AutismKB 2.0

Annotation Detail for RPN1


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Basic Information Top
Gene Symbol:RPN1 ( DKFZp686B16177,OST1,RBPH1 )
Gene Full Name: ribophorin I
Band: 3q21.3
Quick LinksEntrez ID:6184; OMIM: 180470; Uniprot ID:RPN1_HUMAN; ENSEMBL ID: ENSG00000163902; HGNC ID: 10381
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 body26 / 70761367
blastocyst6 / 6231996
fetus81 / 564012143
neonate27 / 31097868
infant4 / 23620169
juvenile53 / 55556953
adult416 / 1939121214
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma2 / 17475114
breast (mammary gland) tumor35 / 94178371
cervical tumor16 / 34366465
chondrosarcoma11 / 82823132
colorectal tumor20 / 114246175
esophageal tumor31 / 172901792
gastrointestinal tumor39 / 119369326
germ cell tumor104 / 263845394
glioma30 / 106883280
head and neck tumor30 / 136302220
kidney tumor16 / 68959232
leukemia27 / 95842281
liver tumor35 / 96359363
lung tumor15 / 103127145
lymphoma14 / 71755195
non-neoplasia21 / 97250215
normal818 / 3360307243
ovarian tumor26 / 76682339
pancreatic tumor30 / 104616286
primitive neuroectodermal tumor of the CNS48 / 125680381
prostate cancer32 / 102680311
retinoblastoma15 / 46356323
skin tumor18 / 124949144
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor21 / 90257232
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland10 / 33197301
ascites15 / 40015374
bladder11 / 29757369
blood32 / 123478259
bone8 / 71655111
bone marrow13 / 48801266
brain253 / 1100989229
cervix24 / 48171498
connective tissue39 / 149255261
ear2 / 16212123
embryonic tissue48 / 215722222
esophagus33 / 202091632
eye32 / 211054151
heart18 / 89626200
intestine65 / 234472277
kidney73 / 211777344
larynx5 / 24145207
liver42 / 207743202
lung51 / 336974151
lymph6 / 44270135
lymph node6 / 9161065
mammary gland46 / 153271300
mouth18 / 67052268
muscle54 / 107715501
nerve2 / 15768126
ovary28 / 102051274
pancreas32 / 214812148
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland5 / 16585301
placenta87 / 280825309
prostate61 / 189345322
salivary gland2 / 2015599
skin53 / 210574251
spleen30 / 53952556
stomach22 / 96619227
testis101 / 330442305
thymus25 / 81131308
thyroid25 / 47473526
tonsil0 / 169990 
trachea20 / 52413381
umbilical cord6 / 13680438
uterus52 / 232878223
vascular61 / 517801178
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201011_at
Cell line Expression level Expression bar
721_B_lymphoblasts358.6
Adipocyte184.25
AdrenalCortex50.85
Adrenalgland122.85
Amygdala67.9
Appendix19.55
AtrioventricularNode18.5
BDCA4+_DentriticCells850
Bonemarrow134.25
BronchialEpithelialCells463.2
CD105+_Endothelial134.75
CD14+_Monocytes245.5
CD19+_BCells(neg._sel.)184
CD33+_Myeloid294.5
CD34+248.95
CD4+_Tcells163
CD56+_NKCells273.9
CD71+_EarlyErythroid131.65
CD8+_Tcells124.75
CardiacMyocytes199.9
Caudatenucleus51.55
Cerebellum62.25
CerebellumPeduncles69
CiliaryGanglion11.95
CingulateCortex38.1
Colorectaladenocarcinoma339.05
DorsalRootGanglion19.8
FetalThyroid111.65
Fetalbrain51
Fetalliver100.2
Fetallung163.9
GlobusPallidus14.55
Heart173.15
Hypothalamus95.3
Kidney120.6
Leukemia_chronicMyelogenousK-562175.85
Leukemia_promyelocytic-HL-60136.6
Leukemialymphoblastic(MOLT-4)112.5
