AutismKB 2.0

Annotation Detail for CLTCL1


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Basic Information Top
Gene Symbol:CLTCL1 ( CHC22,CLH22,CLTCL,CLTD,FLJ36032 )
Gene Full Name: clathrin, heavy chain-like 1
Band: 22q11.21
Quick LinksEntrez ID:8218; OMIM: 601273; Uniprot ID:CLH2_HUMAN; ENSEMBL ID: ENSG00000070371,ENSG00000249108; HGNC ID: 2093
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 
blastocyst4 / 6231964
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult39 / 193912120
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 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal56 / 336030716
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood4 / 12347832
bone2 / 7165527
bone marrow1 / 4880120
brain10 / 11009899
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye6 / 21105428
heart3 / 8962633
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver3 / 20774314
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth2 / 6705229
muscle3 / 10771527
nerve3 / 15768190
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis36 / 330442108
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205944_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.35
Adipocyte18.5
AdrenalCortex25.6
Adrenalgland20.45
Amygdala18.8
Appendix17.85
AtrioventricularNode21
BDCA4+_DentriticCells15.05
Bonemarrow35.55
BronchialEpithelialCells17.65
CD105+_Endothelial17.95
CD14+_Monocytes18.3
CD19+_BCells(neg._sel.)19.1
CD33+_Myeloid27.8
CD34+22.4
CD4+_Tcells16.1
CD56+_NKCells21.1
CD71+_EarlyErythroid16.75
CD8+_Tcells16.95
CardiacMyocytes22.5
Caudatenucleus16.15
Cerebellum14.6
CerebellumPeduncles30.9
CiliaryGanglion13
CingulateCortex27.45
Colorectaladenocarcinoma17.75
DorsalRootGanglion13.85
FetalThyroid17.4
Fetalbrain17.8
Fetalliver15.65
Fetallung14.65
GlobusPallidus13.4
Heart22.75
Hypothalamus19.55
Kidney22.5
Leukemia_chronicMyelogenousK-56217.75
Leukemia_promyelocytic-HL-6015.75
Leukemialymphoblastic(MOLT-4)14.4
Liver34.55
Lung19.6
Lymphnode15.2
Lymphoma_burkitts(Daudi)27.5
Lymphoma_burkitts(Raji)24.85
MedullaOblongata16.3
OccipitalLobe16.05
OlfactoryBulb14.1
Ovary11.95
Pancreas14.25
PancreaticIslet19.1
ParietalLobe18.75
Pituitary25.55
Placenta14.4
Pons16.9
PrefrontalCortex23.45
Prostate20.85
Salivarygland21.1
SkeletalMuscle27.05
Skin13.55
SmoothMuscle18.05
Spinalcord22.4
SubthalamicNucleus16.65
SuperiorCervicalGanglion19.95
TemporalLobe17.2
Testis142.75
TestisGermCell55.15
TestisIntersitial52.55
TestisLeydigCell34.2
TestisSeminiferousTubule37.25
Thalamus25.9
Thymus13.9
Thyroid25.4
Tongue24.9
Tonsil16.45
Trachea14.95
TrigeminalGanglion17.55
Uterus14.5
UterusCorpus17.5
WholeBlood14.95
Wholebrain15
colon17.85
pineal_day20.76
pineal_night21.7
retina23.3
small_intestine17.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P143559
  • 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
Amygdala3.64 ± 0.69
Basal Forebrain4.44 ± 0.41
Basal Part of Pons4.39 ± 0.39
Cerebellar Cortex4.51 ± 0.35
Cerebellar Nuclei4.41 ± 0.25
Claustrum4.52 ± 0.65
Epithalamus4.6 ± 0.46
Frontal Lobe3.91 ± 0.61
Globus Pallidus4.85 ± 0.63
Hypothalamus4.7 ± 0.4
Insula4.11 ± 0.54
Limbic Lobe3.79 ± 0.72
Mesencephalon4.18 ± 0.58
Myelencephalon4.09 ± 0.59
Occipital Lobe3.67 ± 0.63
Parietal Lobe3.92 ± 0.77
Pontine Tegmentum4.1 ± 0.56
Striatum4.07 ± 0.69
Subthalamus3.69 ± 0.61
Temporal Lobe4 ± 0.65
Thalamus4.55 ± 0.58
White Matter4.48 ± 0.17
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CLH2_HUMAN_0 0 0 0 AFMTADLPNELIELLEK PRIDE
CLH2_HUMAN_0 0 0 0 IVLDNSVFSEHR PRIDE
CLH2_HUMAN_0 0 0 0 NLQNLLILTAIK PRIDE
CLH2_HUMAN_0 0 0 0 NLQNLLILTAIKADR PRIDE
CLH2_HUMAN_0 0 0 0 RDPHLACVAYER PRIDE
CLH2_HUMAN_0 0 0 0 TLQIFNIEMK PRIDE
CLH2_HUMAN_1010 12 1010 1021 IVLDNSVFSEHR PRIDE
CLH2_HUMAN_1022 12 1022 1033 NLQNLLILTAIK PRIDE
CLH2_HUMAN_1022 15 1022 1036 NLQNLLILTAIKADR PRIDE
CLH2_HUMAN_1023 12 1023 1034 NLQNLLILTAIK PRIDE
CLH2_HUMAN_176 12 176 187 VVGAMQLYSVDR PRIDE
CLH2_HUMAN_177 12 177 188 VVGAMQLYSVDR PRIDE
CLH2_HUMAN_450 18 450 467 WLKEDKLECSEELGDLVK PRIDE
CLH2_HUMAN_506 13 506 518 KVGYTPDWIFLLR PRIDE
CLH2_HUMAN_507 12 507 518 VGYTPDWIFLLR PRIDE
CLH2_HUMAN_86 10 86 95 TLQIFNIEMK PRIDE
CLH2_HUMAN_87 10 87 96 TLQIFNIEMK PRIDE
CLH2_HUMAN_911 12 911 922 RDPHLACVAYER PRIDE
CLH2_HUMAN_912 11 912 922 DPHLACVAYER PRIDE
CLH2_HUMAN_993 17 993 1009 AFMTADLPNELIELLEK PRIDE

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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