AutismKB 2.0

Annotation Detail for EAF1


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Basic Information Top
Gene Symbol:EAF1 ( - )
Gene Full Name: ELL associated factor 1
Band: 3p25.1
Quick LinksEntrez ID:85403; OMIM: 608315; Uniprot ID:EAF1_HUMAN; ENSEMBL ID: ENSG00000144597; HGNC ID: 20907
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
fetus10 / 56401217
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult73 / 193912137
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor14 / 26384553
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal89 / 336030726
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor3 / 12519123
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 
ascites2 / 4001549
bladder0 / 297570 
blood4 / 12347832
bone5 / 7165569
bone marrow0 / 488010 
brain26 / 110098923
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine6 / 23447225
kidney1 / 2117774
larynx0 / 241450 
liver6 / 20774328
lung9 / 33697426
lymph1 / 4427022
lymph node9 / 9161098
mammary gland10 / 15327165
mouth2 / 6705229
muscle5 / 10771546
nerve0 / 157680 
ovary5 / 10205148
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta7 / 28082524
prostate1 / 1893455
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach0 / 966190 
testis23 / 33044269
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P166742
  • 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
Amygdala6.3 ± 0.36
Basal Forebrain6.38 ± 0.16
Basal Part of Pons6.45 ± 0.33
Cerebellar Cortex6.22 ± 0.27
Cerebellar Nuclei6.44 ± 0.32
Claustrum6.12 ± 0.49
Epithalamus6.2 ± 0.34
Frontal Lobe6.53 ± 0.35
Globus Pallidus6.01 ± 0.27
Hypothalamus6.45 ± 0.42
Insula6.42 ± 0.31
Limbic Lobe6.5 ± 0.43
Mesencephalon6.33 ± 0.44
Myelencephalon6.4 ± 0.41
Occipital Lobe6.53 ± 0.32
Parietal Lobe6.39 ± 0.36
Pontine Tegmentum6.38 ± 0.44
Striatum6.83 ± 0.3
Subthalamus6.71 ± 0.48
Temporal Lobe6.33 ± 0.34
Thalamus6.49 ± 0.41
White Matter5.95 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eaf1CBCerebellum9.63
10.34
Eaf1CTXCerebral cortex7.1
4.74
Eaf1HIPHippocampal region3.08
2.65
Eaf1HPFHippocampal formation5.32
4.39
Eaf1HYHypothalamus3.59
2.53
Eaf1LSXLateral septal complex0.55
0.91
Eaf1MBMidbrain10.33
9.26
Eaf1MYMedulla22.75
24.8
Eaf1OLFOlfactory bulb10.3
7.91
Eaf1PPons13.76
14.43
Eaf1PALPallidum3.75
3.65
Eaf1RHPRetrohippocampal region9.56
7.16
Eaf1sAMYStriatum-like amygdalar nuclei2.39
1.64
Eaf1STRStriatum1.95
1.35
Eaf1STRdStriatum dorsal region1.98
1.37
Eaf1STRvStriatum ventral region1.94
1.15
Eaf1THThalamus5.7
4.13
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