AutismKB 2.0

Annotation Detail for RGNEF


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Basic Information Top
Gene Symbol:RGNEF ( DKFZp686P12164,FLJ21817,KIAA1998,RIP2,p190RHOGEF )
Gene Full Name: -
Band: 5q13.2
Quick LinksEntrez ID:64283; OMIM: 612790; Uniprot ID:RGNEF_HUMAN; ENSEMBL ID: ENSG00000214944; 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 body0 / 707610 
blastocyst0 / 623190 
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult41 / 193912121
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor10 / 96359103
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal58 / 336030717
ovarian tumor1 / 7668213
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites6 / 40015149
bladder0 / 297570 
blood0 / 1234780 
bone7 / 7165597
bone marrow0 / 488010 
brain9 / 11009898
cervix0 / 481710 
connective tissue14 / 14925593
ear2 / 16212123
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine2 / 2344728
kidney9 / 21177742
larynx0 / 241450 
liver11 / 20774352
lung15 / 33697444
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland1 / 2015549
skin4 / 21057418
spleen0 / 539520 
stomach2 / 9661920
testis0 / 3304420 
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219610_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.05
Adipocyte8.55
AdrenalCortex13.1
Adrenalgland7.45
Amygdala8.8
Appendix9.4
AtrioventricularNode6.75
BDCA4+_DentriticCells6.15
Bonemarrow9.8
BronchialEpithelialCells8.4
CD105+_Endothelial6.45
CD14+_Monocytes9.1
CD19+_BCells(neg._sel.)8.95
CD33+_Myeloid10.55
CD34+10.1
CD4+_Tcells7.3
CD56+_NKCells10
CD71+_EarlyErythroid7.1
CD8+_Tcells6.05
CardiacMyocytes11.15
Caudatenucleus7.6
Cerebellum6.95
CerebellumPeduncles9.85
CiliaryGanglion7
CingulateCortex8.85
Colorectaladenocarcinoma6.65
DorsalRootGanglion6.9
FetalThyroid8.45
Fetalbrain8.45
Fetalliver7.65
Fetallung6.85
GlobusPallidus6.45
Heart11.8
Hypothalamus9.05
Kidney7.45
Leukemia_chronicMyelogenousK-5627.75
Leukemia_promyelocytic-HL-607.45
Leukemialymphoblastic(MOLT-4)6.85
Liver16.35
Lung9.35
Lymphnode7.25
Lymphoma_burkitts(Daudi)11
Lymphoma_burkitts(Raji)12.3
MedullaOblongata10.55
OccipitalLobe7.6
OlfactoryBulb6.75
Ovary5.8
Pancreas7
PancreaticIslet9.15
ParietalLobe9.1
Pituitary9.95
Placenta8.5
Pons13.5
PrefrontalCortex10.6
Prostate9.9
Salivarygland10.9
SkeletalMuscle21.35
Skin8
SmoothMuscle8.05
Spinalcord9.15
SubthalamicNucleus7.85
SuperiorCervicalGanglion20.8
TemporalLobe10
Testis8.5
TestisGermCell7.15
TestisIntersitial7.3
TestisLeydigCell8.6
TestisSeminiferousTubule10.95
Thalamus8.5
Thymus6.65
Thyroid10.6
Tongue8.5
Tonsil8.35
Trachea9.3
TrigeminalGanglion11.5
Uterus7
UterusCorpus16
WholeBlood9.25
Wholebrain6.95
colon8.6
pineal_day10.52
pineal_night9.4
retina9.525
small_intestine8.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P177932
  • 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
Amygdala2.47 ± 1.12
Basal Forebrain2.04 ± 0.34
Basal Part of Pons1.65 ± 0.51
Cerebellar Cortex1.77 ± 0.8
Cerebellar Nuclei2.18 ± 0.72
Claustrum2.65 ± 0.7
Epithalamus1.86 ± 1.1
Frontal Lobe1.89 ± 0.75
Globus Pallidus2.52 ± 0.43
Hypothalamus2.09 ± 0.65
Insula2.14 ± 1.1
Limbic Lobe1.97 ± 0.7
Mesencephalon2.07 ± 0.78
Myelencephalon2 ± 0.75
Occipital Lobe2.07 ± 0.62
Parietal Lobe1.95 ± 0.78
Pontine Tegmentum2.18 ± 0.73
Striatum2.09 ± 0.73
Subthalamus2.05 ± 0.72
Temporal Lobe1.97 ± 0.77
Thalamus1.92 ± 0.7
White Matter2.16 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
RgnefCBCerebellum1.11
1.4
RgnefCTXCerebral cortex1.23
1.09
RgnefHIPHippocampal region7.06
6.93
RgnefHPFHippocampal formation6.93
6.64
RgnefHYHypothalamus0.25
0.19
RgnefLSXLateral septal complex1.14
2.09
RgnefMBMidbrain0.38
0.63
RgnefMYMedulla1.49
1.69
RgnefOLFOlfactory bulb3.61
4.48
RgnefPPons0.45
0.67
RgnefPALPallidum0.16
0.22
RgnefRHPRetrohippocampal region6.82
6.26
RgnefsAMYStriatum-like amygdalar nuclei0.43
0.4
RgnefSTRStriatum0.41
0.44
RgnefSTRdStriatum dorsal region0.39
0.37
RgnefSTRvStriatum ventral region0.18
0.17
RgnefTHThalamus0.55
0.6
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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