AutismKB 2.0

Annotation Detail for LRRC16A


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Basic Information Top
Gene Symbol:LRRC16A ( CARMIL,CARMIL1,CARMIL1a,FLJ20048,FLJ43708,LRRC16,dJ501N12.1,dJ501N12.5 )
Gene Full Name: leucine rich repeat containing 16A
Band: 6p22.2
Quick LinksEntrez ID:55604; OMIM: 609593; Uniprot ID:LR16A_HUMAN; ENSEMBL ID: ENSG00000079691; 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 
blastocyst1 / 6231916
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult67 / 193912134
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor16 / 114246140
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal72 / 336030721
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
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 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus1 / 2020949
eye4 / 21105418
heart0 / 896260 
intestine18 / 23447276
kidney10 / 21177747
larynx0 / 241450 
liver7 / 20774333
lung20 / 33697459
lymph0 / 442700 
lymph node2 / 9161021
mammary gland5 / 15327132
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid4 / 20539194
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta4 / 28082514
prostate4 / 18934521
salivary gland0 / 201550 
skin1 / 2105744
spleen3 / 5395255
stomach0 / 966190 
testis7 / 33044221
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219573_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.85
Adipocyte5.5
AdrenalCortex5.7
Adrenalgland4.65
Amygdala5.65
Appendix5.55
AtrioventricularNode6.5
BDCA4+_DentriticCells5.4
Bonemarrow5.5
BronchialEpithelialCells6.1
CD105+_Endothelial5.25
CD14+_Monocytes5.5
CD19+_BCells(neg._sel.)5.4
CD33+_Myeloid6.45
CD34+6.85
CD4+_Tcells5.45
CD56+_NKCells5.95
CD71+_EarlyErythroid5
CD8+_Tcells4.9
CardiacMyocytes6.65
Caudatenucleus6.7
Cerebellum7
CerebellumPeduncles6.2
CiliaryGanglion3.95
CingulateCortex6.3
Colorectaladenocarcinoma5.2
DorsalRootGanglion4.2
FetalThyroid5.4
Fetalbrain5.7
Fetalliver4.55
Fetallung4.45
GlobusPallidus3.95
Heart7.15
Hypothalamus6.1
Kidney4.85
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.55
Leukemialymphoblastic(MOLT-4)4.15
Liver6.5
Lung7.55
Lymphnode4.95
Lymphoma_burkitts(Daudi)7.05
Lymphoma_burkitts(Raji)7.05
MedullaOblongata5.1
OccipitalLobe8.95
OlfactoryBulb4.1
Ovary3.85
Pancreas5.1
PancreaticIslet5.65
ParietalLobe5.7
Pituitary6.35
Placenta5.55
Pons6.3
PrefrontalCortex7
Prostate5.9
Salivarygland5.85
SkeletalMuscle6.6
Skin4.3
SmoothMuscle7.85
Spinalcord5.9
SubthalamicNucleus4.9
SuperiorCervicalGanglion6.15
TemporalLobe5
Testis4.65
TestisGermCell54.35
TestisIntersitial5.6
TestisLeydigCell5.45
TestisSeminiferousTubule22.45
Thalamus5.55
Thymus4.2
Thyroid7
Tongue5.35
Tonsil5.3
Trachea9.9
TrigeminalGanglion5.45
Uterus4.2
UterusCorpus4.85
WholeBlood5.9
Wholebrain4.75
colon10.35
pineal_day6.72
pineal_night7.04
retina6.9
small_intestine30
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P19369
  • 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
Amygdala2.96 ± 0.86
Basal Forebrain2.68 ± 0.37
Basal Part of Pons2.28 ± 0.36
Cerebellar Cortex2.88 ± 0.64
Cerebellar Nuclei2.73 ± 0.72
Claustrum2.9 ± 0.6
Epithalamus2.71 ± 0.64
Frontal Lobe2.75 ± 0.6
Globus Pallidus2.72 ± 0.7
Hypothalamus2.59 ± 0.56
Insula2.75 ± 0.71
Limbic Lobe2.58 ± 0.73
Mesencephalon2.76 ± 0.69
Myelencephalon2.75 ± 0.64
Occipital Lobe2.58 ± 0.65
Parietal Lobe2.67 ± 0.66
Pontine Tegmentum2.84 ± 0.7
Striatum2.88 ± 0.59
Subthalamus2.73 ± 0.74
Temporal Lobe2.62 ± 0.69
Thalamus2.81 ± 0.57
White Matter1.77 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Lrrc16CBCerebellum7.67
9.18
Lrrc16CTXCerebral cortex8.24
6.27
Lrrc16HIPHippocampal region11.26
22.8
Lrrc16HPFHippocampal formation8.09
14.66
Lrrc16HYHypothalamus1.01
0.79
Lrrc16LSXLateral septal complex1.12
1.06
Lrrc16MBMidbrain2.15
2.23
Lrrc16MYMedulla3.43
4.55
Lrrc16OLFOlfactory bulb22.52
18.76
Lrrc16PPons3.13
3.51
Lrrc16PALPallidum4.83
3.94
Lrrc16RHPRetrohippocampal region1.35
1.12
Lrrc16sAMYStriatum-like amygdalar nuclei2.49
1.68
Lrrc16STRStriatum3.18
2.79
Lrrc16STRdStriatum dorsal region2.9
2.85
Lrrc16STRvStriatum ventral region5.45
3.91
Lrrc16THThalamus6.32
9.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00433323 20 436 455 LSPEPLKALLLGLACNHNLK 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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