AutismKB 2.0

Annotation Detail for SACS


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Basic Information Top
Gene Symbol:SACS ( ARSACS,DKFZp686B15167,DNAJC29 )
Gene Full Name: spastic ataxia of Charlevoix-Saguenay (sacsin)
Band: 13q12.12
Quick LinksEntrez ID:26278; OMIM: 604490; Uniprot ID:SACS_HUMAN; ENSEMBL ID: ENSG00000151835; HGNC ID: 10519
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 body5 / 7076170
blastocyst7 / 62319112
fetus42 / 56401274
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult29 / 193912114
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia11 / 97250113
normal135 / 336030740
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor2 / 9025722
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 
blood2 / 12347816
bone2 / 7165527
bone marrow1 / 4880120
brain70 / 110098963
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine5 / 23447221
kidney7 / 21177733
larynx0 / 241450 
liver5 / 20774324
lung6 / 33697417
lymph1 / 4427022
lymph node3 / 9161032
mammary gland2 / 15327113
mouth0 / 670520 
muscle5 / 10771546
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus18 / 23287877
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213262_at
Cell line Expression level Expression bar
721_B_lymphoblasts175.55
Adipocyte9.4
AdrenalCortex13.65
Adrenalgland7.95
Amygdala207
Appendix13
AtrioventricularNode10.55
BDCA4+_DentriticCells12.45
Bonemarrow9.7
BronchialEpithelialCells15.4
CD105+_Endothelial21.95
CD14+_Monocytes10.2
CD19+_BCells(neg._sel.)11.6
CD33+_Myeloid15.65
CD34+30.95
CD4+_Tcells87.15
CD56+_NKCells21.65
CD71+_EarlyErythroid9.1
CD8+_Tcells44.75
CardiacMyocytes24.55
Caudatenucleus54.1
Cerebellum7.75
CerebellumPeduncles12.25
CiliaryGanglion12.35
CingulateCortex28.95
Colorectaladenocarcinoma36.5
DorsalRootGanglion9.85
FetalThyroid9.65
Fetalbrain159.9
Fetalliver8.1
Fetallung6.75
GlobusPallidus18.1
Heart15.9
Hypothalamus54.35
Kidney8.25
Leukemia_chronicMyelogenousK-5629.2
Leukemia_promyelocytic-HL-6010.05
Leukemialymphoblastic(MOLT-4)29.4
Liver14.25
Lung9.7
Lymphnode8.7
Lymphoma_burkitts(Daudi)12.1
Lymphoma_burkitts(Raji)16.15
MedullaOblongata94.4
OccipitalLobe43.75
OlfactoryBulb7.5
Ovary6.95
Pancreas8.05
PancreaticIslet10.25
ParietalLobe34.25
Pituitary12.8
Placenta8.4
Pons13.2
PrefrontalCortex135.9
Prostate10.95
Salivarygland19.8
SkeletalMuscle17.6
Skin8.95
SmoothMuscle32.6
Spinalcord15.4
SubthalamicNucleus26.6
SuperiorCervicalGanglion17.6
TemporalLobe23.85
Testis7.8
TestisGermCell7.9
TestisIntersitial8.7
TestisLeydigCell10.1
TestisSeminiferousTubule9.45
Thalamus78.45
Thymus6.8
Thyroid12.15
Tongue11.85
Tonsil9.45
Trachea7.9
TrigeminalGanglion23.25
Uterus24.95
UterusCorpus12.25
WholeBlood11.15
Wholebrain25.1
colon9.55
pineal_day111.76
pineal_night69.42
retina18.275
small_intestine9.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P308073
  • 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
Amygdala6.05 ± 0.46
Basal Forebrain5.83 ± 0.26
Basal Part of Pons6.56 ± 0.32
Cerebellar Cortex5.52 ± 0.47
Cerebellar Nuclei6.59 ± 0.59
Claustrum6.97 ± 0.78
Epithalamus5.57 ± 0.4
Frontal Lobe5.93 ± 0.58
Globus Pallidus5.83 ± 0.27
Hypothalamus5.68 ± 0.64
Insula5.87 ± 0.54
Limbic Lobe6.17 ± 0.59
Mesencephalon5.95 ± 0.51
Myelencephalon6.09 ± 0.56
Occipital Lobe6.58 ± 0.43
Parietal Lobe6.16 ± 0.45
Pontine Tegmentum5.92 ± 0.77
Striatum6.89 ± 0.42
Subthalamus5.73 ± 0.53
Temporal Lobe6.01 ± 0.5
Thalamus6.22 ± 0.71
White Matter5.08 ± 1.05
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SacsCBCerebellum22.88
44.74
SacsCTXCerebral cortex29.48
26.21
SacsHIPHippocampal region23.47
28.79
SacsHPFHippocampal formation20.27
21.76
SacsHYHypothalamus11.63
11.93
SacsLSXLateral septal complex0.14
0
SacsMBMidbrain21.39
26.41
SacsMYMedulla50.06
71.35
SacsOLFOlfactory bulb19.44
17.44
SacsPPons36.77
52.28
SacsPALPallidum16.7
19.39
SacsRHPRetrohippocampal region14.72
11.75
SacssAMYStriatum-like amygdalar nuclei3.67
3.25
SacsSTRStriatum11.84
8.88
SacsSTRdStriatum dorsal region14.26
10.61
SacsSTRvStriatum ventral region7.89
6.25
SacsTHThalamus35.09
38.28
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SACS_HUMAN_604 11 604 614 QNLHLMLNIIR PRIDE
SACS_HUMAN_693 15 693 707 LINPENMGFEQSGQR 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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