AutismKB 2.0

Annotation Detail for SERPINB1


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Basic Information Top
Gene Symbol:SERPINB1 ( EI,ELANH2,LEI,M/NEI,MNEI,PI2 )
Gene Full Name: serpin peptidase inhibitor, clade B (ovalbumin), member 1
Band: 6p25.2
Quick LinksEntrez ID:1992; OMIM: 130135; Uniprot ID:ILEU_HUMAN; ENSEMBL ID: ENSG00000021355; HGNC ID: 3311
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 
blastocyst3 / 6231948
fetus11 / 56401219
neonate3 / 3109796
infant0 / 236200 
juvenile1 / 5555617
adult194 / 1939121100
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma6 / 17475343
breast (mammary gland) tumor4 / 9417842
cervical tumor7 / 34366203
chondrosarcoma3 / 8282336
colorectal tumor29 / 114246253
esophageal tumor2 / 17290115
gastrointestinal tumor17 / 119369142
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor18 / 136302132
kidney tumor2 / 6895929
leukemia45 / 95842469
liver tumor6 / 9635962
lung tumor8 / 10312777
lymphoma7 / 7175597
non-neoplasia4 / 9725041
normal248 / 336030773
ovarian tumor6 / 7668278
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites11 / 40015274
bladder9 / 29757302
blood46 / 123478372
bone5 / 7165569
bone marrow22 / 48801450
brain37 / 110098933
cervix7 / 48171145
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus4 / 20209197
eye4 / 21105418
heart4 / 8962644
intestine48 / 234472204
kidney16 / 21177775
larynx2 / 2414582
liver14 / 20774367
lung53 / 336974157
lymph0 / 442700 
lymph node12 / 91610130
mammary gland7 / 15327145
mouth15 / 67052223
muscle3 / 10771527
nerve1 / 1576863
ovary7 / 10205168
pancreas24 / 214812111
parathyroid1 / 2053948
pharynx12 / 41328290
pituitary gland1 / 1658560
placenta21 / 28082574
prostate6 / 18934531
salivary gland5 / 20155248
skin11 / 21057452
spleen7 / 53952129
stomach26 / 96619269
testis5 / 33044215
thymus10 / 81131123
thyroid7 / 47473147
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus14 / 23287860
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213572_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.9
Adipocyte6.5
AdrenalCortex9.1
Adrenalgland14.8
Amygdala6.1
Appendix7.05
AtrioventricularNode7.2
BDCA4+_DentriticCells137.45
Bonemarrow317.1
BronchialEpithelialCells17.95
CD105+_Endothelial9.6
CD14+_Monocytes524.85
CD19+_BCells(neg._sel.)109.45
CD33+_Myeloid443.45
CD34+417.15
CD4+_Tcells39.55
CD56+_NKCells163.05
CD71+_EarlyErythroid6
CD8+_Tcells50.05
CardiacMyocytes8.8
Caudatenucleus5.15
Cerebellum5
CerebellumPeduncles7.45
CiliaryGanglion5.3
CingulateCortex6.5
Colorectaladenocarcinoma9.75
DorsalRootGanglion6.8
FetalThyroid11.15
Fetalbrain5.9
Fetalliver5.7
Fetallung27.35
GlobusPallidus4.75
Heart9.15
Hypothalamus6.6
Kidney5.45
Leukemia_chronicMyelogenousK-5626.1
Leukemia_promyelocytic-HL-605.4
Leukemialymphoblastic(MOLT-4)4.5
Liver8.95
Lung56.55
Lymphnode22.5
Lymphoma_burkitts(Daudi)8
Lymphoma_burkitts(Raji)9.05
MedullaOblongata5.45
OccipitalLobe5.3
OlfactoryBulb5.1
