AutismKB 2.0

Annotation Detail for RLTPR


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Basic Information Top
Gene Symbol:RLTPR ( CARMIL2,CARMIL2b,LRRC16C )
Gene Full Name: RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing
Band: 16q22.1
Quick LinksEntrez ID:146206; OMIM: 610859; Uniprot ID:LR16C_HUMAN; ENSEMBL ID: ENSG00000159753; HGNC ID:
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 
blastocyst3 / 6231948
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult19 / 19391219
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 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia20 / 95842208
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal51 / 336030715
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone0 / 716550 
bone marrow0 / 488010 
brain15 / 110098913
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine5 / 23447221
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung9 / 33697426
lymph1 / 4427022
lymph node12 / 91610130
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus3 / 8113136
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
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_908_PI416573500
  • 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
Amygdala5.41 ± 0.58
Basal Forebrain4.92 ± 0.23
Basal Part of Pons5.93 ± 0.31
Cerebellar Cortex5.64 ± 0.41
Cerebellar Nuclei4.67 ± 0.55
Claustrum5.51 ± 0.66
Epithalamus4.25 ± 0.7
Frontal Lobe5.38 ± 0.55
Globus Pallidus3.69 ± 0.68
Hypothalamus4.83 ± 0.48
Insula5.23 ± 0.5
Limbic Lobe5.8 ± 0.6
Mesencephalon5 ± 0.53
Myelencephalon5.26 ± 0.67
Occipital Lobe5.2 ± 0.44
Parietal Lobe5.35 ± 0.52
Pontine Tegmentum5.11 ± 0.55
Striatum4.81 ± 0.51
Subthalamus5 ± 0.31
Temporal Lobe5.49 ± 0.48
Thalamus5.05 ± 0.46
White Matter3.01 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D130029J02RikCBCerebellum32.37
40.05
D130029J02RikCTXCerebral cortex45.06
41.35
D130029J02RikHIPHippocampal region32.69
51.32
D130029J02RikHPFHippocampal formation29.96
39.06
D130029J02RikHYHypothalamus13.09
13.04
D130029J02RikLSXLateral septal complex3.16
3.8
D130029J02RikMBMidbrain20.92
23.61
D130029J02RikMYMedulla32.13
44.9
D130029J02RikOLFOlfactory bulb22.21
20.01
D130029J02RikPPons25.51
37.39
D130029J02RikPALPallidum9.88
11.56
D130029J02RikRHPRetrohippocampal region25.86
23.94
D130029J02RiksAMYStriatum-like amygdalar nuclei9.46
8.38
D130029J02RikSTRStriatum7.7
6.89
D130029J02RikSTRdStriatum dorsal region6.33
5.69
D130029J02RikSTRvStriatum ventral region13.03
10.75
D130029J02RikTHThalamus18.07
21.54
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