AutismKB 2.0

Annotation Detail for RAB30


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Basic Information Top
Gene Symbol:RAB30 ( - )
Gene Full Name: RAB30, member RAS oncogene family
Band: 11q14.1
Quick LinksEntrez ID:27314; OMIM: 605693; Uniprot ID:RAB30_HUMAN; ENSEMBL ID: ENSG00000137502; HGNC ID: 9770
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 
fetus12 / 56401221
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult29 / 193912114
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor2 / 17290115
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal79 / 336030723
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow0 / 488010 
brain35 / 110098931
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus2 / 2020998
eye0 / 2110540 
heart2 / 8962622
intestine0 / 2344720 
kidney2 / 2117779
larynx2 / 2414582
liver6 / 20774328
lung2 / 3369745
lymph0 / 442700 
lymph node12 / 91610130
mammary gland7 / 15327145
mouth2 / 6705229
muscle5 / 10771546
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta6 / 28082521
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen3 / 5395255
stomach0 / 966190 
testis3 / 3304429
thymus3 / 8113136
thyroid0 / 474730 
tonsil1 / 1699958
trachea4 / 5241376
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206530_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.15
Adipocyte4.1
AdrenalCortex4.5
Adrenalgland3.55
Amygdala4.35
Appendix4.25
AtrioventricularNode3.45
BDCA4+_DentriticCells4.5
Bonemarrow4.15
BronchialEpithelialCells4.1
CD105+_Endothelial4.15
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.95
CD33+_Myeloid5.3
CD34+5.2
CD4+_Tcells4.5
CD56+_NKCells5
CD71+_EarlyErythroid3.9
CD8+_Tcells4
CardiacMyocytes5.65
Caudatenucleus3.7
Cerebellum3.35
CerebellumPeduncles4.85
CiliaryGanglion3.1
CingulateCortex4.3
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.25
FetalThyroid4
Fetalbrain4.1
Fetalliver3.65
Fetallung3.4
GlobusPallidus3.15
Heart5.6
Hypothalamus4.5
Kidney3.35
Leukemia_chronicMyelogenousK-5623.7
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)3.35
Liver7.8
Lung4.5
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.25
Lymphoma_burkitts(Raji)5.85
MedullaOblongata3.95
OccipitalLobe3.7
OlfactoryBulb3.25
Ovary2.85
Pancreas3.3
PancreaticIslet4.45
ParietalLobe4.4
Pituitary4.85
Placenta4.3
Pons4.45
PrefrontalCortex5.2
Prostate4.9
Salivarygland3.4
SkeletalMuscle4.95
Skin3.3
SmoothMuscle4.7
Spinalcord4.4
SubthalamicNucleus3.75
SuperiorCervicalGanglion5.15
TemporalLobe3.8
Testis3.55
TestisGermCell3.45
TestisIntersitial3.45
TestisLeydigCell4.15
TestisSeminiferousTubule3.55
Thalamus4.25
Thymus3.25
Thyroid5.25
Tongue4.25
Tonsil4.1
Trachea3.45
TrigeminalGanglion4.1
Uterus3.35
UterusCorpus3.85
WholeBlood4.55
Wholebrain3.5
colon4.15
pineal_day5.16
pineal_night5.02
retina5
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1526_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
Amygdala7.15 ± 0.43
Basal Forebrain6.92 ± 0.12
Basal Part of Pons6.88 ± 0.3
Cerebellar Cortex6.87 ± 0.3
Cerebellar Nuclei6.95 ± 0.37
Claustrum7.64 ± 0.32
Epithalamus6.77 ± 0.42
Frontal Lobe6.92 ± 0.31
Globus Pallidus7.28 ± 0.42
Hypothalamus6.86 ± 0.35
Insula6.84 ± 0.4
Limbic Lobe6.95 ± 0.29
Mesencephalon6.96 ± 0.27
Myelencephalon6.91 ± 0.32
Occipital Lobe7.04 ± 0.35
Parietal Lobe6.99 ± 0.37
Pontine Tegmentum7.02 ± 0.28
Striatum6.71 ± 0.3
Subthalamus6.64 ± 0.28
Temporal Lobe6.94 ± 0.29
Thalamus6.96 ± 0.3
White Matter7.33 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rab30CBCerebellum6.6
8.47
Rab30CTXCerebral cortex9.45
7.11
Rab30HIPHippocampal region20.79
22.31
Rab30HPFHippocampal formation21.42
20.73
Rab30HYHypothalamus10.21
8.62
Rab30LSXLateral septal complex5.3
4.57
Rab30MBMidbrain9.05
10.11
Rab30MYMedulla10.17
14.96
Rab30OLFOlfactory bulb19.98
16.6
Rab30PPons23.63
31.56
Rab30PALPallidum10.01
9.16
Rab30RHPRetrohippocampal region23.81
19.21
Rab30sAMYStriatum-like amygdalar nuclei6.07
4.36
Rab30STRStriatum14.32
10.14
Rab30STRdStriatum dorsal region13.6
8.98
Rab30STRvStriatum ventral region25.78
17.99
Rab30THThalamus13.5
11.05
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00033677 15 155 169 ESDNVEKLFLDLACR Peptide Atlas
RAB30_HUMAN_115 9 115 123 VITVLVGNK PRIDE
RAB30_HUMAN_162 8 162 169 LFLDLACR PRIDE
RAB30_HUMAN_176 17 176 192 QNTLVNNVSSPLPGEGK PRIDE
RAB30_HUMAN_60 11 60 70 LQIWDTAGQER 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