AutismKB 2.0

Annotation Detail for EFS


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Basic Information Top
Gene Symbol:EFS ( CAS3,CASS3,EFS1,EFS2,HEFS,SIN )
Gene Full Name: embryonal Fyn-associated substrate
Band: 14q11.2
Quick LinksEntrez ID:10278; OMIM: 609906; Uniprot ID:EFS_HUMAN; ENSEMBL ID: ENSG00000100842; HGNC ID: 16898
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 body9 / 70761127
blastocyst16 / 62319256
fetus40 / 56401270
neonate3 / 3109796
infant0 / 236200 
juvenile2 / 5555635
adult61 / 193912131
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma14 / 106883130
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal158 / 336030747
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
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 
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain53 / 110098948
cervix0 / 481710 
connective tissue9 / 14925560
ear3 / 16212185
embryonic tissue30 / 215722139
esophagus0 / 202090 
eye7 / 21105433
heart9 / 89626100
intestine2 / 2344728
kidney7 / 21177733
larynx1 / 2414541
liver0 / 2077430 
lung9 / 33697426
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth2 / 6705229
muscle1 / 1077159
nerve2 / 15768126
ovary2 / 10205119
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate11 / 18934558
salivary gland0 / 201550 
skin11 / 21057452
spleen0 / 539520 
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210880_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.1
Adipocyte5.35
AdrenalCortex12.65
Adrenalgland4.3
Amygdala6.8
Appendix6.15
AtrioventricularNode4.9
BDCA4+_DentriticCells4.75
Bonemarrow5.6
BronchialEpithelialCells4.85
CD105+_Endothelial7.1
CD14+_Monocytes4.8
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid6.1
CD34+6.05
CD4+_Tcells4.95
CD56+_NKCells5.4
CD71+_EarlyErythroid4.15
CD8+_Tcells4.4
CardiacMyocytes5.85
Caudatenucleus7.5
Cerebellum5.55
CerebellumPeduncles6.35
CiliaryGanglion5.2
CingulateCortex6.35
Colorectaladenocarcinoma4.75
DorsalRootGanglion5.45
FetalThyroid4.9
Fetalbrain4.9
Fetalliver4.15
Fetallung4.55
GlobusPallidus3.8
Heart7.45
Hypothalamus7.75
Kidney4.2
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)3.75
Liver6.5
Lung5.35
Lymphnode4.1
Lymphoma_burkitts(Daudi)6.2
Lymphoma_burkitts(Raji)6.45
MedullaOblongata7.65
OccipitalLobe8.7
OlfactoryBulb9.75
Ovary3.65
Pancreas3.95
PancreaticIslet5.2
ParietalLobe8.7
Pituitary5.85
Placenta36.1
Pons5.8
PrefrontalCortex6.45
Prostate6.3
Salivarygland3.9
SkeletalMuscle8.05
Skin8.7
SmoothMuscle4.75
Spinalcord16.55
SubthalamicNucleus5
SuperiorCervicalGanglion8.4
TemporalLobe4.55
Testis4.4
TestisGermCell4.25
TestisIntersitial4.3
TestisLeydigCell4.8
TestisSeminiferousTubule6.6
Thalamus10.2
Thymus4.15
Thyroid6.1
Tongue5.8
Tonsil4.95
Trachea5.85
TrigeminalGanglion6.8
Uterus4.2
UterusCorpus5.75
WholeBlood5.05
Wholebrain4.1
colon4.8
pineal_day8.66
pineal_night7.6
retina15.825
small_intestine4.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5967_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
Amygdala4.28 ± 0.72
Basal Forebrain4.29 ± 0.53
Basal Part of Pons4.28 ± 0.68
Cerebellar Cortex3.89 ± 0.48
Cerebellar Nuclei4.47 ± 0.42
Claustrum4.27 ± 0.63
Epithalamus4.32 ± 0.37
Frontal Lobe4.04 ± 0.7
Globus Pallidus5.46 ± 0.54
Hypothalamus3.79 ± 0.48
Insula3.47 ± 0.85
Limbic Lobe4.16 ± 0.67
Mesencephalon4.24 ± 0.7
Myelencephalon4.2 ± 0.65
Occipital Lobe4.1 ± 0.78
Parietal Lobe4.01 ± 0.66
Pontine Tegmentum4.02 ± 0.6
Striatum4.49 ± 0.59
Subthalamus3.59 ± 0.92
Temporal Lobe4 ± 0.62
Thalamus4.28 ± 0.61
White Matter6.02 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EfsCBCerebellum5.78
8.13
EfsCTXCerebral cortex3.03
2.9
EfsHIPHippocampal region4.29
8.73
EfsHPFHippocampal formation3.96
6
EfsHYHypothalamus3.61
2.45
EfsLSXLateral septal complex2.98
2.13
EfsMBMidbrain2.76
2.42
EfsMYMedulla3.86
3.72
EfsOLFOlfactory bulb7.51
6.07
EfsPPons3.93
3.37
EfsPALPallidum2.18
1.54
EfsRHPRetrohippocampal region3.3
2.48
EfssAMYStriatum-like amygdalar nuclei1.33
1.16
EfsSTRStriatum2.13
1.76
EfsSTRdStriatum dorsal region2.22
2.05
EfsSTRvStriatum ventral region1.9
1.04
EfsTHThalamus2.9
3.04
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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