AutismKB 2.0

Annotation Detail for RAPGEFL1


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Basic Information Top
Gene Symbol:RAPGEFL1 ( Link-GEFII,MGC134798,MGC134799 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF)-like 1
Band: 17q21.1
Quick LinksEntrez ID:51195; OMIM: NA; Uniprot ID:RPGFL_HUMAN; ENSEMBL ID: ENSG00000108352; HGNC ID: 17428
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 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult10 / 19391215
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 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal9 / 33603072
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine5 / 23447221
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218657_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.5
Adipocyte6.7
AdrenalCortex7.65
Adrenalgland5.8
Amygdala23.45
Appendix7.15
AtrioventricularNode5.55
BDCA4+_DentriticCells6.6
Bonemarrow6.85
BronchialEpithelialCells6.55
CD105+_Endothelial6.55
CD14+_Monocytes7.1
CD19+_BCells(neg._sel.)6.85
CD33+_Myeloid8.35
CD34+8.55
CD4+_Tcells7.2
CD56+_NKCells7.65
CD71+_EarlyErythroid6.3
CD8+_Tcells5.95
CardiacMyocytes9.75
Caudatenucleus6.15
Cerebellum5.65
CerebellumPeduncles7.75
CiliaryGanglion5
CingulateCortex7.15
Colorectaladenocarcinoma6.85
DorsalRootGanglion5.4
FetalThyroid6.6
Fetalbrain9
Fetalliver5.95
Fetallung5.5
GlobusPallidus5.25
Heart9.45
Hypothalamus7.55
Kidney5.65
Leukemia_chronicMyelogenousK-5626
Leukemia_promyelocytic-HL-605.95
Leukemialymphoblastic(MOLT-4)5.1
Liver9.3
Lung7.45
Lymphnode5.5
Lymphoma_burkitts(Daudi)8.8
Lymphoma_burkitts(Raji)9.8
MedullaOblongata6.3
OccipitalLobe7.15
OlfactoryBulb5.25
Ovary4.8
Pancreas5.75
PancreaticIslet7.2
ParietalLobe7.7
Pituitary7.85
Placenta6.75
Pons6.5
PrefrontalCortex24.15
Prostate7.8
Salivarygland5.45
SkeletalMuscle8.4
Skin5.85
SmoothMuscle7.55
Spinalcord7.1
SubthalamicNucleus6.3
SuperiorCervicalGanglion7.9
TemporalLobe6.25
Testis5.85
TestisGermCell5.6
TestisIntersitial5.65
TestisLeydigCell6.75
TestisSeminiferousTubule5.65
Thalamus6.95
Thymus5
Thyroid8.1
Tongue20.25
Tonsil6.95
Trachea5.7
TrigeminalGanglion7.1
Uterus5.55
UterusCorpus6.3
WholeBlood7.45
Wholebrain81.75
colon11.3
pineal_day8.34
pineal_night7.94
retina8.325
small_intestine6.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1986_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
Amygdala7.77 ± 0.69
Basal Forebrain6.62 ± 0.17
Basal Part of Pons6.86 ± 0.34
Cerebellar Cortex6.12 ± 0.39
Cerebellar Nuclei5.98 ± 0.69
Claustrum7.6 ± 0.81
Epithalamus5.41 ± 0.78
Frontal Lobe6.52 ± 0.69
Globus Pallidus5.56 ± 1
Hypothalamus5.98 ± 0.59
Insula6.74 ± 0.58
Limbic Lobe7.44 ± 0.64
Mesencephalon6.48 ± 0.57
Myelencephalon6.66 ± 0.66
Occipital Lobe7.31 ± 0.61
Parietal Lobe6.91 ± 0.74
Pontine Tegmentum6.58 ± 0.79
Striatum7 ± 0.61
Subthalamus6.27 ± 0.35
Temporal Lobe6.89 ± 0.59
Thalamus6.48 ± 0.45
White Matter4.47 ± 1.08
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rapgefl1CBCerebellum100
100
Rapgefl1CTXCerebral cortex100
100
Rapgefl1HIPHippocampal region100
100
Rapgefl1HPFHippocampal formation100
100
Rapgefl1HYHypothalamus100
100
Rapgefl1LSXLateral septal complex100
100
Rapgefl1MBMidbrain100
100
Rapgefl1MYMedulla92.39
98.94
Rapgefl1OLFOlfactory bulb100
100
Rapgefl1PPons83
83.05
Rapgefl1PALPallidum100
100
Rapgefl1RHPRetrohippocampal region100
100
Rapgefl1sAMYStriatum-like amygdalar nuclei100
100
Rapgefl1STRStriatum100
100
Rapgefl1STRdStriatum dorsal region100
100
Rapgefl1STRvStriatum ventral region100
100
Rapgefl1THThalamus100
100
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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