AutismKB 2.0

Annotation Detail for SERPIND1


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Basic Information Top
Gene Symbol:SERPIND1 ( D22S673,HC2,HCF2,HCII,HLS2,LS2 )
Gene Full Name: serpin peptidase inhibitor, clade D (heparin cofactor), member 1
Band: 22q11.21
Quick LinksEntrez ID:3053; OMIM: 142360; Uniprot ID:HEP2_HUMAN; ENSEMBL ID: ENSG00000099937; HGNC ID: 4838
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 
fetus62 / 564012109
neonate0 / 310970 
infant0 / 236200 
juvenile14 / 55556251
adult33 / 193912117
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 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor35 / 96359363
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal130 / 336030738
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
brain18 / 110098916
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver110 / 207743529
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205576_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.25
Adipocyte4.4
AdrenalCortex4.9
Adrenalgland3.95
Amygdala4.65
Appendix4.9
AtrioventricularNode3.65
BDCA4+_DentriticCells4.6
Bonemarrow4.65
BronchialEpithelialCells4.35
CD105+_Endothelial4.55
CD14+_Monocytes4.85
CD19+_BCells(neg._sel.)4.65
CD33+_Myeloid5.7
CD34+5.75
CD4+_Tcells4.7
CD56+_NKCells5.25
CD71+_EarlyErythroid4.25
CD8+_Tcells4.25
CardiacMyocytes6.1
Caudatenucleus4.1
Cerebellum3.65
CerebellumPeduncles5.25
CiliaryGanglion4.35
CingulateCortex4.6
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.65
FetalThyroid4.7
Fetalbrain4.45
Fetalliver1273.3
Fetallung4.15
GlobusPallidus3.4
Heart6.1
Hypothalamus4.9
Kidney3.8
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604
Leukemialymphoblastic(MOLT-4)3.6
Liver4884.4
Lung4.95
Lymphnode3.85
Lymphoma_burkitts(Daudi)5.9
Lymphoma_burkitts(Raji)6.45
MedullaOblongata4.05
OccipitalLobe4.05
OlfactoryBulb3.5
Ovary3.15
Pancreas3.75
PancreaticIslet4.9
ParietalLobe4.85
Pituitary5.2
Placenta4.65
Pons4.4
PrefrontalCortex5.45
Prostate5.2
Salivarygland3.7
SkeletalMuscle5.7
Skin3.75
SmoothMuscle5.2
Spinalcord5.3
SubthalamicNucleus4.2
SuperiorCervicalGanglion6.65
TemporalLobe4.25
Testis3.85
TestisGermCell3.6
TestisIntersitial3.85
TestisLeydigCell4.5
TestisSeminiferousTubule3.9
Thalamus4.65
Thymus3.45
Thyroid5.65
Tongue4.6
Tonsil4.45
Trachea3.75
TrigeminalGanglion7.35
Uterus3.7
UterusCorpus4.1
WholeBlood4.95
Wholebrain3.7
colon4.5
pineal_day5.54
pineal_night5.52
retina5.425
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P40306
  • 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
Amygdala2.24 ± 1.15
Basal Forebrain1.79 ± 0.27
Basal Part of Pons1.37 ± 0.41
Cerebellar Cortex1.52 ± 0.63
Cerebellar Nuclei2.1 ± 0.83
Claustrum2.74 ± 0.97
Epithalamus1.44 ± 0.78
Frontal Lobe1.6 ± 0.68
Globus Pallidus2.27 ± 0.32
Hypothalamus1.93 ± 0.66
Insula1.5 ± 0.41
Limbic Lobe1.72 ± 0.67
Mesencephalon1.91 ± 0.73
Myelencephalon1.77 ± 0.72
Occipital Lobe1.61 ± 0.35
Parietal Lobe1.77 ± 0.93
Pontine Tegmentum1.79 ± 0.72
Striatum2.11 ± 0.87
Subthalamus1.98 ± 0.72
Temporal Lobe1.61 ± 0.82
Thalamus1.71 ± 0.65
White Matter2.23 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Serpind1CBCerebellum3.84
4.55
Serpind1CTXCerebral cortex1.95
2.24
Serpind1HIPHippocampal region1.47
1.61
Serpind1HPFHippocampal formation2.09
2.34
Serpind1HYHypothalamus1.09
1.39
Serpind1LSXLateral septal complex0.79
0.82
Serpind1MBMidbrain3.5
4.26
Serpind1MYMedulla7.94
7.69
Serpind1OLFOlfactory bulb3.07
2.68
Serpind1PPons7.78
8.15
Serpind1PALPallidum2.21
2
Serpind1RHPRetrohippocampal region2.71
2.39
Serpind1sAMYStriatum-like amygdalar nuclei7.27
5.93
Serpind1STRStriatum2.36
1.73
Serpind1STRdStriatum dorsal region1.79
1.19
Serpind1STRvStriatum ventral region2.28
1.51
Serpind1THThalamus1.82
1.43
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HEP2_HUMAN_303 12 303 314 FPVEMTHNHNFR PRIDE
PAp00024619 8 185 192 DFVNASSK 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