AutismKB 2.0

Annotation Detail for EFCAB2


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Basic Information Top
Gene Symbol:EFCAB2 ( FLJ33608,MGC12458 )
Gene Full Name: EF-hand calcium binding domain 2
Band: 1q44
Quick LinksEntrez ID:84288; OMIM: NA; Uniprot ID:EFCB2_HUMAN; ENSEMBL ID: ENSG00000203666; HGNC ID: 28166
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 
blastocyst1 / 6231916
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult25 / 193912112
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma7 / 17475400
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor2 / 17290115
gastrointestinal tumor2 / 11936916
germ cell tumor8 / 26384530
glioma6 / 10688356
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal67 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder7 / 29757235
blood0 / 1234780 
bone1 / 7165513
bone marrow2 / 4880140
brain23 / 110098920
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus2 / 2020998
eye1 / 2110544
heart2 / 8962622
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland2 / 2015599
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis16 / 33044248
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211200_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.1
Adipocyte12.25
AdrenalCortex24.65
Adrenalgland13.45
Amygdala11.35
Appendix25.8
AtrioventricularNode23.7
BDCA4+_DentriticCells14.5
Bonemarrow19.1
BronchialEpithelialCells11.5
CD105+_Endothelial12.8
CD14+_Monocytes16.3
CD19+_BCells(neg._sel.)13.15
CD33+_Myeloid16.3
CD34+17
CD4+_Tcells11.65
CD56+_NKCells13.05
CD71+_EarlyErythroid13.9
CD8+_Tcells9.8
CardiacMyocytes37.45
Caudatenucleus12
Cerebellum11.15
CerebellumPeduncles19
CiliaryGanglion24.85
CingulateCortex15.85
Colorectaladenocarcinoma12.65
DorsalRootGanglion19.9
FetalThyroid16.45
Fetalbrain12.15
Fetalliver11.95
Fetallung8.55
GlobusPallidus13.75
Heart32.05
Hypothalamus12.45
Kidney13.95
Leukemia_chronicMyelogenousK-56212.3
Leukemia_promyelocytic-HL-6011.65
Leukemialymphoblastic(MOLT-4)8.9
Liver28.3
Lung14.1
Lymphnode9.8
Lymphoma_burkitts(Daudi)19.25
Lymphoma_burkitts(Raji)24.25
MedullaOblongata12
OccipitalLobe11.8
OlfactoryBulb10.2
Ovary13.65
Pancreas13.75
PancreaticIslet15.3
ParietalLobe18.6
Pituitary16
Placenta12.55
Pons15.4
PrefrontalCortex15.6
Prostate14.1
Salivarygland12.9
SkeletalMuscle32.05
Skin23.6
SmoothMuscle15.65
Spinalcord14.4
SubthalamicNucleus16.1
SuperiorCervicalGanglion37.35
TemporalLobe13.7
Testis11.7
TestisGermCell13.15
TestisIntersitial13.95
TestisLeydigCell16.9
TestisSeminiferousTubule11.55
Thalamus15.35
Thymus9
Thyroid15.55
Tongue21.4
Tonsil14.45
Trachea10.5
TrigeminalGanglion29
Uterus9.3
UterusCorpus19.25
WholeBlood14.45
Wholebrain8.9
colon12.6
pineal_day20.24
pineal_night18.82
retina16.075
small_intestine11.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P149476
  • 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
Amygdala6.7 ± 0.31
Basal Forebrain7.18 ± 0.28
Basal Part of Pons6.37 ± 0.29
Cerebellar Cortex6.44 ± 0.18
Cerebellar Nuclei6.89 ± 0.39
Claustrum6.16 ± 0.35
Epithalamus7.9 ± 0.54
Frontal Lobe6.78 ± 0.38
Globus Pallidus7.97 ± 0.19
Hypothalamus7.06 ± 0.33
Insula6.55 ± 0.2
Limbic Lobe6.6 ± 0.35
Mesencephalon7.04 ± 0.4
Myelencephalon6.8 ± 0.49
Occipital Lobe6.69 ± 0.32
Parietal Lobe6.89 ± 0.38
Pontine Tegmentum6.91 ± 0.45
Striatum7.35 ± 0.46
Subthalamus6.98 ± 0.1
Temporal Lobe6.58 ± 0.34
Thalamus6.85 ± 0.29
White Matter8.17 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Efcab2CBCerebellum1.25
1.56
Efcab2CTXCerebral cortex3.6
2.92
Efcab2HIPHippocampal region1.2
0.92
Efcab2HPFHippocampal formation2.9
2.31
Efcab2HYHypothalamus0.27
0.48
Efcab2LSXLateral septal complex0.4
2.32
Efcab2MBMidbrain0.49
0.77
Efcab2MYMedulla2.33
2.3
Efcab2OLFOlfactory bulb5.04
4.64
Efcab2PPons0.65
0.91
Efcab2PALPallidum0.43
0.31
Efcab2RHPRetrohippocampal region4.99
3.67
Efcab2sAMYStriatum-like amygdalar nuclei0.24
0.35
Efcab2STRStriatum0.35
0.47
Efcab2STRdStriatum dorsal region0.29
0.31
Efcab2STRvStriatum ventral region0.59
0.39
Efcab2THThalamus0.57
0.51
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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