AutismKB 2.0

Annotation Detail for RPGRIP1L


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Basic Information Top
Gene Symbol:RPGRIP1L ( CORS3,DKFZp686C0668,FTM,JBTS7,KIAA1005,MKS5,NPHP8 )
Gene Full Name: RPGRIP1-like
Band: 16q12.2
Quick LinksEntrez ID:23322; OMIM: 610937; Uniprot ID:FTM_HUMAN; ENSEMBL ID: ENSG00000103494; HGNC ID: 29168
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 
blastocyst2 / 6231932
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor11 / 26384541
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal49 / 336030714
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine9 / 23447238
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis27 / 33044281
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213959_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.2
Adipocyte7.05
AdrenalCortex8.95
Adrenalgland6.55
Amygdala7.25
Appendix10.25
AtrioventricularNode7.45
BDCA4+_DentriticCells7.05
Bonemarrow8
BronchialEpithelialCells6.95
CD105+_Endothelial7.1
CD14+_Monocytes7.65
CD19+_BCells(neg._sel.)7.5
CD33+_Myeloid8.6
CD34+8.6
CD4+_Tcells7.2
CD56+_NKCells8.1
CD71+_EarlyErythroid7.05
CD8+_Tcells6.25
CardiacMyocytes12.45
Caudatenucleus6.6
Cerebellum6
CerebellumPeduncles9.05
CiliaryGanglion6.75
CingulateCortex10.35
Colorectaladenocarcinoma7.2
DorsalRootGanglion6.75
FetalThyroid7.2
Fetalbrain7
Fetalliver6.55
Fetallung5.55
GlobusPallidus5.9
Heart12.1
Hypothalamus7.5
Kidney6.7
Leukemia_chronicMyelogenousK-5626.45
Leukemia_promyelocytic-HL-606.45
Leukemialymphoblastic(MOLT-4)5.5
Liver11.05
Lung7.8
Lymphnode6.05
Lymphoma_burkitts(Daudi)9.6
Lymphoma_burkitts(Raji)11.25
MedullaOblongata6.6
OccipitalLobe6.4
OlfactoryBulb5.7
Ovary5.75
Pancreas6.2
PancreaticIslet7.95
ParietalLobe8.3
Pituitary8.5
Placenta7.1
Pons7.25
PrefrontalCortex8.7
Prostate8.25
Salivarygland6.2
SkeletalMuscle11.45
Skin6.9
SmoothMuscle8.2
Spinalcord7.7
SubthalamicNucleus7.2
SuperiorCervicalGanglion17.75
TemporalLobe6.9
Testis6.25
TestisGermCell5.9
TestisIntersitial6.25
TestisLeydigCell12.5
TestisSeminiferousTubule6.3
Thalamus7.65
Thymus5.5
Thyroid8.65
Tongue8.15
Tonsil7.2
Trachea6.05
TrigeminalGanglion9.05
Uterus5.75
UterusCorpus7.45
WholeBlood7.85
Wholebrain5.75
colon7.2
pineal_day8.94
pineal_night8.78
retina8.7
small_intestine6.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P388489
  • 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 ± 0.58
Basal Forebrain6.46 ± 0.45
Basal Part of Pons6.68 ± 0.32
Cerebellar Cortex6.14 ± 0.17
Cerebellar Nuclei5.65 ± 0.62
Claustrum6.37 ± 0.51
Epithalamus7.4 ± 0.89
Frontal Lobe6.55 ± 0.41
Globus Pallidus5.45 ± 0.45
Hypothalamus6.46 ± 0.52
Insula6.63 ± 0.49
Limbic Lobe6.71 ± 0.39
Mesencephalon6.3 ± 0.56
Myelencephalon6.43 ± 0.53
Occipital Lobe6.53 ± 0.47
Parietal Lobe6.54 ± 0.46
Pontine Tegmentum6.41 ± 0.47
Striatum6.64 ± 0.55
Subthalamus6.47 ± 0.26
Temporal Lobe6.63 ± 0.41
Thalamus6.31 ± 0.4
White Matter4.82 ± 0.43
Mouse Brain ISH
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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