Ovary4.85
Pancreas72.5
PancreaticIslet140.4
ParietalLobe6.9
Pituitary30
Placenta10.55
Pons6.1
PrefrontalCortex7.45
Prostate7.65
Salivarygland10.75
SkeletalMuscle9.55
Skin7.75
SmoothMuscle6.95
Spinalcord6.8
SubthalamicNucleus5.8
SuperiorCervicalGanglion7.9
TemporalLobe5.75
Testis5.6
TestisGermCell4.95
TestisIntersitial5.35
TestisLeydigCell6.45
TestisSeminiferousTubule5.65
Thalamus6.6
Thymus24.4
Thyroid24.05
Tongue138
Tonsil34.15
Trachea37.2
TrigeminalGanglion7.15
Uterus6.9
UterusCorpus5.8
WholeBlood313.55
Wholebrain4.7
colon138.6
pineal_day11.22
pineal_night12.3
retina11.825
small_intestine204.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1976_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
Amygdala4.26 ± 0.67
Basal Forebrain5.24 ± 0.32
Basal Part of Pons4.23 ± 0.53
Cerebellar Cortex4.97 ± 0.29
Cerebellar Nuclei5.21 ± 0.4
Claustrum4.32 ± 0.81
Epithalamus5.93 ± 0.31
Frontal Lobe4.74 ± 0.68
Globus Pallidus6.15 ± 0.45
Hypothalamus5.4 ± 0.8
Insula4.64 ± 0.29
Limbic Lobe4.49 ± 0.59
Mesencephalon4.98 ± 0.6
Myelencephalon4.84 ± 0.62
Occipital Lobe4.62 ± 0.67
Parietal Lobe4.54 ± 0.7
Pontine Tegmentum4.86 ± 0.68
Striatum5.18 ± 0.66
Subthalamus4.37 ± 0.11
Temporal Lobe4.61 ± 0.56
Thalamus5.06 ± 0.49
White Matter6.31 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Serpinb1aCBCerebellum30.47
35.34
Serpinb1aCTXCerebral cortex13.99
9.53
Serpinb1aHIPHippocampal region14.45
12.84
Serpinb1aHPFHippocampal formation16.51
13.74
Serpinb1aHYHypothalamus34.05
25.64
Serpinb1aLSXLateral septal complex35.38
25.54
Serpinb1aMBMidbrain53.75
43.3
Serpinb1aMYMedulla79.13
76.84
Serpinb1aOLFOlfactory bulb36.69
27.64
Serpinb1aPPons83.17
73.32
Serpinb1aPALPallidum46.31
38.02
Serpinb1aRHPRetrohippocampal region20.61
15.3
Serpinb1asAMYStriatum-like amygdalar nuclei29.71
24.47
Serpinb1aSTRStriatum28.46
20.53
Serpinb1aSTRdStriatum dorsal region25.56
18.68
Serpinb1aSTRvStriatum ventral region33.21
20.52
Serpinb1aTHThalamus42.55
33.59
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ILEU_HUMAN_1 10 1 10 MEQLSSANTR PRIDE
ILEU_HUMAN_110 19 110 128 TYGADLASVDFQHASEDAR PRIDE
ILEU_HUMAN_110 20 110 129 TYGADLASVDFQHASEDARK PRIDE
ILEU_HUMAN_137 21 137 157 GQTEGKIPELLASGMVDNMTK PRIDE
ILEU_HUMAN_143 15 143 157 IPELLASGMVDNMTK PRIDE
ILEU_HUMAN_158 10 158 167 LVLVNAIYFK PRIDE
ILEU_HUMAN_203 10 203 212 FAYGYIEDLK PRIDE
ILEU_HUMAN_244 10 244 253 KIEEQLTLEK PRIDE
ILEU_HUMAN_244 31 244 274 KIEEQLTLEKLHEWTKPENLDFIEVNVSLPR PRIDE
ILEU_HUMAN_245 9 245 253 IEEQLTLEK PRIDE
ILEU_HUMAN_254 21 254 274 LHEWTKPENLDFIEVNVSLPR PRIDE
ILEU_HUMAN_275 15 275 289 FKLEESYTLNSDLAR PRIDE
ILEU_HUMAN_290 11 290 300 LGVQDLFNSSK PRIDE
ILEU_HUMAN_363 12 363 374 HNSSGSILFLGR PRIDE
ILEU_HUMAN_56 13 56 68 TFHFNTVEEVHSR PRIDE
ILEU_HUMAN_69 11 69 79 FQSLNADINKR PRIDE
ILEU_HUMAN_96 14 96 109 TYNFLPEFLVSTQK PRIDE
PAp00002330 12 204 215 FAYGYIEDLKCR 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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