AutismKB 2.0

Annotation Detail for CLN8


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Basic Information Top
Gene Symbol:CLN8 ( C8orf61,EPMR,FLJ39417 )
Gene Full Name: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Band: 8p23.3
Quick LinksEntrez ID:2055; OMIM: 607837; Uniprot ID:CLN8_HUMAN; ENSEMBL ID: ENSG00000182372; HGNC ID: 2079
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 body5 / 7076170
blastocyst2 / 6231932
fetus19 / 56401233
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult60 / 193912130
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 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor14 / 26384553
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia4 / 9725041
normal137 / 336030740
ovarian tumor9 / 76682117
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone5 / 7165569
bone marrow0 / 488010 
brain59 / 110098953
cervix2 / 4817141
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye1 / 2110544
heart3 / 8962633
intestine6 / 23447225
kidney9 / 21177742
larynx1 / 2414541
liver4 / 20774319
lung5 / 33697414
lymph0 / 442700 
lymph node3 / 9161032
mammary gland0 / 1532710 
mouth5 / 6705274
muscle2 / 10771518
nerve0 / 157680 
ovary10 / 10205197
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta15 / 28082553
prostate5 / 18934526
salivary gland0 / 201550 
skin2 / 2105749
spleen8 / 53952148
stomach2 / 9661920
testis9 / 33044227
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord1 / 1368073
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219341_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.4
Adipocyte4.45
AdrenalCortex4.85
Adrenalgland3.8
Amygdala4.75
Appendix4.55
AtrioventricularNode3.4
BDCA4+_DentriticCells17.05
Bonemarrow4.55
BronchialEpithelialCells4.4
CD105+_Endothelial4.55
CD14+_Monocytes4.85
CD19+_BCells(neg._sel.)4.7
CD33+_Myeloid5.85
CD34+5.85
CD4+_Tcells4.8
CD56+_NKCells5.5
CD71+_EarlyErythroid4.3
CD8+_Tcells4.4
CardiacMyocytes5.9
Caudatenucleus4.1
Cerebellum3.65
CerebellumPeduncles5.15
CiliaryGanglion3.35
CingulateCortex4.6
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.5
FetalThyroid4.4
Fetalbrain4.35
Fetalliver3.95
Fetallung3.65
GlobusPallidus3.3
Heart5.85
Hypothalamus4.9
Kidney3.65
Leukemia_chronicMyelogenousK-5624.05
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.55
Liver6.15
Lung5
Lymphnode3.8
Lymphoma_burkitts(Daudi)5.85
Lymphoma_burkitts(Raji)6.35
MedullaOblongata4.1
OccipitalLobe4.05
OlfactoryBulb3.55
Ovary2.95
Pancreas3.65
PancreaticIslet4.8
ParietalLobe4.9
Pituitary5.2
Placenta4.5
Pons4.35
PrefrontalCortex5.5
Prostate5.3
Salivarygland3.6
SkeletalMuscle5.75
Skin3.45
SmoothMuscle5.1
Spinalcord4.8
SubthalamicNucleus4.15
SuperiorCervicalGanglion5.15
TemporalLobe4.1
Testis3.8
TestisGermCell3.7
TestisIntersitial3.75
TestisLeydigCell4.45
TestisSeminiferousTubule3.85
Thalamus4.65
Thymus3.55
Thyroid5.7
Tongue4.45
Tonsil4.35
Trachea3.75
TrigeminalGanglion4.7
Uterus3.65
UterusCorpus4
WholeBlood4.85
Wholebrain3.85
colon4.55
pineal_day6.02
pineal_night8.68
retina5.525
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P407206
  • 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
Amygdala3.79 ± 0.65
Basal Forebrain3.57 ± 0.54
Basal Part of Pons3.77 ± 0.39
Cerebellar Cortex3.42 ± 0.45
Cerebellar Nuclei3.96 ± 0.54
Claustrum4.26 ± 0.65
Epithalamus3.07 ± 0.64
Frontal Lobe3.75 ± 0.69
Globus Pallidus4.67 ± 0.43
Hypothalamus3.48 ± 0.62
Insula3.82 ± 0.75
Limbic Lobe3.66 ± 0.65
Mesencephalon3.79 ± 0.64
Myelencephalon3.66 ± 0.64
Occipital Lobe3.66 ± 0.55
Parietal Lobe3.64 ± 0.6
Pontine Tegmentum3.72 ± 0.58
Striatum3.78 ± 0.57
Subthalamus3.83 ± 0.54
Temporal Lobe3.56 ± 0.61
Thalamus3.74 ± 0.58
White Matter5.07 ± 0.53
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cln8CBCerebellum4.22
5.02
Cln8CTXCerebral cortex2.83
3.19
Cln8HIPHippocampal region1.76
1.79
Cln8HPFHippocampal formation1.45
1.38
Cln8HYHypothalamus0.19
0.22
Cln8LSXLateral septal complex0
0
Cln8MBMidbrain1.24
1.43
Cln8MYMedulla7.41
8.55
Cln8OLFOlfactory bulb7.07
6.02
Cln8PPons2.01
2.49
Cln8PALPallidum0.17
0.14
Cln8RHPRetrohippocampal region1.04
0.92
Cln8sAMYStriatum-like amygdalar nuclei0.17
0.15
Cln8STRStriatum0.41
0.42
Cln8STRdStriatum dorsal region0.32
0.32
Cln8STRvStriatum ventral region1.02
0.82
Cln8THThalamus0.66
0.66
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01428703 18 254 271 TQQLLNPVDWNFAQPEAK 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