AutismKB 2.0

Annotation Detail for SAMD9


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Basic Information Top
Gene Symbol:SAMD9 ( C7orf5,DRIF1,FLJ20073,KIAA2004,NFTC,OEF1,OEF2 )
Gene Full Name: sterile alpha motif domain containing 9
Band: 7q21.2
Quick LinksEntrez ID:54809; OMIM: 610456; Uniprot ID:SAMD9_HUMAN; ENSEMBL ID: ENSG00000205413; HGNC ID: 1348
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult34 / 193912117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor13 / 13630295
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal39 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood1 / 1234788
bone0 / 716550 
bone marrow1 / 4880120
brain1 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye1 / 2110544
heart0 / 896260 
intestine5 / 23447221
kidney2 / 2117779
larynx0 / 241450 
liver4 / 20774319
lung8 / 33697423
lymph0 / 442700 
lymph node6 / 9161065
mammary gland2 / 15327113
mouth9 / 67052134
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta3 / 28082510
prostate4 / 18934521
salivary gland2 / 2015599
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus16 / 23287868
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219691_at
Cell line Expression level Expression bar
721_B_lymphoblasts76.9
Adipocyte22.65
AdrenalCortex29.35
Adrenalgland20.3
Amygdala22
Appendix32.55
AtrioventricularNode28.85
BDCA4+_DentriticCells20.8
Bonemarrow28.25
BronchialEpithelialCells19.8
CD105+_Endothelial22.3
CD14+_Monocytes55.2
CD19+_BCells(neg._sel.)46.05
CD33+_Myeloid31.4
CD34+36.3
CD4+_Tcells106.9
CD56+_NKCells67.35
CD71+_EarlyErythroid100.9
CD8+_Tcells53.35
CardiacMyocytes43.1
Caudatenucleus18.9
Cerebellum20.8
CerebellumPeduncles29.45
CiliaryGanglion22
CingulateCortex29.5
Colorectaladenocarcinoma21.8
DorsalRootGanglion23.85
FetalThyroid24.25
Fetalbrain20.7
Fetalliver42.6
Fetallung12.85
GlobusPallidus18.1
Heart45.4
Hypothalamus23.2
Kidney22.1
Leukemia_chronicMyelogenousK-56218.65
Leukemia_promyelocytic-HL-6018.6
Leukemialymphoblastic(MOLT-4)24.4
Liver38.45
Lung19.55
Lymphnode20.15
Lymphoma_burkitts(Daudi)76.15
Lymphoma_burkitts(Raji)32.15
MedullaOblongata25.7
OccipitalLobe21.15
OlfactoryBulb15.1
Ovary16.65
Pancreas17.65
PancreaticIslet26.2
ParietalLobe27.3
Pituitary26.15
Placenta20.85
Pons23.25
PrefrontalCortex26.6
Prostate23.75
Salivarygland25.75
SkeletalMuscle38.05
Skin24.7
SmoothMuscle28.3
Spinalcord23.3
SubthalamicNucleus21.5
SuperiorCervicalGanglion42.35
TemporalLobe23
Testis20.65
TestisGermCell14.4
TestisIntersitial17.25
TestisLeydigCell29.7
TestisSeminiferousTubule19.75
Thalamus25.3
Thymus19.1
Thyroid31.05
Tongue37.25
Tonsil51.4
Trachea24.25
TrigeminalGanglion29.6
Uterus14.45
UterusCorpus21.9
WholeBlood97.65
Wholebrain19.45
colon24.05
pineal_day26.52
pineal_night24.14
retina28.625
small_intestine18.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P219072
  • 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
Amygdala2.91 ± 1
Basal Forebrain2.47 ± 0.49
Basal Part of Pons2.43 ± 0.55
Cerebellar Cortex1.97 ± 0.52
Cerebellar Nuclei3.08 ± 0.46
Claustrum3.29 ± 0.89
Epithalamus2.83 ± 0.8
Frontal Lobe2.39 ± 0.71
Globus Pallidus2.97 ± 0.6
Hypothalamus2.72 ± 0.8
Insula2.43 ± 0.62
Limbic Lobe2.48 ± 0.82
Mesencephalon2.51 ± 0.76
Myelencephalon2.53 ± 0.76
Occipital Lobe2.12 ± 0.61
Parietal Lobe2.18 ± 0.88
Pontine Tegmentum2.4 ± 0.76
Striatum2.48 ± 0.8
Subthalamus2.82 ± 0.3
Temporal Lobe2.54 ± 0.74
Thalamus2.31 ± 0.63
White Matter2.73 ± 0.64
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096084 24 597 620 HQDEISSQCISALSLEEINGTILK 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