AutismKB 2.0

Annotation Detail for RPH3A


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Basic Information Top
Gene Symbol:RPH3A ( KIAA0985 )
Gene Full Name: rabphilin 3A homolog (mouse)
Band: 12q24.13
Quick LinksEntrez ID:22895; OMIM: 612159; Uniprot ID:RP3A_HUMAN; ENSEMBL ID: ENSG00000089169; HGNC ID: 17056
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 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult37 / 193912119
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma7 / 10688365
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal355 / 3360307105
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor5 / 12494940
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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain372 / 1100989337
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205230_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.1
Adipocyte7.65
AdrenalCortex7.6
Adrenalgland5.7
Amygdala152.1
Appendix7.3
AtrioventricularNode5
BDCA4+_DentriticCells6.6
Bonemarrow8.95
BronchialEpithelialCells6.4
CD105+_Endothelial6.25
CD14+_Monocytes10.15
CD19+_BCells(neg._sel.)6.75
CD33+_Myeloid9.3
CD34+7.5
CD4+_Tcells6.6
CD56+_NKCells7.5
CD71+_EarlyErythroid6
CD8+_Tcells5.85
CardiacMyocytes8.9
Caudatenucleus31.4
Cerebellum75.5
CerebellumPeduncles70.8
CiliaryGanglion5.45
CingulateCortex395.6
Colorectaladenocarcinoma6.45
DorsalRootGanglion5.4
FetalThyroid6.3
Fetalbrain13.9
Fetalliver5.7
Fetallung5.25
GlobusPallidus86.55
Heart9.6
Hypothalamus49.35
Kidney10.25
Leukemia_chronicMyelogenousK-5625.8
Leukemia_promyelocytic-HL-605.6
Leukemialymphoblastic(MOLT-4)5.1
Liver10.05
Lung7
Lymphnode5.3
Lymphoma_burkitts(Daudi)8.4
Lymphoma_burkitts(Raji)9.25
MedullaOblongata236.9
OccipitalLobe247.75
OlfactoryBulb7.3
Ovary4.25
Pancreas5.15
PancreaticIslet6.75
ParietalLobe164.3
Pituitary7.55
Placenta6.5
Pons68.95
PrefrontalCortex585.95
Prostate7.35
Salivarygland5.15
SkeletalMuscle8.8
Skin5.35
SmoothMuscle7.2
Spinalcord13.65
SubthalamicNucleus235.1
SuperiorCervicalGanglion8.85
TemporalLobe192.2
Testis5.5
TestisGermCell5.25
TestisIntersitial5.35
TestisLeydigCell6.4
TestisSeminiferousTubule5.5
Thalamus207.95
Thymus4.9
Thyroid7.9
Tongue6.65
Tonsil6.3
Trachea5.35
TrigeminalGanglion6.55
Uterus5.1
UterusCorpus6.3
WholeBlood7.9
Wholebrain450.85
colon6.4
pineal_day7.84
pineal_night7.5
retina7.625
small_intestine6.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_39_PI416408490
  • 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
Amygdala8.2 ± 0.6
Basal Forebrain8.53 ± 0.39
Basal Part of Pons6.66 ± 0.48
Cerebellar Cortex7.69 ± 0.52
Cerebellar Nuclei7.33 ± 0.86
Claustrum9.17 ± 0.43
Epithalamus6.73 ± 0.52
Frontal Lobe7.96 ± 0.79
Globus Pallidus6.21 ± 1.44
Hypothalamus7.45 ± 0.7
Insula7.83 ± 0.65
Limbic Lobe7.99 ± 0.93
Mesencephalon7.73 ± 1.09
Myelencephalon8.13 ± 1
Occipital Lobe8.92 ± 0.86
Parietal Lobe8.35 ± 0.71
Pontine Tegmentum8.13 ± 0.59
Striatum7.21 ± 0.95
Subthalamus7.81 ± 0.09
Temporal Lobe8.04 ± 0.66
Thalamus8.5 ± 0.9
White Matter5.42 ± 0.9
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rph3aCBCerebellum100
100
Rph3aCTXCerebral cortex100
100
Rph3aHIPHippocampal region100
100
Rph3aHPFHippocampal formation100
100
Rph3aHYHypothalamus97.45
100
Rph3aLSXLateral septal complex100
100
Rph3aMBMidbrain96.27
100
Rph3aMYMedulla94.05
100
Rph3aOLFOlfactory bulb89.38
100
Rph3aPPons83.26
100
Rph3aPALPallidum87.27
99.56
Rph3aRHPRetrohippocampal region100
100
Rph3asAMYStriatum-like amygdalar nuclei96.3
100
Rph3aSTRStriatum91.54
92.5
Rph3aSTRdStriatum dorsal region93.5
94.2
Rph3aSTRvStriatum ventral region68.06
69.3
Rph3aTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RP3A_HUMAN_263 7 263 269 SPAGLRR 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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