AutismKB 2.0

Annotation Detail for RPH3AL


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Basic Information Top
Gene Symbol:RPH3AL ( NOC2 )
Gene Full Name: rabphilin 3A-like (without C2 domains)
Band: 17p13.3
Quick LinksEntrez ID:9501; OMIM: 604881; Uniprot ID:RPH3L_HUMAN; ENSEMBL ID: ENSG00000181031; HGNC ID: 10296
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 body1 / 7076114
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult22 / 193912111
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 
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma5 / 10688346
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor9 / 10312787
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal53 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain14 / 110098912
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine6 / 23447225
kidney7 / 21177733
larynx0 / 241450 
liver4 / 20774319
lung18 / 33697453
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth5 / 6705274
muscle2 / 10771518
nerve0 / 157680 
ovary2 / 10205119
pancreas19 / 21481288
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate6 / 18934531
salivary gland0 / 201550 
skin2 / 2105749
spleen5 / 5395292
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221614_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.2
Adipocyte5.1
AdrenalCortex5.8
Adrenalgland4.55
Amygdala5.45
Appendix5.65
AtrioventricularNode4.7
BDCA4+_DentriticCells7.1
Bonemarrow5.4
BronchialEpithelialCells5.2
CD105+_Endothelial5.3
CD14+_Monocytes5.65
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid7.35
CD34+6.5
CD4+_Tcells5.6
CD56+_NKCells6.35
CD71+_EarlyErythroid5
CD8+_Tcells5.05
CardiacMyocytes7.3
Caudatenucleus4.75
Cerebellum4.25
CerebellumPeduncles6.2
CiliaryGanglion4.15
CingulateCortex5.45
Colorectaladenocarcinoma9.3
DorsalRootGanglion4.3
FetalThyroid7.1
Fetalbrain5.1
Fetalliver4.65
Fetallung4.65
GlobusPallidus4
Heart8.05
Hypothalamus5.55
Kidney4.55
Leukemia_chronicMyelogenousK-5624.8
Leukemia_promyelocytic-HL-604.65
Leukemialymphoblastic(MOLT-4)4.1
Liver25
Lung6.85
Lymphnode4.4
Lymphoma_burkitts(Daudi)6.8
Lymphoma_burkitts(Raji)7.65
MedullaOblongata4.75
OccipitalLobe4.6
OlfactoryBulb4.2
Ovary3.6
Pancreas6.8
PancreaticIslet63.2
ParietalLobe5.7
Pituitary14.85
Placenta5.5
Pons5.05
PrefrontalCortex6.35
Prostate6.25
Salivarygland4.3
SkeletalMuscle6.95
Skin4.4
SmoothMuscle5.9
Spinalcord5.55
SubthalamicNucleus5
SuperiorCervicalGanglion7.2
TemporalLobe4.85
Testis4.5
TestisGermCell4.35
TestisIntersitial4.45
TestisLeydigCell5.25
TestisSeminiferousTubule4.55
Thalamus5.4
Thymus4.05
Thyroid10.45
Tongue5.6
Tonsil5.2
Trachea4.45
TrigeminalGanglion5.9
Uterus4.35
UterusCorpus5.45
WholeBlood5.75
Wholebrain4.55
colon6
pineal_day6.48
pineal_night6.38
retina6.4
small_intestine5.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4726_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
Amygdala4.91 ± 0.57
Basal Forebrain4.87 ± 0.44
Basal Part of Pons4.79 ± 0.96
Cerebellar Cortex4.62 ± 0.4
Cerebellar Nuclei4.77 ± 0.43
Claustrum5.43 ± 0.78
Epithalamus4.43 ± 0.39
Frontal Lobe4.71 ± 0.62
Globus Pallidus5.36 ± 0.62
Hypothalamus4.46 ± 0.47
Insula4.68 ± 0.46
Limbic Lobe4.92 ± 0.66
Mesencephalon4.83 ± 0.62
Myelencephalon4.83 ± 0.63
Occipital Lobe4.73 ± 0.63
Parietal Lobe4.7 ± 0.62
Pontine Tegmentum4.68 ± 0.45
Striatum4.77 ± 0.69
Subthalamus3.91 ± 1.02
Temporal Lobe4.7 ± 0.62
Thalamus4.76 ± 0.62
White Matter5.12 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rph3alCBCerebellum11.33
14.08
Rph3alCTXCerebral cortex19.18
15.99
Rph3alHIPHippocampal region17.99
23.01
Rph3alHPFHippocampal formation19.17
21.44
Rph3alHYHypothalamus3.36
2.99
Rph3alLSXLateral septal complex1.76
1.33
Rph3alMBMidbrain2.46
2.34
Rph3alMYMedulla11.51
13.03
Rph3alOLFOlfactory bulb25.02
24.88
Rph3alPPons3.91
4.58
Rph3alPALPallidum14.62
14.51
Rph3alRHPRetrohippocampal region21.17
19.02
Rph3alsAMYStriatum-like amygdalar nuclei28.31
20.52
Rph3alSTRStriatum16.53
13.41
Rph3alSTRdStriatum dorsal region16.27
13.85
Rph3alSTRvStriatum ventral region14.86
10.67
Rph3alTHThalamus14.56
13.62
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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