AutismKB 2.0

Annotation Detail for S100A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:S100A1 ( S100,S100-alpha,S100A )
Gene Full Name: S100 calcium binding protein A1
Band: 1q21.3
Quick LinksEntrez ID:6271; OMIM: 176940; Uniprot ID:S10A1_HUMAN; ENSEMBL ID: ENSG00000160678; HGNC ID: 10486
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 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult102 / 193912152
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) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal100 / 336030729
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor28 / 124949224
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 
bone3 / 7165541
bone marrow0 / 488010 
brain31 / 110098928
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye20 / 21105494
heart28 / 89626312
intestine0 / 2344720 
kidney2 / 2117779
larynx1 / 2414541
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland13 / 15327184
mouth0 / 670520 
muscle29 / 107715269
nerve0 / 157680 
ovary5 / 10205148
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate1 / 1893455
salivary gland0 / 201550 
skin28 / 210574132
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205334_at
Cell line Expression level Expression bar
721_B_lymphoblasts15.1
Adipocyte12.15
AdrenalCortex14
Adrenalgland11.35
Amygdala91.8
Appendix13.8
AtrioventricularNode10.95
BDCA4+_DentriticCells11.25
Bonemarrow13.05
BronchialEpithelialCells13.2
CD105+_Endothelial12.25
CD14+_Monocytes12.95
CD19+_BCells(neg._sel.)13.3
CD33+_Myeloid15.55
CD34+14.9
CD4+_Tcells14.1
CD56+_NKCells15.5
CD71+_EarlyErythroid11.75
CD8+_Tcells12.7
CardiacMyocytes16.45
Caudatenucleus136.15
Cerebellum21.25
CerebellumPeduncles60.6
CiliaryGanglion10.45
CingulateCortex77.2
Colorectaladenocarcinoma13.35
DorsalRootGanglion23
FetalThyroid28.3
Fetalbrain12
Fetalliver12.15
Fetallung9.6
GlobusPallidus48.9
Heart846.05
Hypothalamus92.15
Kidney11.25
Leukemia_chronicMyelogenousK-56212.9
Leukemia_promyelocytic-HL-6011.15
Leukemialymphoblastic(MOLT-4)10.55
Liver17.9
Lung13.8
Lymphnode11.7
Lymphoma_burkitts(Daudi)16.3
Lymphoma_burkitts(Raji)18.55
MedullaOblongata74.55
OccipitalLobe137
OlfactoryBulb62.3
Ovary8.85
Pancreas10.25
PancreaticIslet13.35
ParietalLobe94.8
Pituitary16.4
Placenta13.05
Pons59
PrefrontalCortex170.8
Prostate14.85
Salivarygland30.3
SkeletalMuscle224.8
Skin11.35
SmoothMuscle13.35
Spinalcord241.65
SubthalamicNucleus103.9
SuperiorCervicalGanglion16.2
TemporalLobe62.7
Testis11.1
TestisGermCell9
TestisIntersitial9.9
TestisLeydigCell13.15
TestisSeminiferousTubule10.55
Thalamus116.55
Thymus9.1
Thyroid75.7
Tongue59.45
Tonsil13
Trachea46.25
TrigeminalGanglion13.85
Uterus10.2
UterusCorpus10.2
WholeBlood13.1
Wholebrain54.2
colon14.2
pineal_day22.9
pineal_night17.88
retina111.6
small_intestine14
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14606_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
Amygdala7.81 ± 0.46
Basal Forebrain7.65 ± 0.34
Basal Part of Pons7.61 ± 0.63
Cerebellar Cortex6.65 ± 0.52
Cerebellar Nuclei7.85 ± 1.01
Claustrum7.44 ± 0.43
Epithalamus7.28 ± 0.62
Frontal Lobe7.36 ± 0.67
Globus Pallidus9.28 ± 0.7
Hypothalamus7.47 ± 0.51
Insula7.13 ± 0.79
Limbic Lobe7.06 ± 0.83
Mesencephalon7.9 ± 0.75
Myelencephalon7.58 ± 0.85
Occipital Lobe7.69 ± 0.6
Parietal Lobe7.63 ± 0.68
Pontine Tegmentum7.74 ± 0.62
Striatum8.52 ± 0.7
Subthalamus7.71 ± 0.32
Temporal Lobe7.42 ± 0.55
Thalamus8.21 ± 0.44
White Matter9.4 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
S100a1CBCerebellum10.61
12.84
S100a1CTXCerebral cortex7.09
6.06
S100a1HIPHippocampal region6.44
9.48
S100a1HPFHippocampal formation7.29
8.16
S100a1HYHypothalamus3.07
2.62
S100a1LSXLateral septal complex1.52
1.1
S100a1MBMidbrain5.53
5.53
S100a1MYMedulla9.76
9.89
S100a1OLFOlfactory bulb9.77
9.67
S100a1PPons7.74
7.33
S100a1PALPallidum3.91
3.11
S100a1RHPRetrohippocampal region8.63
6.65
S100a1sAMYStriatum-like amygdalar nuclei2.46
1.92
S100a1STRStriatum3.85
2.93
S100a1STRdStriatum dorsal region4.32
3.47
S100a1STRvStriatum ventral region2.98
1.8
S100a1THThalamus9.51
10.52
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01136526 21 2 22 GSELETAMETLINVFHAHSGK Peptide Atlas
S10A1_HUMAN_2 21 2 22 GSELETAMETLINVFHAHSGK PRIDE
S10A1_HUMAN_2 25 2 26 GSELETAMETLINVFHAHSGKEGDK PRIDE
S10A1_HUMAN_33 18 33 50 ELKELLQTELSGFLDAQK PRIDE
S10A1_HUMAN_33 25 33 57 ELKELLQTELSGFLDAQKDVDAVDK PRIDE
S10A1_HUMAN_36 15 36 50 ELLQTELSGFLDAQK PRIDE
S10A1_HUMAN_36 22 36 57 ELLQTELSGFLDAQKDVDAVDK 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