AutismKB 2.0

Annotation Detail for CLPTM1


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Basic Information Top
Gene Symbol:CLPTM1 ( - )
Gene Full Name: cleft lip and palate associated transmembrane protein 1
Band: 19q13.32
Quick LinksEntrez ID:1209; OMIM: 604783; Uniprot ID:CLPT1_HUMAN; ENSEMBL ID: ENSG00000104853; HGNC ID: 2087
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
blastocyst6 / 6231996
fetus43 / 56401276
neonate0 / 310970 
infant3 / 23620127
juvenile9 / 55556161
adult172 / 193912188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor13 / 94178138
cervical tumor1 / 3436629
chondrosarcoma16 / 82823193
colorectal tumor10 / 11424687
esophageal tumor1 / 1729057
gastrointestinal tumor18 / 119369150
germ cell tumor29 / 263845109
glioma20 / 106883187
head and neck tumor4 / 13630229
kidney tumor9 / 68959130
leukemia9 / 9584293
liver tumor5 / 9635951
lung tumor9 / 10312787
lymphoma12 / 71755167
non-neoplasia4 / 9725041
normal312 / 336030792
ovarian tumor5 / 7668265
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS17 / 125680135
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor24 / 124949192
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites6 / 40015149
bladder2 / 2975767
blood16 / 123478129
bone9 / 71655125
bone marrow6 / 48801122
brain147 / 1100989133
cervix8 / 48171166
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue18 / 21572283
esophagus1 / 2020949
eye16 / 21105475
heart7 / 8962678
intestine27 / 234472115
kidney28 / 211777132
larynx1 / 2414541
liver9 / 20774343
lung29 / 33697486
lymph3 / 4427067
lymph node3 / 9161032
mammary gland15 / 15327197
mouth0 / 670520 
muscle3 / 10771527
nerve3 / 15768190
ovary7 / 10205168
pancreas20 / 21481293
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta20 / 28082571
prostate16 / 18934584
salivary gland0 / 201550 
skin33 / 210574156
spleen7 / 53952129
stomach5 / 9661951
testis28 / 33044284
thymus6 / 8113173
thyroid7 / 47473147
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus16 / 23287868
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211136_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts48.75
Adipocyte87.6
AdrenalCortex13.05
Adrenalgland88.15
Amygdala214.1
Appendix9.75
AtrioventricularNode6.35
BDCA4+_DentriticCells273.65
Bonemarrow12.3
BronchialEpithelialCells19.1
CD105+_Endothelial19.65
CD14+_Monocytes14.65
CD19+_BCells(neg._sel.)62.6
CD33+_Myeloid35.9
CD34+35.7
CD4+_Tcells17.15
CD56+_NKCells76.5
CD71+_EarlyErythroid22.6
CD8+_Tcells10.95
CardiacMyocytes39
Caudatenucleus20.3
Cerebellum49
CerebellumPeduncles14.2
CiliaryGanglion4.4
CingulateCortex42.45
Colorectaladenocarcinoma112.6
DorsalRootGanglion7.1
FetalThyroid19.4
Fetalbrain12
Fetalliver16.8
Fetallung6.15
GlobusPallidus11.4
Heart92.65
Hypothalamus32.95
Kidney71.95
Leukemia_chronicMyelogenousK-5628.95
Leukemia_promyelocytic-HL-607.9
Leukemialymphoblastic(MOLT-4)6.85
Liver161.45
Lung202.5
Lymphnode8.15
Lymphoma_burkitts(Daudi)8.95
Lymphoma_burkitts(Raji)154.85
MedullaOblongata34.15
OccipitalLobe9.4
OlfactoryBulb20.1
Ovary8.25
Pancreas9.2
PancreaticIslet16.05
ParietalLobe22.35
Pituitary18.25
Placenta91.7
Pons17.55
PrefrontalCortex107
Prostate182.8
Salivarygland5
SkeletalMuscle14.4
Skin2.9
SmoothMuscle24.95
Spinalcord21.15
SubthalamicNucleus13.85
SuperiorCervicalGanglion12.05
TemporalLobe25.75
Testis46.7
TestisGermCell37.45
TestisIntersitial16.15
TestisLeydigCell17.6
TestisSeminiferousTubule12.85
Thalamus7.2
Thymus18.55
Thyroid250.2
Tongue11.2
Tonsil13
Trachea13.95
TrigeminalGanglion8.05
Uterus12.85
UterusCorpus16.5
WholeBlood28.35
Wholebrain251.1
colon32.8
pineal_day167.62
pineal_night175.7
retina104.125
small_intestine22.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10906_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
Amygdala5.09 ± 0.35
Basal Forebrain5.08 ± 0.46
Basal Part of Pons5.35 ± 0.27
Cerebellar Cortex4.85 ± 0.43
Cerebellar Nuclei5.13 ± 0.49
Claustrum4.79 ± 0.44
Epithalamus4.56 ± 0.3
Frontal Lobe5.17 ± 0.42
Globus Pallidus4.63 ± 0.35
Hypothalamus4.78 ± 0.56
Insula4.97 ± 0.31
Limbic Lobe5.07 ± 0.39
Mesencephalon5.02 ± 0.45
Myelencephalon5.01 ± 0.47
Occipital Lobe4.8 ± 0.34
Parietal Lobe5.07 ± 0.41
Pontine Tegmentum5.07 ± 0.43
Striatum5.47 ± 0.37
Subthalamus5.14 ± 0.3
Temporal Lobe5.09 ± 0.38
Thalamus5.18 ± 0.47
White Matter4.68 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Clptm1CBCerebellum40.51
89.22
Clptm1CTXCerebral cortex100
100
Clptm1HIPHippocampal region100
100
Clptm1HPFHippocampal formation100
100
Clptm1HYHypothalamus86.49
87.81
Clptm1LSXLateral septal complex100
100
Clptm1MBMidbrain82.47
84.53
Clptm1MYMedulla88.73
100
Clptm1OLFOlfactory bulb100
100
Clptm1PPons83.95
93.49
Clptm1PALPallidum97.22
100
Clptm1RHPRetrohippocampal region100
100
Clptm1sAMYStriatum-like amygdalar nuclei100
100
Clptm1STRStriatum100
100
Clptm1STRdStriatum dorsal region100
100
Clptm1STRvStriatum ventral region100
100
Clptm1THThalamus86.76
91.31
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CLPT1_HUMAN_2 10 2 11 AAAQEADGAR PRIDE
PAp00001968 32 635 666 EEASTSLPTKPTQGASSASEPQEAPPKPAEDK 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