AutismKB 2.0

Annotation Detail for SASH1


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Basic Information Top
Gene Symbol:SASH1 ( KIAA0790,RP3-323M4.1,SH3D6A,dJ323M4,dJ323M4.1 )
Gene Full Name: SAM and SH3 domain containing 1
Band: 6q24.3-q25.1
Quick LinksEntrez ID:23328; OMIM: 607955; Uniprot ID:SASH1_HUMAN; ENSEMBL ID: ENSG00000111961; HGNC ID: 19182
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
blastocyst8 / 62319128
fetus44 / 56401278
neonate5 / 31097160
infant0 / 236200 
juvenile7 / 55556125
adult110 / 193912156
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 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor22 / 26384583
glioma7 / 10688365
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor9 / 9635993
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia13 / 97250133
normal302 / 336030789
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor9 / 12494972
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone5 / 7165569
bone marrow0 / 488010 
brain68 / 110098961
cervix0 / 481710 
connective tissue12 / 14925580
ear4 / 16212246
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye13 / 21105461
heart6 / 8962666
intestine6 / 23447225
kidney14 / 21177766
larynx1 / 2414541
liver14 / 20774367
lung11 / 33697432
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth2 / 6705229
muscle11 / 107715102
nerve1 / 1576863
ovary2 / 10205119
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate8 / 18934542
salivary gland0 / 201550 
skin97 / 210574460
spleen1 / 5395218
stomach4 / 9661941
testis10 / 33044230
thymus3 / 8113136
thyroid3 / 4747363
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord2 / 13680146
uterus9 / 23287838
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213236_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.65
Adipocyte6.75
AdrenalCortex2.9
Adrenalgland2.45
Amygdala13.7
Appendix2.85
AtrioventricularNode2.15
BDCA4+_DentriticCells3.3
Bonemarrow2.8
BronchialEpithelialCells2.85
CD105+_Endothelial2.9
CD14+_Monocytes3.5
CD19+_BCells(neg._sel.)3.1
CD33+_Myeloid3.8
CD34+3.7
CD4+_Tcells3.2
CD56+_NKCells3.5
CD71+_EarlyErythroid2.7
CD8+_Tcells2.85
CardiacMyocytes3.6
Caudatenucleus2.65
Cerebellum2.35
CerebellumPeduncles3.3
CiliaryGanglion1.95
CingulateCortex14.85
Colorectaladenocarcinoma2.9
DorsalRootGanglion2.2
FetalThyroid5.25
Fetalbrain2.9
Fetalliver2.45
Fetallung2.55
GlobusPallidus2.4
Heart3.6
Hypothalamus4.45
Kidney2.3
Leukemia_chronicMyelogenousK-5622.65
Leukemia_promyelocytic-HL-602.55
Leukemialymphoblastic(MOLT-4)2.35
Liver3.75
Lung29.6
Lymphnode2.5
Lymphoma_burkitts(Daudi)3.65
Lymphoma_burkitts(Raji)4
MedullaOblongata8.85
OccipitalLobe9.55
OlfactoryBulb16.05
Ovary1.9
Pancreas2.3
PancreaticIslet3.05
ParietalLobe11.15
Pituitary3.4
Placenta5.15
Pons2.85
PrefrontalCortex41.15
Prostate8.2
Salivarygland2.3
SkeletalMuscle3.2
Skin2.15
SmoothMuscle4
Spinalcord3.6
SubthalamicNucleus6.15
SuperiorCervicalGanglion3.2
TemporalLobe2.65
Testis2.5
TestisGermCell4.3
TestisIntersitial2.45
TestisLeydigCell2.85
TestisSeminiferousTubule2.5
Thalamus7.2
Thymus2.35
Thyroid11.6
Tongue2.8
Tonsil2.8
Trachea2.45
TrigeminalGanglion2.8
Uterus3.1
UterusCorpus2.55
WholeBlood3.2
Wholebrain10.8
colon2.95
pineal_day3.66
pineal_night3.56
retina21.225
small_intestine2.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P46689
  • 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
Amygdala6.71 ± 0.54
Basal Forebrain7.28 ± 0.27
Basal Part of Pons6.78 ± 0.52
Cerebellar Cortex6.56 ± 0.25
Cerebellar Nuclei6.93 ± 0.39
Claustrum6.31 ± 0.48
Epithalamus7.03 ± 0.6
Frontal Lobe7.05 ± 0.53
Globus Pallidus8.15 ± 0.3
Hypothalamus7.13 ± 0.3
Insula7 ± 0.41
Limbic Lobe6.87 ± 0.52
Mesencephalon7.21 ± 0.67
Myelencephalon7.18 ± 0.52
Occipital Lobe7.19 ± 0.59
Parietal Lobe7.03 ± 0.49
Pontine Tegmentum7.11 ± 0.43
Striatum7.66 ± 0.4
Subthalamus6.96 ± 0.53
Temporal Lobe7.05 ± 0.4
Thalamus7.48 ± 0.51
White Matter8.11 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sash1CBCerebellum14.29
20.41
Sash1CTXCerebral cortex3.76
3
Sash1HIPHippocampal region7.77
13.23
Sash1HPFHippocampal formation7.64
9.85
Sash1HYHypothalamus2.16
1.83
Sash1LSXLateral septal complex0.73
2.22
Sash1MBMidbrain3.52
3.58
Sash1MYMedulla5.18
5.27
Sash1OLFOlfactory bulb13.97
16.29
Sash1PPons2.1
2.57
Sash1PALPallidum5.5
5.22
Sash1RHPRetrohippocampal region7.06
5.16
Sash1sAMYStriatum-like amygdalar nuclei6.84
5.35
Sash1STRStriatum2.87
2.56
Sash1STRdStriatum dorsal region2.45
2.44
Sash1STRvStriatum ventral region2.26
1.37
Sash1THThalamus22.68
21.02
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00080263 16 561 576 VHTDFTPSPYDTDSLK Peptide Atlas
SASH1_HUMAN_81 5 81 85 MEELR 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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