AutismKB 2.0

Annotation Detail for SAC3D1


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Basic Information Top
Gene Symbol:SAC3D1 ( HSU79266,SHD1 )
Gene Full Name: SAC3 domain containing 1
Band: 11q13.1
Quick LinksEntrez ID:29901; OMIM: NA; Uniprot ID:F8WC89_HUMAN; ENSEMBL ID: ENSG00000168061; HGNC ID: 30179
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 
blastocyst2 / 6231932
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult30 / 193912115
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor10 / 26384537
glioma6 / 10688356
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal48 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor2 / 12494916
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone3 / 7165541
bone marrow0 / 488010 
brain15 / 110098913
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye4 / 21105418
heart2 / 8962622
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver8 / 20774338
lung10 / 33697429
lymph0 / 442700 
lymph node2 / 9161021
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary1 / 1020519
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta8 / 28082528
prostate3 / 18934515
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach1 / 9661910
testis11 / 33044233
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205449_at
Cell line Expression level Expression bar
721_B_lymphoblasts115.2
Adipocyte5.7
AdrenalCortex6.05
Adrenalgland4.9
Amygdala5.95
Appendix5.8
AtrioventricularNode4.45
BDCA4+_DentriticCells16.1
Bonemarrow5.85
BronchialEpithelialCells6.15
CD105+_Endothelial68
CD14+_Monocytes40.55
CD19+_BCells(neg._sel.)6.1
CD33+_Myeloid23.45
CD34+57.6
CD4+_Tcells6
CD56+_NKCells7.05
CD71+_EarlyErythroid98.7
CD8+_Tcells5.4
CardiacMyocytes7.7
Caudatenucleus4.8
Cerebellum4.6
CerebellumPeduncles6.5
CiliaryGanglion4.05
CingulateCortex5.8
Colorectaladenocarcinoma40.55
DorsalRootGanglion4.35
FetalThyroid5.5
Fetalbrain5.55
Fetalliver5
Fetallung4.5
GlobusPallidus4.25
Heart9.45
Hypothalamus6.2
Kidney4.6
Leukemia_chronicMyelogenousK-5625.2
Leukemia_promyelocytic-HL-6011.05
Leukemialymphoblastic(MOLT-4)69.8
Liver11.65
Lung11.2
Lymphnode4.1
Lymphoma_burkitts(Daudi)16.15
Lymphoma_burkitts(Raji)15.05
MedullaOblongata5.1
OccipitalLobe4.65
OlfactoryBulb3.75
Ovary3.75
Pancreas4.55
PancreaticIslet5.55
ParietalLobe6.1
Pituitary6
Placenta5.75
Pons5.15
PrefrontalCortex6.95
Prostate6.65
Salivarygland4.55
SkeletalMuscle6.8
Skin4.35
SmoothMuscle6.15
Spinalcord6.05
SubthalamicNucleus5
SuperiorCervicalGanglion6.4
TemporalLobe5.2
Testis246.1
TestisGermCell53.15
TestisIntersitial25.3
TestisLeydigCell11.65
TestisSeminiferousTubule27
Thalamus5.65
Thymus19.05
Thyroid7
Tongue5.7
Tonsil5.5
Trachea3.95
TrigeminalGanglion5.65
Uterus4.35
UterusCorpus5.05
WholeBlood6.15
Wholebrain7.5
colon5.35
pineal_day6.54
pineal_night6
retina6.6
small_intestine5.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13439_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
Amygdala2.03 ± 1.09
Basal Forebrain1.61 ± 0.26
Basal Part of Pons1.45 ± 0.72
Cerebellar Cortex2.03 ± 0.75
Cerebellar Nuclei2.07 ± 0.76
Claustrum2.44 ± 0.76
Epithalamus1.53 ± 0.87
Frontal Lobe1.65 ± 0.8
Globus Pallidus2.15 ± 0.65
Hypothalamus1.83 ± 0.68
Insula1.35 ± 0.48
Limbic Lobe1.64 ± 0.72
Mesencephalon1.86 ± 0.78
Myelencephalon1.79 ± 0.7
Occipital Lobe1.66 ± 0.73
Parietal Lobe1.75 ± 0.89
Pontine Tegmentum1.67 ± 0.69
Striatum1.71 ± 0.8
Subthalamus1.79 ± 0.76
Temporal Lobe1.62 ± 0.71
Thalamus1.66 ± 0.71
White Matter2.37 ± 0.58
Mouse Brain ISH
Peptide Top

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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