AutismKB 2.0

Annotation Detail for SAMSN1


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Basic Information Top
Gene Symbol:SAMSN1 ( HACS1,NASH1,SASH2,SH3D6B )
Gene Full Name: SAM domain, SH3 domain and nuclear localization signals 1
Band: 21q11.2
Quick LinksEntrez ID:64092; OMIM: 607978; Uniprot ID:SAMN1_HUMAN; ENSEMBL ID: ENSG00000155307; HGNC ID: 10528
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 
fetus10 / 56401217
neonate9 / 31097289
infant0 / 236200 
juvenile1 / 5555617
adult22 / 193912111
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor2 / 17290115
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia11 / 95842114
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia0 / 972500 
normal59 / 336030717
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood17 / 123478137
bone0 / 716550 
bone marrow10 / 48801204
brain1 / 11009890 
cervix0 / 481710 
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue0 / 2157220 
esophagus2 / 2020998
eye2 / 2110549
heart4 / 8962644
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung3 / 3369748
lymph1 / 4427022
lymph node5 / 9161054
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland3 / 20155148
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis1 / 3304423
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220330_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts545.35
Adipocyte10.25
AdrenalCortex18.1
Adrenalgland9.95
Amygdala10.45
Appendix16.15
AtrioventricularNode16.65
BDCA4+_DentriticCells37.9
Bonemarrow15.95
BronchialEpithelialCells9.4
CD105+_Endothelial10.85
CD14+_Monocytes255.8
CD19+_BCells(neg._sel.)58.45
CD33+_Myeloid344.75
CD34+109.2
CD4+_Tcells42.3
CD56+_NKCells92.95
CD71+_EarlyErythroid10.8
CD8+_Tcells79.5
CardiacMyocytes27.5
Caudatenucleus10.55
Cerebellum8.6
CerebellumPeduncles14.4
CiliaryGanglion14.2
CingulateCortex11.8
Colorectaladenocarcinoma10.65
DorsalRootGanglion14.65
FetalThyroid11.8
Fetalbrain9.25
Fetalliver9.95
Fetallung28.25
GlobusPallidus9.8
Heart23.8
Hypothalamus10.95
Kidney10.6
Leukemia_chronicMyelogenousK-5621553.55
Leukemia_promyelocytic-HL-609.6
Leukemialymphoblastic(MOLT-4)8.55
Liver19.75
Lung11.55
Lymphnode216.95
Lymphoma_burkitts(Daudi)14.75
Lymphoma_burkitts(Raji)21.05
MedullaOblongata9.65
OccipitalLobe9.45
OlfactoryBulb8.05
Ovary9.85
Pancreas10.05
PancreaticIslet12.45
ParietalLobe12.95
Pituitary12.35
Placenta9.45
Pons11
PrefrontalCortex11.05
Prostate12.2
Salivarygland9.6
SkeletalMuscle23.45
Skin15.95
SmoothMuscle11.8
Spinalcord14.15
SubthalamicNucleus12.35
SuperiorCervicalGanglion23.2
TemporalLobe10.85
Testis8.75
TestisGermCell7.9
TestisIntersitial9.55
TestisLeydigCell11.75
TestisSeminiferousTubule9.05
Thalamus11.65
Thymus7.65
Thyroid12.6
Tongue15.1
Tonsil12.35
Trachea9.1
TrigeminalGanglion18.6
Uterus8.25
UterusCorpus13.2
WholeBlood247.7
Wholebrain7.25
colon14.6
pineal_day12.24
pineal_night12.46
retina12.825
small_intestine14.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9030_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
Amygdala3.89 ± 0.86
Basal Forebrain3.5 ± 0.38
Basal Part of Pons4.17 ± 0.37
Cerebellar Cortex2.88 ± 0.5
Cerebellar Nuclei4.85 ± 0.63
Claustrum3.74 ± 0.73
Epithalamus4.09 ± 0.68
Frontal Lobe3.51 ± 0.89
Globus Pallidus5.4 ± 0.4
Hypothalamus3.42 ± 1.04
Insula3.57 ± 0.95
Limbic Lobe3.41 ± 0.8
Mesencephalon3.47 ± 0.87
Myelencephalon3.63 ± 0.85
Occipital Lobe2.89 ± 0.74
Parietal Lobe3.46 ± 0.83
Pontine Tegmentum3.42 ± 0.81
Striatum4.01 ± 0.57
Subthalamus4.34 ± 0.4
Temporal Lobe3.71 ± 0.78
Thalamus3.47 ± 0.72
White Matter5.18 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Samsn1CBCerebellum61.13
47.73
Samsn1CTXCerebral cortex96.31
72.94
Samsn1HIPHippocampal region96.07
84.71
Samsn1HPFHippocampal formation97.07
84.62
Samsn1HYHypothalamus96.78
81.86
Samsn1LSXLateral septal complex79.74
47.46
Samsn1MBMidbrain79.83
61.29
Samsn1MYMedulla75.81
71.29
Samsn1OLFOlfactory bulb100
78.65
Samsn1PPons86
76.95
Samsn1PALPallidum73.23
58.22
Samsn1RHPRetrohippocampal region97.56
83.34
Samsn1sAMYStriatum-like amygdalar nuclei100
70.92
Samsn1STRStriatum82.39
54.66
Samsn1STRdStriatum dorsal region69.89
47.87
Samsn1STRvStriatum ventral region100
69.78
Samsn1THThalamus47.18
33.77
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00063711 18 88 105 ALSEEKDEEDGENAHPYR Peptide Atlas
SAMN1_HUMAN_87 18 87 104 ALSEEKDEEDGENAHPYR 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


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