AutismKB 2.0

Annotation Detail for RILPL2


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Basic Information Top
Gene Symbol:RILPL2 ( FLJ30380,FLJ32372,MGC7036 )
Gene Full Name: Rab interacting lysosomal protein-like 2
Band: 12q24.31
Quick LinksEntrez ID:196383; OMIM: NA; Uniprot ID:RIPL2_HUMAN; ENSEMBL ID: ENSG00000150977; HGNC ID: 28787
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 body3 / 7076142
blastocyst1 / 6231916
fetus5 / 5640128
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult32 / 193912116
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal60 / 336030717
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood4 / 12347832
bone2 / 7165527
bone marrow2 / 4880140
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye3 / 21105414
heart0 / 896260 
intestine5 / 23447221
kidney7 / 21177733
larynx0 / 241450 
liver3 / 20774314
lung18 / 33697453
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland2 / 2015599
skin7 / 21057433
spleen5 / 5395292
stomach2 / 9661920
testis0 / 3304420 
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2047_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
Amygdala5.74 ± 0.4
Basal Forebrain4.99 ± 0.23
Basal Part of Pons4.66 ± 0.38
Cerebellar Cortex4.69 ± 0.37
Cerebellar Nuclei4.98 ± 0.49
Claustrum5.7 ± 0.59
Epithalamus5.85 ± 0.43
Frontal Lobe5.3 ± 0.53
Globus Pallidus5.32 ± 0.48
Hypothalamus5.35 ± 0.45
Insula5.61 ± 0.28
Limbic Lobe5.56 ± 0.41
Mesencephalon5.21 ± 0.57
Myelencephalon5.27 ± 0.59
Occipital Lobe4.79 ± 0.39
Parietal Lobe5.08 ± 0.53
Pontine Tegmentum5.3 ± 0.52
Striatum5.17 ± 0.6
Subthalamus4.97 ± 1.02
Temporal Lobe5.51 ± 0.43
Thalamus4.81 ± 0.49
White Matter4.53 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC003324CBCerebellum0.77
0.97
BC003324CTXCerebral cortex7.01
4.82
BC003324HIPHippocampal region7.93
6.78
BC003324HPFHippocampal formation6.24
5.01
BC003324HYHypothalamus0.06
0.08
BC003324LSXLateral septal complex1.08
0.8
BC003324MBMidbrain0.4
0.49
BC003324MYMedulla0.53
0.71
BC003324OLFOlfactory bulb5.92
4.38
BC003324PPons0.25
0.35
BC003324PALPallidum0.14
0.19
BC003324RHPRetrohippocampal region3.27
2.45
BC003324sAMYStriatum-like amygdalar nuclei0.48
0.39
BC003324STRStriatum0.63
0.42
BC003324STRdStriatum dorsal region0.48
0.31
BC003324STRvStriatum ventral region0.61
0.38
BC003324THThalamus0.34
0.34
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