AutismKB 2.0

Annotation Detail for RALGAPA1


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Basic Information Top
Gene Symbol:RALGAPA1 ( DKFZp566D133,DKFZp667F074,GARNL1,GRIPE,KIAA0884,TULIP1 )
Gene Full Name: Ral GTPase activating protein, alpha subunit 1 (catalytic)
Band: 14q13.2
Quick LinksEntrez ID:253959; OMIM: 608884; Uniprot ID:RGPA1_HUMAN; ENSEMBL ID: ENSG00000174373; HGNC ID: 17770
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
fetus23 / 56401240
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult83 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia7 / 9584273
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal109 / 336030732
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow1 / 4880120
brain36 / 110098932
cervix0 / 481710 
connective tissue7 / 14925546
ear2 / 16212123
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine9 / 23447238
kidney12 / 21177756
larynx1 / 2414541
liver4 / 20774319
lung5 / 33697414
lymph0 / 442700 
lymph node7 / 9161076
mammary gland4 / 15327126
mouth0 / 670520 
muscle4 / 10771537
nerve1 / 1576863
ovary1 / 1020519
pancreas7 / 21481232
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta10 / 28082535
prostate4 / 18934521
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach4 / 9661941
testis10 / 33044230
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213049_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.65
Adipocyte11.8
AdrenalCortex17.25
Adrenalgland16.7
Amygdala234.4
Appendix25.6
AtrioventricularNode11
BDCA4+_DentriticCells15.85
Bonemarrow12.45
BronchialEpithelialCells14.65
CD105+_Endothelial10.3
CD14+_Monocytes15.25
CD19+_BCells(neg._sel.)22.35
CD33+_Myeloid13.3
CD34+17.1
CD4+_Tcells70.5
CD56+_NKCells22.9
CD71+_EarlyErythroid7
CD8+_Tcells51.25
CardiacMyocytes16.9
Caudatenucleus80.45
Cerebellum18.1
CerebellumPeduncles47.5
CiliaryGanglion11.7
CingulateCortex83.9
Colorectaladenocarcinoma11.7
DorsalRootGanglion12.55
FetalThyroid32.05
Fetalbrain177.05
Fetalliver12.7
Fetallung40.6
GlobusPallidus24.2
Heart18.2
Hypothalamus192.55
Kidney11.8
Leukemia_chronicMyelogenousK-56211.9
Leukemia_promyelocytic-HL-6013.65
Leukemialymphoblastic(MOLT-4)12.25
Liver13.25
Lung10.3
Lymphnode52.25
Lymphoma_burkitts(Daudi)19.05
Lymphoma_burkitts(Raji)27.8
MedullaOblongata55.35
OccipitalLobe67.7
OlfactoryBulb19.15
Ovary9.65
Pancreas11.6
PancreaticIslet42.65
ParietalLobe55.3
Pituitary93.3
Placenta13.4
Pons23.05
PrefrontalCortex205.75
Prostate40.45
Salivarygland28.7
SkeletalMuscle19.4
Skin18.15
SmoothMuscle10.7
Spinalcord85.3
SubthalamicNucleus43.25
SuperiorCervicalGanglion23.2
TemporalLobe29.35
Testis11.7
TestisGermCell13.3
TestisIntersitial12.95
TestisLeydigCell15.5
TestisSeminiferousTubule10.4
Thalamus75.1
Thymus10.55
Thyroid108.85
Tongue15.8
Tonsil14.8
Trachea17.5
TrigeminalGanglion15.9
Uterus120.5
UterusCorpus11.7
WholeBlood18.2
Wholebrain49.15
colon107.8
pineal_day460.46
pineal_night420.56
retina29.125
small_intestine36.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P922969
  • 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
Amygdala6.48 ± 0.46
Basal Forebrain6.6 ± 0.16
Basal Part of Pons6.78 ± 0.31
Cerebellar Cortex7.03 ± 0.14
Cerebellar Nuclei6.71 ± 0.36
Claustrum6.39 ± 0.58
Epithalamus6.95 ± 0.21
Frontal Lobe6.61 ± 0.27
Globus Pallidus6.4 ± 0.22
Hypothalamus6.61 ± 0.25
Insula6.64 ± 0.23
Limbic Lobe6.68 ± 0.26
Mesencephalon6.56 ± 0.5
Myelencephalon6.6 ± 0.37
Occipital Lobe7.09 ± 0.33
Parietal Lobe6.65 ± 0.33
Pontine Tegmentum6.69 ± 0.28
Striatum6.28 ± 0.3
Subthalamus6.66 ± 0.36
Temporal Lobe6.65 ± 0.33
Thalamus6.71 ± 0.32
White Matter7.26 ± 0.08
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Garnl1CBCerebellum13.07
14.57
Garnl1CTXCerebral cortex40
32.92
Garnl1HIPHippocampal region30.93
43.92
Garnl1HPFHippocampal formation35.38
40.9
Garnl1HYHypothalamus6.28
5.17
Garnl1LSXLateral septal complex4.89
3.3
Garnl1MBMidbrain10.46
10.37
Garnl1MYMedulla19.62
22.3
Garnl1OLFOlfactory bulb29.19
24.57
Garnl1PPons15.02
17.19
Garnl1PALPallidum6.76
6.03
Garnl1RHPRetrohippocampal region44.84
38.52
Garnl1sAMYStriatum-like amygdalar nuclei5.42
4.18
Garnl1STRStriatum5.77
4.34
Garnl1STRdStriatum dorsal region5.75
4.44
Garnl1STRvStriatum ventral region6.77
4.61
Garnl1THThalamus21.74
18.68
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00496610 17 360 376 TTEPEQSHSNTSTLTER Peptide Atlas

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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