AutismKB 2.0

Annotation Detail for LRPPRC


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Basic Information Top
Gene Symbol:LRPPRC ( CLONE-23970,GP130,LRP130,LSFC )
Gene Full Name: leucine-rich PPR-motif containing
Band: 2p21
Quick LinksEntrez ID:10128; OMIM: 607544; Uniprot ID:LPPRC_HUMAN; ENSEMBL ID: ENSG00000138095; HGNC ID: 15714
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 body11 / 70761155
blastocyst12 / 62319192
fetus70 / 564012124
neonate2 / 3109764
infant2 / 2362084
juvenile18 / 55556323
adult289 / 1939121149
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor18 / 94178191
cervical tumor5 / 34366145
chondrosarcoma15 / 82823181
colorectal tumor26 / 114246227
esophageal tumor3 / 17290173
gastrointestinal tumor38 / 119369318
germ cell tumor93 / 263845352
glioma11 / 106883102
head and neck tumor30 / 136302220
kidney tumor1 / 6895914
leukemia13 / 95842135
liver tumor27 / 96359280
lung tumor7 / 10312767
lymphoma5 / 7175569
non-neoplasia10 / 97250102
normal436 / 3360307129
ovarian tumor7 / 7668291
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer16 / 102680155
retinoblastoma17 / 46356366
skin tumor18 / 124949144
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites16 / 40015399
bladder4 / 29757134
blood8 / 12347864
bone13 / 71655181
bone marrow7 / 48801143
brain175 / 1100989158
cervix5 / 48171103
connective tissue15 / 149255100
ear2 / 16212123
embryonic tissue34 / 215722157
esophagus3 / 20209148
eye28 / 211054132
heart8 / 8962689
intestine39 / 234472166
kidney15 / 21177770
larynx3 / 24145124
liver39 / 207743187
lung24 / 33697471
lymph3 / 4427067
lymph node19 / 91610207
mammary gland22 / 153271143
mouth17 / 67052253
muscle10 / 10771592
nerve3 / 15768190
ovary10 / 10205197
pancreas8 / 21481237
parathyroid5 / 20539243
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta32 / 280825113
prostate31 / 189345163
salivary gland0 / 201550 
skin23 / 210574109
spleen3 / 5395255
stomach20 / 96619206
testis113 / 330442341
thymus10 / 81131123
thyroid12 / 47473252
tonsil0 / 169990 
trachea29 / 52413553
umbilical cord1 / 1368073
uterus36 / 232878154
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211971_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts794.15
Adipocyte106.4
AdrenalCortex60.35
Adrenalgland47.45
Amygdala109.75
Appendix24.95
AtrioventricularNode9.95
BDCA4+_DentriticCells193.65
Bonemarrow11.45
BronchialEpithelialCells241.95
CD105+_Endothelial478.85
CD14+_Monocytes144.4
CD19+_BCells(neg._sel.)269.8
CD33+_Myeloid133.8
CD34+544.5
CD4+_Tcells206.85
CD56+_NKCells152.6
CD71+_EarlyErythroid71.8
CD8+_Tcells212.65
CardiacMyocytes50.75
Caudatenucleus50.1
Cerebellum25.2
CerebellumPeduncles37.15
CiliaryGanglion8.85
CingulateCortex53.75
Colorectaladenocarcinoma183.35
DorsalRootGanglion30.1
FetalThyroid58.4
Fetalbrain70.1
Fetalliver120
Fetallung104.45
GlobusPallidus26.2
Heart7.05
Hypothalamus131.15
Kidney18.35
Leukemia_chronicMyelogenousK-562415.9
Leukemia_promyelocytic-HL-60612.05
Leukemialymphoblastic(MOLT-4)249.1
Liver10.45
Lung9.25
Lymphnode85.25
Lymphoma_burkitts(Daudi)495.3
Lymphoma_burkitts(Raji)279.1
MedullaOblongata45.3
OccipitalLobe115.4
OlfactoryBulb29.4
Ovary49
Pancreas112.8
PancreaticIslet99.7
ParietalLobe90.05
Pituitary112.45
Placenta21.65
Pons34.05
PrefrontalCortex84.15
Prostate20.45
Salivarygland132.2
SkeletalMuscle47.4
Skin26.95
SmoothMuscle147.25
Spinalcord52.5
SubthalamicNucleus31.7
SuperiorCervicalGanglion44.5
TemporalLobe31.25
Testis22.3
TestisGermCell202.7
TestisIntersitial84.35
TestisLeydigCell73.8
TestisSeminiferousTubule94
Thalamus105.05
Thymus31.55
Thyroid65.65
Tongue40.8
