AutismKB 2.0

Annotation Detail for SAMM50


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Basic Information Top
Gene Symbol:SAMM50 ( FLJ35825,FLJ42905,FLJ99036,OMP85,SAM50,TOB55,TRG-3,YNL026W )
Gene Full Name: sorting and assembly machinery component 50 homolog (S. cerevisiae)
Band: 22q13.31
Quick LinksEntrez ID:25813; OMIM: 612058; Uniprot ID:SAM50_HUMAN; ENSEMBL ID: ENSG00000100347; HGNC ID: 24276
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 body6 / 7076184
blastocyst4 / 6231964
fetus53 / 56401293
neonate2 / 3109764
infant3 / 23620127
juvenile10 / 55556179
adult174 / 193912189
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) tumor10 / 94178106
cervical tumor11 / 34366320
chondrosarcoma6 / 8282372
colorectal tumor6 / 11424652
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor26 / 26384598
glioma16 / 106883149
head and neck tumor6 / 13630244
kidney tumor5 / 6895972
leukemia27 / 95842281
liver tumor8 / 9635983
lung tumor15 / 103127145
lymphoma12 / 71755167
non-neoplasia4 / 9725041
normal308 / 336030791
ovarian tumor9 / 76682117
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS35 / 125680278
prostate cancer13 / 102680126
retinoblastoma13 / 46356280
skin tumor40 / 124949320
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland4 / 33197120
ascites8 / 40015199
bladder0 / 297570 
blood29 / 123478234
bone3 / 7165541
bone marrow3 / 4880161
brain121 / 1100989109
cervix11 / 48171228
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue19 / 21572288
esophagus4 / 20209197
eye25 / 211054118
heart7 / 8962678
intestine23 / 23447298
kidney16 / 21177775
larynx2 / 2414582
liver15 / 20774372
lung32 / 33697494
lymph12 / 44270271
lymph node3 / 9161032
mammary gland12 / 15327178
mouth4 / 6705259
muscle15 / 107715139
nerve0 / 157680 
ovary20 / 102051195
pancreas11 / 21481251
parathyroid3 / 20539146
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta39 / 280825138
prostate17 / 18934589
salivary gland0 / 201550 
skin41 / 210574194
spleen2 / 5395237
stomach5 / 9661951
testis45 / 330442136
thymus4 / 8113149
thyroid1 / 4747321
tonsil6 / 16999352
trachea0 / 524130 
umbilical cord1 / 1368073
uterus15 / 23287864
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201570_at
Cell line Expression level Expression bar
721_B_lymphoblasts446.6
Adipocyte177.75
AdrenalCortex55.05
Adrenalgland110.85
Amygdala93.4
Appendix74.9
AtrioventricularNode59.2
BDCA4+_DentriticCells176.8
Bonemarrow94.6
BronchialEpithelialCells158.6
CD105+_Endothelial388.2
CD14+_Monocytes213.15
CD19+_BCells(neg._sel.)246.2
CD33+_Myeloid149.5
CD34+215.9
CD4+_Tcells138.2
CD56+_NKCells155.25
CD71+_EarlyErythroid359.3
CD8+_Tcells118.1
CardiacMyocytes118.7
Caudatenucleus78.45
Cerebellum68.7
CerebellumPeduncles80.55
CiliaryGanglion43.3
CingulateCortex83.65
Colorectaladenocarcinoma141.35
DorsalRootGanglion43.9
FetalThyroid60.55
Fetalbrain85.05
Fetalliver89.3
Fetallung68.95
GlobusPallidus34.5
Heart141.7
Hypothalamus138.3
Kidney107.15
Leukemia_chronicMyelogenousK-562102.3
Leukemia_promyelocytic-HL-60235.3
Leukemialymphoblastic(MOLT-4)107.55
Liver130.35
Lung72.2
Lymphnode59.15
Lymphoma_burkitts(Daudi)355.85
Lymphoma_burkitts(Raji)154.35
MedullaOblongata65.15
OccipitalLobe79.55
OlfactoryBulb60.8
Ovary46.3
Pancreas53.9
PancreaticIslet84.75
ParietalLobe86.25
Pituitary98.2
Placenta58.55
Pons71
PrefrontalCortex105.5
Prostate85.75
Salivarygland69.7
SkeletalMuscle97.75
Skin50
SmoothMuscle135.55
Spinalcord99.55
SubthalamicNucleus67.25
SuperiorCervicalGanglion67.2
TemporalLobe64.4
Testis118.9
TestisGermCell74.6
TestisIntersitial74.25
TestisLeydigCell85.6
TestisSeminiferousTubule74.4
Thalamus101.15
Thymus109.95
Thyroid111.3
Tongue88.5
Tonsil82.9
Trachea68.2
TrigeminalGanglion51.75
Uterus76.9
UterusCorpus62.25
WholeBlood64.6
Wholebrain102.1
colon123.7
pineal_day99.56
pineal_night133.42
retina167.475
small_intestine163.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12333_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
Amygdala6.19 ± 0.65
Basal Forebrain6.68 ± 0.28
Basal Part of Pons7.2 ± 0.49
Cerebellar Cortex7.02 ± 0.49
Cerebellar Nuclei7 ± 0.52
Claustrum5.78 ± 0.62
Epithalamus6.94 ± 0.43
Frontal Lobe7.08 ± 0.49
Globus Pallidus6.51 ± 0.29
Hypothalamus7.19 ± 0.51
Insula7.04 ± 0.39
Limbic Lobe6.59 ± 0.62
Mesencephalon6.67 ± 0.48
Myelencephalon6.79 ± 0.59
Occipital Lobe6.4 ± 0.51
Parietal Lobe6.79 ± 0.56
Pontine Tegmentum6.8 ± 0.57
Striatum6.41 ± 0.49
Subthalamus6.98 ± 1.19
Temporal Lobe6.99 ± 0.48
Thalamus6.89 ± 0.48
White Matter6.57 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Samm50CBCerebellum5.2
5.19
Samm50CTXCerebral cortex2.08
1.88
Samm50HIPHippocampal region5.61
5.38
Samm50HPFHippocampal formation4.76
4.27
Samm50HYHypothalamus0.96
0.64
Samm50LSXLateral septal complex0.1
0.07
Samm50MBMidbrain1.47
1.37
Samm50MYMedulla4.27
4.42
Samm50OLFOlfactory bulb3.02
2.41
Samm50PPons2.66
2.97
Samm50PALPallidum0.87
0.61
Samm50RHPRetrohippocampal region3.28
2.67
Samm50sAMYStriatum-like amygdalar nuclei0.56
0.53
Samm50STRStriatum0.27
0.25
Samm50STRdStriatum dorsal region0.19
0.21
Samm50STRvStriatum ventral region0.45
0.32
Samm50THThalamus2.56
2.03
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001556 13 60 72 DDIIICEIGDVFK 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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