AutismKB 2.0

Annotation Detail for RAP1GAP


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Basic Information Top
Gene Symbol:RAP1GAP ( KIAA0474,RAP1GA1,RAP1GAP1,RAP1GAPII,RAPGAP )
Gene Full Name: RAP1 GTPase activating protein
Band: 1p36.12
Quick LinksEntrez ID:5909; OMIM: 600278; Uniprot ID:RPGP1_HUMAN; ENSEMBL ID: ENSG00000076864; HGNC ID: 9858
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 
blastocyst2 / 6231932
fetus11 / 56401219
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult90 / 193912146
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor21 / 119369175
germ cell tumor0 / 2638450 
glioma6 / 10688356
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal102 / 336030730
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites8 / 40015199
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain62 / 110098956
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye7 / 21105433
heart1 / 8962611
intestine6 / 23447225
kidney14 / 21177766
larynx1 / 2414541
liver0 / 2077430 
lung9 / 33697426
lymph0 / 442700 
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary3 / 10205129
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta21 / 28082574
prostate5 / 18934526
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach10 / 96619103
testis0 / 3304420 
thymus0 / 811310 
thyroid7 / 47473147
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203911_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.4
Adipocyte13.1
AdrenalCortex132.05
Adrenalgland138.8
Amygdala221.4
Appendix15.4
AtrioventricularNode10.35
BDCA4+_DentriticCells13.35
Bonemarrow15.1
BronchialEpithelialCells13.3
CD105+_Endothelial15.4
CD14+_Monocytes14.6
CD19+_BCells(neg._sel.)14
CD33+_Myeloid16.75
CD34+17.15
CD4+_Tcells13.55
CD56+_NKCells11.2
CD71+_EarlyErythroid27.6
CD8+_Tcells11.5
CardiacMyocytes18.9
Caudatenucleus553.25
Cerebellum50.4
CerebellumPeduncles82.25
CiliaryGanglion9.55
CingulateCortex145.55
Colorectaladenocarcinoma15.65
DorsalRootGanglion11.7
FetalThyroid465.5
Fetalbrain116.5
Fetalliver13.25
Fetallung20.05
GlobusPallidus58.9
Heart19.3
Hypothalamus129.8
Kidney73.35
Leukemia_chronicMyelogenousK-56221.8
Leukemia_promyelocytic-HL-6013.25
Leukemialymphoblastic(MOLT-4)11.95
Liver32.45
Lung40.55
Lymphnode13.2
Lymphoma_burkitts(Daudi)18.6
Lymphoma_burkitts(Raji)21.45
MedullaOblongata207.1
OccipitalLobe118.1
OlfactoryBulb12.5
Ovary8.75
Pancreas23.65
PancreaticIslet36.55
ParietalLobe91.05
Pituitary46.9
Placenta25.45
Pons124.25
PrefrontalCortex248.25
Prostate45
Salivarygland14.05
SkeletalMuscle17.25
Skin11.2
SmoothMuscle16.5
Spinalcord18.15
SubthalamicNucleus191.75
SuperiorCervicalGanglion17.15
TemporalLobe81.25
Testis13.4
TestisGermCell10.4
TestisIntersitial10.85
TestisLeydigCell14.6
TestisSeminiferousTubule12.65
Thalamus67.8
Thymus11.1
Thyroid622.1
Tongue14.15
Tonsil13.85
Trachea15.95
TrigeminalGanglion14.6
Uterus12.65
UterusCorpus13.4
WholeBlood13.85
Wholebrain234.75
colon16.25
pineal_day28.76
pineal_night45.48
retina19.425
small_intestine15.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P45976
  • 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
Amygdala7.21 ± 0.63
Basal Forebrain6.44 ± 0.28
Basal Part of Pons6.59 ± 0.57
Cerebellar Cortex5.77 ± 0.23
Cerebellar Nuclei5.65 ± 0.67
Claustrum7.3 ± 0.58
Epithalamus5.04 ± 0.51
Frontal Lobe6.07 ± 0.48
Globus Pallidus5.78 ± 0.37
Hypothalamus5.89 ± 0.52
Insula6.13 ± 0.49
Limbic Lobe6.64 ± 0.5
Mesencephalon6.2 ± 0.72
Myelencephalon6.3 ± 0.69
Occipital Lobe6.23 ± 0.57
Parietal Lobe6.22 ± 0.64
Pontine Tegmentum5.98 ± 0.49
Striatum7.74 ± 0.6
Subthalamus5.85 ± 0.11
Temporal Lobe6.29 ± 0.46
Thalamus6.02 ± 0.59
White Matter5.1 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rap1gapCBCerebellum100
100
Rap1gapCTXCerebral cortex100
100
Rap1gapHIPHippocampal region100
100
Rap1gapHPFHippocampal formation100
100
Rap1gapHYHypothalamus100
100
Rap1gapLSXLateral septal complex100
100
Rap1gapMBMidbrain100
100
Rap1gapMYMedulla100
100
Rap1gapOLFOlfactory bulb100
100
Rap1gapPPons100
100
Rap1gapPALPallidum100
100
Rap1gapRHPRetrohippocampal region100
100
Rap1gapsAMYStriatum-like amygdalar nuclei100
100
Rap1gapSTRStriatum100
100
Rap1gapSTRdStriatum dorsal region100
100
Rap1gapSTRvStriatum ventral region100
100
Rap1gapTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00079720 22 168 189 TYHDVIPISCLTEFPNVVQMAK Peptide Atlas
RPGP1_HUMAN_1 9 1 9 MIEKMQGSR PRIDE

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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