Tonsil137.9
Trachea45.75
TrigeminalGanglion18.5
Uterus90.15
UterusCorpus21.2
WholeBlood79.95
Wholebrain26.45
colon250
pineal_day151.18
pineal_night178.64
retina60.85
small_intestine106.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P674924
  • 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
Amygdala7.11 ± 0.3
Basal Forebrain7.31 ± 0.09
Basal Part of Pons7.8 ± 0.15
Cerebellar Cortex7.66 ± 0.16
Cerebellar Nuclei7.45 ± 0.33
Claustrum6.88 ± 0.35
Epithalamus7.04 ± 0.38
Frontal Lobe7.42 ± 0.32
Globus Pallidus6.75 ± 0.17
Hypothalamus7.45 ± 0.3
Insula7.39 ± 0.3
Limbic Lobe7.2 ± 0.36
Mesencephalon7.34 ± 0.35
Myelencephalon7.3 ± 0.43
Occipital Lobe7.35 ± 0.4
Parietal Lobe7.46 ± 0.37
Pontine Tegmentum7.24 ± 0.26
Striatum7.06 ± 0.37
Subthalamus7.65 ± 0.09
Temporal Lobe7.37 ± 0.35
Thalamus7.52 ± 0.3
White Matter6.85 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
LrpprcCBCerebellum40.64
65.58
LrpprcCTXCerebral cortex89.6
82.73
LrpprcHIPHippocampal region83.04
100
LrpprcHPFHippocampal formation88.6
100
LrpprcHYHypothalamus59.61
57.12
LrpprcLSXLateral septal complex62.17
53.32
LrpprcMBMidbrain73.53
80.01
LrpprcMYMedulla74.72
100
LrpprcOLFOlfactory bulb54.15
50.49
LrpprcPPons68.11
86.42
LrpprcPALPallidum65.79
74.2
LrpprcRHPRetrohippocampal region100
100
LrpprcsAMYStriatum-like amygdalar nuclei74.86
64.79
LrpprcSTRStriatum59.1
48.87
LrpprcSTRdStriatum dorsal region57.06
46.92
LrpprcSTRvStriatum ventral region57.03
45.35
LrpprcTHThalamus81.38
85.27
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
LPPRC_HUMAN_0 0 0 0 EEGFPIRPHYFWPLLVGR PRIDE
LPPRC_HUMAN_0 0 0 0 IQEENVIPR PRIDE
LPPRC_HUMAN_0 0 0 0 NVQGIIEILK PRIDE
LPPRC_HUMAN_0 0 0 0 SYVSEKDVTSAK PRIDE
LPPRC_HUMAN_0 0 0 0 TVLDQQQTPSR PRIDE
LPPRC_HUMAN_1007 11 1007 1017 TVLDQQQTPSR PRIDE
LPPRC_HUMAN_1023 19 1023 1041 VIQALAMKGDVENIEVVQK PRIDE
LPPRC_HUMAN_103 20 103 122 TKDLPVTEAVFSALVTGHAR PRIDE
LPPRC_HUMAN_105 18 105 122 DLPVTEAVFSALVTGHAR PRIDE
LPPRC_HUMAN_1055 13 1055 1067 MVFINNIALAQIK PRIDE
LPPRC_HUMAN_1056 13 1056 1068 MVFINNIALAQIK PRIDE
LPPRC_HUMAN_1088 14 1088 1101 VIEPQYFGLAYLFR PRIDE
LPPRC_HUMAN_1103 12 1103 1114 VIEEQLEPAVEK PRIDE
LPPRC_HUMAN_1122 23 1122 1144 LANQFAIYKPVTDFFLQLVDAGK PRIDE
LPPRC_HUMAN_1122 28 1122 1149 LANQFAIYKPVTDFFLQLVDAGKVDDAR PRIDE
LPPRC_HUMAN_1155 17 1155 1171 CGAIAEQTPILLLFLLR PRIDE
LPPRC_HUMAN_1184 21 1184 1204 SVLELIPELNEKEEAYNSLMK PRIDE
LPPRC_HUMAN_1205 12 1205 1216 SYVSEKDVTSAK PRIDE
LPPRC_HUMAN_1217 9 1217 1225 ALYEHLTAK PRIDE
LPPRC_HUMAN_123 15 123 137 AGDMENAENILTVMR PRIDE
LPPRC_HUMAN_124 15 124 138 AGDMENAENILTVMR PRIDE
LPPRC_HUMAN_1243 23 1243 1265 YAGEPVPFIEPPESFEFYAQQLR PRIDE
LPPRC_HUMAN_138 28 138 165 DAGIEPGPDTYLALLNAYAEKGDIDHVK PRIDE
LPPRC_HUMAN_277 21 277 297 EVQMHSFPLQFTLHCALLANK PRIDE
LPPRC_HUMAN_310 18 310 327 EEGFPIRPHYFWPLLVGR PRIDE
LPPRC_HUMAN_332 10 332 341 NVQGIIEILK PRIDE
LPPRC_HUMAN_34 15 34 48 LGAVYDVSHYNALLK PRIDE
LPPRC_HUMAN_392 16 392 407 SEAANGNLDFVLSFLK PRIDE
LPPRC_HUMAN_408 12 408 419 SNTLPISLQSIR PRIDE
LPPRC_HUMAN_534 28 534 561 TVQLTSSELESTLETLKAENQPIRDVLK PRIDE
LPPRC_HUMAN_57 9 57 65 FSPTDFLAK PRIDE
LPPRC_HUMAN_662 17 662 678 DTTALSFFHMLNGAALR PRIDE
LPPRC_HUMAN_81 16 81 96 LIASYCNVGDIEGASK PRIDE
LPPRC_HUMAN_827 15 827 841 LFECDRDQMYYNLLK PRIDE
LPPRC_HUMAN_859 9 859 867 IQEENVIPR PRIDE
LPPRC_HUMAN_873 7 873 879 LLAEILR PRIDE
LPPRC_HUMAN_938 16 938 953 EQNIVFNAETYSNLIK PRIDE
LPPRC_HUMAN_954 15 954 968 LLMSEDYFTQAMEVK PRIDE
LPPRC_HUMAN_977 11 977 987 GFTLNDAANSR PRIDE
PAp00001435 12 930 941 CVANNQVETLEK 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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