AutismKB 2.0

Annotation Detail for NGEF


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Basic Information Top
Gene Symbol:NGEF ( ARHGEF27,EPHEXIN )
Gene Full Name: neuronal guanine nucleotide exchange factor
Band: 2q37.1
Quick LinksEntrez ID:25791; OMIM: 605991; Uniprot ID:NGEF_HUMAN; ENSEMBL ID: ENSG00000066248; HGNC ID: 7807
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 
blastocyst0 / 623190 
fetus23 / 56401240
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult35 / 193912118
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 
chondrosarcoma7 / 8282384
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor1 / 2638453
glioma4 / 10688337
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal90 / 336030726
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 gland10 / 33197301
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone10 / 71655139
bone marrow0 / 488010 
brain44 / 110098939
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye10 / 21105447
heart0 / 896260 
intestine6 / 23447225
kidney7 / 21177733
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth3 / 6705244
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate5 / 18934526
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
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_P102364
  • 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
Amygdala11.82 ± 0.84
Basal Forebrain12.21 ± 0.79
Basal Part of Pons13.17 ± 0.3
Cerebellar Cortex9.75 ± 0.45
Cerebellar Nuclei8.79 ± 0.97
Claustrum12.11 ± 1.26
Epithalamus11.51 ± 1.12
Frontal Lobe11.36 ± 0.72
Globus Pallidus8.48 ± 2.89
Hypothalamus11.15 ± 0.68
Insula11.29 ± 0.36
Limbic Lobe11 ± 1.19
Mesencephalon10.37 ± 1.11
Myelencephalon11.07 ± 1.14
Occipital Lobe11.26 ± 0.81
Parietal Lobe11.45 ± 0.86
Pontine Tegmentum10.68 ± 0.93
Striatum12.98 ± 0.64
Subthalamus9.09 ± 0.39
Temporal Lobe11.22 ± 0.79
Thalamus10.13 ± 0.88
White Matter8.76 ± 1.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NgefCBCerebellum18.35
44.07
NgefCTXCerebral cortex100
100
NgefHIPHippocampal region82.54
100
NgefHPFHippocampal formation94.73
100
NgefHYHypothalamus56.9
55.04
NgefLSXLateral septal complex100
100
NgefMBMidbrain61.34
70.6
NgefMYMedulla28.99
33.24
NgefOLFOlfactory bulb98.52
100
NgefPPons36.5
41.49
NgefPALPallidum66.29
83.57
NgefRHPRetrohippocampal region100
100
NgefsAMYStriatum-like amygdalar nuclei100
100
NgefSTRStriatum100
100
NgefSTRdStriatum dorsal region100
100
NgefSTRvStriatum ventral region100
100
NgefTHThalamus20.67
21.38
Peptide Top

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  (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