AutismKB 2.0

Annotation Detail for SYNE1


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Basic Information Top
Gene Symbol:SYNE1 ( 8B,ARCA1,C6orf98,CPG2,DKFZp781J13156,EDMD4,FLJ30878,FLJ41140,KIAA0796,KIAA1262,KIAA1756,MYNE1,SCAR8,dJ45H2.2 )
Gene Full Name: spectrin repeat containing, nuclear envelope 1
Band: 6q25.2
Quick LinksEntrez ID:23345; OMIM: 608441; Uniprot ID:SYNE1_HUMAN; ENSEMBL ID: ENSG00000131018; HGNC ID: 17089
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 body3 / 7076142
blastocyst0 / 623190 
fetus49 / 56401286
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult253 / 1939121130
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma11 / 82823132
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor13 / 26384549
glioma5 / 10688346
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia63 / 95842657
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma5 / 7175569
non-neoplasia9 / 9725092
normal319 / 336030794
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites0 / 400150 
bladder0 / 297570 
blood65 / 123478526
bone6 / 7165583
bone marrow1 / 4880120
brain133 / 1100989120
cervix0 / 481710 
connective tissue21 / 149255140
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye19 / 21105490
heart5 / 8962655
intestine8 / 23447234
kidney22 / 211777103
larynx0 / 241450 
liver4 / 20774319
lung19 / 33697456
lymph5 / 44270112
lymph node8 / 9161087
mammary gland4 / 15327126
mouth2 / 6705229
muscle10 / 10771592
nerve1 / 1576863
ovary3 / 10205129
pancreas6 / 21481227
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta8 / 28082528
prostate7 / 18934536
salivary gland1 / 2015549
skin12 / 21057456
spleen3 / 5395255
stomach7 / 9661972
testis18 / 33044254
thymus10 / 81131123
thyroid12 / 47473252
tonsil2 / 16999117
trachea3 / 5241357
umbilical cord0 / 136800 
uterus25 / 232878107
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209447_at
Cell line Expression level Expression bar
721_B_lymphoblasts50.75
Adipocyte41.9
AdrenalCortex51.85
Adrenalgland36.7
Amygdala134.25
Appendix48.7
AtrioventricularNode37.05
BDCA4+_DentriticCells81.05
Bonemarrow44.8
BronchialEpithelialCells22
CD105+_Endothelial35.65
CD14+_Monocytes48.1
CD19+_BCells(neg._sel.)72.75
CD33+_Myeloid66.45
CD34+67.25
CD4+_Tcells824.75
CD56+_NKCells910.3
CD71+_EarlyErythroid36.5
CD8+_Tcells873.15
CardiacMyocytes43.85
Caudatenucleus124.8
Cerebellum56.35
CerebellumPeduncles336.85
CiliaryGanglion34.8
CingulateCortex225.2
Colorectaladenocarcinoma29.45
DorsalRootGanglion37.05
FetalThyroid68.8
Fetalbrain232.25
Fetalliver39.6
Fetallung53.4
GlobusPallidus71.6
Heart41.85
Hypothalamus262.85
Kidney39.65
Leukemia_chronicMyelogenousK-56235.6
Leukemia_promyelocytic-HL-6035.7
Leukemialymphoblastic(MOLT-4)30.85
Liver31.4
Lung55.95
Lymphnode94.1
Lymphoma_burkitts(Daudi)63.15
Lymphoma_burkitts(Raji)64.1
MedullaOblongata153.75
OccipitalLobe168.25
OlfactoryBulb53.85
Ovary37.95
Pancreas34.45
PancreaticIslet48.75
ParietalLobe127
Pituitary197.4
Placenta39.6
Pons116.35
PrefrontalCortex576.05
Prostate53
Salivarygland37.95
SkeletalMuscle51.1
Skin34.3
SmoothMuscle40.55
Spinalcord62.55
SubthalamicNucleus166.3
SuperiorCervicalGanglion54.5
TemporalLobe108.1
Testis33.6
TestisGermCell176.15
TestisIntersitial42.6
TestisLeydigCell49.7
TestisSeminiferousTubule43.25
Thalamus97.05
Thymus41.5
Thyroid142.95
Tongue49.2
Tonsil49.75
Trachea42.55
TrigeminalGanglion48.95
Uterus108.95
UterusCorpus42.05
WholeBlood78.35
Wholebrain50.7
colon39.3
pineal_day105.86
pineal_night77.38
retina91.65
small_intestine27.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_622_PI416408490
  • 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
Amygdala8.39 ± 0.26
Basal Forebrain8.54 ± 0.16
Basal Part of Pons8.74 ± 0.34
Cerebellar Cortex8.86 ± 0.27
Cerebellar Nuclei8.23 ± 0.3
Claustrum8.28 ± 0.35
Epithalamus8.81 ± 0.54
Frontal Lobe8.27 ± 0.33
Globus Pallidus8.27 ± 0.4
Hypothalamus8.14 ± 0.24
Insula8.27 ± 0.23
Limbic Lobe8.5 ± 0.47
Mesencephalon8.26 ± 0.35
Myelencephalon8.35 ± 0.36
Occipital Lobe8.84 ± 0.42
Parietal Lobe8.47 ± 0.34
Pontine Tegmentum8.35 ± 0.38
Striatum8.64 ± 0.53
Subthalamus7.98 ± 0.26
Temporal Lobe8.29 ± 0.33
Thalamus8.31 ± 0.24
White Matter7.92 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Syne1CBCerebellum100
100
Syne1CTXCerebral cortex100
100
Syne1HIPHippocampal region100
100
Syne1HPFHippocampal formation100
100
Syne1HYHypothalamus100
100
Syne1LSXLateral septal complex100
100
Syne1MBMidbrain100
100
Syne1MYMedulla100
100
Syne1OLFOlfactory bulb100
100
Syne1PPons100
100
Syne1PALPallidum100
100
Syne1RHPRetrohippocampal region100
100
Syne1sAMYStriatum-like amygdalar nuclei100
100
Syne1STRStriatum100
100
Syne1STRdStriatum dorsal region100
100
Syne1STRvStriatum ventral region100
100
Syne1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010784 13 8376 8388 LLGECSSSIDSVK 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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