Liver687.8
Lung703.1
Lymphnode138.5
Lymphoma_burkitts(Daudi)199.55
Lymphoma_burkitts(Raji)88.6
MedullaOblongata53.8
OccipitalLobe29.9
OlfactoryBulb92.5
Ovary63.65
Pancreas225.5
PancreaticIslet288.1
ParietalLobe20.4
Pituitary163.3
Placenta244.65
Pons48.75
PrefrontalCortex86.45
Prostate706.25
Salivarygland76.75
SkeletalMuscle23.3
Skin14.2
SmoothMuscle248.5
Spinalcord114.65
SubthalamicNucleus28.5
SuperiorCervicalGanglion17.55
TemporalLobe31.65
Testis203.85
TestisGermCell152.6
TestisIntersitial102.1
TestisLeydigCell122.55
TestisSeminiferousTubule60.9
Thalamus109.9
Thymus241.2
Thyroid367.45
Tongue20.4
Tonsil77.7
Trachea206
TrigeminalGanglion29.45
Uterus265.25
UterusCorpus39.55
WholeBlood324.05
Wholebrain173.7
colon251.75
pineal_day136.98
pineal_night140.38
retina244.75
small_intestine401.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P63262
  • 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
Amygdala6.29 ± 0.44
Basal Forebrain6.6 ± 0.25
Basal Part of Pons6.87 ± 0.49
Cerebellar Cortex6.58 ± 0.34
Cerebellar Nuclei6.83 ± 0.36
Claustrum6.34 ± 0.59
Epithalamus6.98 ± 0.36
Frontal Lobe6.7 ± 0.35
Globus Pallidus7.13 ± 0.3
Hypothalamus7.08 ± 0.4
Insula6.57 ± 0.34
Limbic Lobe6.51 ± 0.4
Mesencephalon6.64 ± 0.32
Myelencephalon6.68 ± 0.4
Occipital Lobe6.46 ± 0.4
Parietal Lobe6.68 ± 0.37
Pontine Tegmentum6.68 ± 0.34
Striatum6.49 ± 0.34
Subthalamus6.48 ± 0.47
Temporal Lobe6.74 ± 0.33
Thalamus6.82 ± 0.28
White Matter7.85 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rpn1CBCerebellum36.56
90.09
Rpn1CTXCerebral cortex99.61
98.4
Rpn1HIPHippocampal region97.55
100
Rpn1HPFHippocampal formation100
100
Rpn1HYHypothalamus97.97
100
Rpn1LSXLateral septal complex85.17
84.5
Rpn1MBMidbrain76.85
78.73
Rpn1MYMedulla86.46
99.17
Rpn1OLFOlfactory bulb98.73
100
Rpn1PPons80.71
89.16
Rpn1PALPallidum86.47
92.83
Rpn1RHPRetrohippocampal region100
100
Rpn1sAMYStriatum-like amygdalar nuclei100
100
Rpn1STRStriatum77.84
71.55
Rpn1STRdStriatum dorsal region68.07
52.94
Rpn1STRvStriatum ventral region90.97
86.73
Rpn1THThalamus85.24
86.28
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000620 22 392 413 APDELHYTYLDTFGRPVIVAYK Peptide Atlas
RPN1_HUMAN_111 15 111 125 FFTVKLPVALDPGAK PRIDE
RPN1_HUMAN_126 25 126 150 ISVIVETVYTHVLHPYPTQITQSEK PRIDE
RPN1_HUMAN_193 11 193 203 SEDLLDYGPFR PRIDE
RPN1_HUMAN_194 11 194 204 SEDLLDYGPFR PRIDE
RPN1_HUMAN_215 17 215 231 VHYENNSPFLTITSMTR PRIDE
RPN1_HUMAN_216 17 216 232 VHYENNSPFLTITSMTR PRIDE
RPN1_HUMAN_25 14 25 38 SSEAPPLINEDVKR PRIDE
RPN1_HUMAN_269 10 269 278 QPDSGISSIR PRIDE
RPN1_HUMAN_354 17 354 370 FVDHVFDEQVIDSLTVK PRIDE
RPN1_HUMAN_379 12 379 390 NIEIDSPYEISR PRIDE
RPN1_HUMAN_38 10 38 47 TVDLSSHLAK PRIDE
RPN1_HUMAN_414 18 414 431 NLVEQHIQDIVVHYTFNK PRIDE
RPN1_HUMAN_474 15 474 488 VACITEQVLTLVNKR PRIDE
RPN1_HUMAN_48 17 48 64 VTAEVVLAHLGGGSTSR PRIDE
RPN1_HUMAN_49 17 49 65 VTAEVVLAHLGGGSTSR PRIDE
RPN1_HUMAN_524 12 524 535 ALTSEIALLQSR PRIDE
RPN1_HUMAN_525 12 525 536 ALTSEIALLQSR PRIDE
RPN1_HUMAN_594 14 594 607 QELVTKIDHILDAL PRIDE
RPN1_HUMAN_65 15 65 79 ATSFLLALEPELEAR PRIDE
RPN1_HUMAN_66 15 66 80 ATSFLLALEPELEAR 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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