AutismKB 2.0

Annotation Detail for EFHA1


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Basic Information Top
Gene Symbol:EFHA1 ( 1110008L20Rik,FLJ25016,FLJ34588 )
Gene Full Name: EF-hand domain family, member A1
Band: 13q12.11
Quick LinksEntrez ID:221154; OMIM: 610632; Uniprot ID:EFHA1_HUMAN; ENSEMBL ID: ENSG00000165487; HGNC ID:
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 body1 / 7076114
blastocyst3 / 6231948
fetus28 / 56401249
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult74 / 193912138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma6 / 7175583
non-neoplasia2 / 9725020
normal197 / 336030758
ovarian tumor2 / 7668226
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone4 / 7165555
bone marrow2 / 4880140
brain56 / 110098950
cervix1 / 4817120
connective tissue3 / 14925520
ear3 / 16212185
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye8 / 21105437
heart4 / 8962644
intestine8 / 23447234
kidney16 / 21177775
larynx2 / 2414582
liver7 / 20774333
lung14 / 33697441
lymph1 / 4427022
lymph node11 / 91610120
mammary gland5 / 15327132
mouth1 / 6705214
muscle5 / 10771546
nerve1 / 1576863
ovary3 / 10205129
pancreas25 / 214812116
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta18 / 28082564
prostate10 / 18934552
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach3 / 9661931
testis24 / 33044272
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212410_at
Cell line Expression level Expression bar
721_B_lymphoblasts173.75
Adipocyte34.2
AdrenalCortex26.65
Adrenalgland16.1
Amygdala218.75
Appendix17.6
AtrioventricularNode13.8
BDCA4+_DentriticCells198.25
Bonemarrow13.15
BronchialEpithelialCells47.1
CD105+_Endothelial464.45
CD14+_Monocytes114.85
CD19+_BCells(neg._sel.)211.85
CD33+_Myeloid167.65
CD34+245.7
CD4+_Tcells152.2
CD56+_NKCells219.75
CD71+_EarlyErythroid180.3
CD8+_Tcells150.25
CardiacMyocytes24.6
Caudatenucleus40.45
Cerebellum13.6
CerebellumPeduncles19.85
CiliaryGanglion12.2
CingulateCortex24.65
Colorectaladenocarcinoma134.4
DorsalRootGanglion13.2
FetalThyroid30.25
Fetalbrain168.25
Fetalliver41.75
Fetallung67
GlobusPallidus11.6
Heart15.05
Hypothalamus111.05
Kidney14.5
Leukemia_chronicMyelogenousK-56227.15
Leukemia_promyelocytic-HL-60160.25
Leukemialymphoblastic(MOLT-4)39.65
Liver17.45
Lung9
Lymphnode94.3
Lymphoma_burkitts(Daudi)64.05
Lymphoma_burkitts(Raji)44.7
MedullaOblongata29.4
OccipitalLobe48.95
OlfactoryBulb18.9
Ovary12.25
Pancreas95.2
PancreaticIslet32.5
ParietalLobe29.1
Pituitary118.2
Placenta27.7
Pons18.8
PrefrontalCortex166.85
Prostate56.65
Salivarygland30
SkeletalMuscle26.95
Skin14.1
SmoothMuscle37.65
Spinalcord106.65
SubthalamicNucleus20.75
SuperiorCervicalGanglion19.65
TemporalLobe15.95
Testis17.8
TestisGermCell59.9
TestisIntersitial27
TestisLeydigCell34.1
TestisSeminiferousTubule32.65
Thalamus45.95
Thymus14.7
Thyroid339.95
Tongue22.75
Tonsil26.65
Trachea22.55
TrigeminalGanglion17.1
Uterus69
UterusCorpus14.55
WholeBlood199.05
Wholebrain42.6
colon95
pineal_day234.6
pineal_night213.28
retina77.15
small_intestine46.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2002_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
Amygdala8.25 ± 0.23
Basal Forebrain8.14 ± 0.04
Basal Part of Pons8.02 ± 0.19
Cerebellar Cortex8.32 ± 0.22
Cerebellar Nuclei8.18 ± 0.22
Claustrum8.31 ± 0.35
Epithalamus8.28 ± 0.24
Frontal Lobe8.1 ± 0.25
Globus Pallidus8.26 ± 0.24
Hypothalamus8.12 ± 0.13
Insula8.09 ± 0.16
Limbic Lobe8.21 ± 0.31
Mesencephalon8.26 ± 0.3
Myelencephalon8.15 ± 0.24
Occipital Lobe8.48 ± 0.32
Parietal Lobe8.16 ± 0.23
Pontine Tegmentum8.18 ± 0.25
Striatum8.23 ± 0.26
Subthalamus8.12 ± 0.17
Temporal Lobe8.09 ± 0.23
Thalamus8.08 ± 0.22
White Matter8.93 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Efha1CBCerebellum29.58
43.63
Efha1CTXCerebral cortex0.93
0.66
Efha1HIPHippocampal region1.9
0.97
Efha1HPFHippocampal formation1.65
1.02
Efha1HYHypothalamus0.98
0.64
Efha1LSXLateral septal complex0.41
0.24
Efha1MBMidbrain0.45
0.43
Efha1MYMedulla23.63
28.86
Efha1OLFOlfactory bulb1.5
0.95
Efha1PPons0.76
0.75
Efha1PALPallidum0.58
0.83
Efha1RHPRetrohippocampal region1.3
1
Efha1sAMYStriatum-like amygdalar nuclei1
0.51
Efha1STRStriatum0.59
0.35
Efha1STRdStriatum dorsal region0.27
0.16
Efha1STRvStriatum ventral region1.06
0.7
Efha1THThalamus0.47
0.29
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00095546 20 131 150 DIEDTLSGIQTAGCGSTFFR 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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