe11.1
OlfactoryBulb22.15
Ovary11.2
Pancreas394.05
PancreaticIslet3048.5
ParietalLobe18.85
Pituitary22.95
Placenta33.45
Pons18.8
PrefrontalCortex16.6
Prostate22.2
Salivarygland14.8
SkeletalMuscle29.45
Skin16
SmoothMuscle12.95
Spinalcord26.85
SubthalamicNucleus17.95
SuperiorCervicalGanglion36.95
TemporalLobe17.05
Testis14
TestisGermCell13
TestisIntersitial8.95
TestisLeydigCell18.45
TestisSeminiferousTubule9.65
Thalamus15.7
Thymus15.8
Thyroid22.85
Tongue12.75
Tonsil19.4
Trachea80.55
TrigeminalGanglion27
Uterus14.35
UterusCorpus14.45
WholeBlood6015
Wholebrain11
colon270.55
pineal_day17.68
pineal_night18.38
retina91.775
small_intestine587.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P218111
  • 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
Amygdala3.53 ± 0.83
Basal Forebrain3.72 ± 1.16
Basal Part of Pons4.3 ± 0.22
Cerebellar Cortex3.11 ± 0.51
Cerebellar Nuclei4.35 ± 0.36
Claustrum3.51 ± 0.54
Epithalamus3.98 ± 0.51
Frontal Lobe3.36 ± 0.72
Globus Pallidus4.82 ± 0.25
Hypothalamus3.53 ± 0.79
Insula3.14 ± 0.57
Limbic Lobe3.37 ± 0.74
Mesencephalon3.37 ± 0.68
Myelencephalon3.47 ± 0.76
Occipital Lobe3.42 ± 0.75
Parietal Lobe3.34 ± 0.73
Pontine Tegmentum3.29 ± 0.64
Striatum3.83 ± 0.54
Subthalamus3.65 ± 0.16
Temporal Lobe3.43 ± 0.7
Thalamus3.35 ± 0.49
White Matter3.86 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Serpina1eCBCerebellum2.41
3.16
Serpina1eCTXCerebral cortex0.93
0.95
Serpina1eHIPHippocampal region0.68
0.64
Serpina1eHPFHippocampal formation0.67
0.7
Serpina1eHYHypothalamus0.21
0.27
Serpina1eLSXLateral septal complex0.25
0.15
Serpina1eMBMidbrain1
1.34
Serpina1eMYMedulla0.99
1.22
Serpina1eOLFOlfactory bulb0.92
0.68
Serpina1ePPons0.6
0.89
Serpina1ePALPallidum0.16
0.16
Serpina1eRHPRetrohippocampal region0.6
0.7
Serpina1esAMYStriatum-like amygdalar nuclei0.44
0.48
Serpina1eSTRStriatum0.42
0.43
Serpina1eSTRdStriatum dorsal region0.23
0.24
Serpina1eSTRvStriatum ventral region0.34
0.38
Serpina1eTHThalamus0.31
0.35
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
A1AT_HUMAN_126 24 126 149 TLNQPDSQLQLTTGNGLFLSEGLK PRIDE
A1AT_HUMAN_161 18 161 178 LYHSEAFTVNFGDTEEAK PRIDE
A1AT_HUMAN_161 19 161 179 LYHSEAFTVNFGDTEEAKK PRIDE
A1AT_HUMAN_180 8 180 187 QINDYVEK PRIDE
A1AT_HUMAN_226 16 226 241 DTEEEDFHVDQVTTVK PRIDE
A1AT_HUMAN_259 9 259 267 LSSWVLLMK PRIDE
A1AT_HUMAN_268 16 268 283 YLGNATAIFFLPDEGK PRIDE
A1AT_HUMAN_284 15 284 298 LQHLENELTHDIITK PRIDE
A1AT_HUMAN_299 8 299 306 FLENEDRR PRIDE
A1AT_HUMAN_307 8 307 314 SASLHLPK PRIDE
A1AT_HUMAN_315 10 315 324 LSITGTYDLK PRIDE
A1AT_HUMAN_325 10 325 334 SVLGQLGITK PRIDE
A1AT_HUMAN_335 18 335 352 VFSNGADLSGVTEEAPLK PRIDE
A1AT_HUMAN_360 8 360 367 AVLTIDEK PRIDE
A1AT_HUMAN_390 15 390 404 FNKPFVFLMIEQNTK PRIDE
A1AT_HUMAN_50 14 50 63 ITPNLAEFAFSLYR PRIDE
PAp00000101 15 35 49 TDTSHHDQDHPTFNK 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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