AutismKB 2.0

Annotation Detail for CLTC


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Basic Information Top
Gene Symbol:CLTC ( CHC,CHC17,CLH-17,CLTCL2,Hc,KIAA0034 )
Gene Full Name: clathrin, heavy chain (Hc)
Band: 17q23.1
Quick LinksEntrez ID:1213; OMIM: 118955; Uniprot ID:CLH1_HUMAN; ENSEMBL ID: ENSG00000141367; HGNC ID: 2092
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 body37 / 70761522
blastocyst34 / 62319545
fetus94 / 564012166
neonate8 / 31097257
infant9 / 23620381
juvenile30 / 55556539
adult457 / 1939121235
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor6 / 12794468
bladder carcinoma6 / 17475343
breast (mammary gland) tumor36 / 94178382
cervical tumor3 / 3436687
chondrosarcoma21 / 82823253
colorectal tumor31 / 114246271
esophageal tumor5 / 17290289
gastrointestinal tumor32 / 119369268
germ cell tumor81 / 263845306
glioma17 / 106883159
head and neck tumor48 / 136302352
kidney tumor20 / 68959290
leukemia10 / 95842104
liver tumor45 / 96359467
lung tumor15 / 103127145
lymphoma3 / 7175541
non-neoplasia16 / 97250164
normal839 / 3360307249
ovarian tumor16 / 76682208
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer16 / 102680155
retinoblastoma7 / 46356151
skin tumor48 / 124949384
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland12 / 33197361
ascites20 / 40015499
bladder11 / 29757369
blood15 / 123478121
bone14 / 71655195
bone marrow7 / 48801143
brain321 / 1100989291
cervix4 / 4817183
connective tissue36 / 149255241
ear4 / 16212246
embryonic tissue92 / 215722426
esophagus5 / 20209247
eye23 / 211054108
heart17 / 89626189
intestine67 / 234472285
kidney46 / 211777217
larynx1 / 2414541
liver59 / 207743284
lung75 / 336974222
lymph1 / 4427022
lymph node31 / 91610338
mammary gland51 / 153271332
mouth29 / 67052432
muscle45 / 107715417
nerve3 / 15768190
ovary17 / 102051166
pancreas25 / 214812116
parathyroid6 / 20539292
pharynx5 / 41328120
pituitary gland4 / 16585241
placenta56 / 280825199
prostate25 / 189345132
salivary gland2 / 2015599
skin65 / 210574308
spleen10 / 53952185
stomach9 / 9661993
testis95 / 330442287
thymus7 / 8113186
thyroid17 / 47473358
tonsil1 / 1699958
trachea19 / 52413362
umbilical cord2 / 13680146
uterus52 / 232878223
vascular21 / 51780405
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200614_at
Cell line Expression level Expression bar
721_B_lymphoblasts2358.8
Adipocyte1039.85
AdrenalCortex521.85
Adrenalgland319
Amygdala2096.95
Appendix285.35
AtrioventricularNode154.75
BDCA4+_DentriticCells1444.25
Bonemarrow207.05
BronchialEpithelialCells1857.45
CD105+_Endothelial2097.3
CD14+_Monocytes959.75
CD19+_BCells(neg._sel.)348.3
CD33+_Myeloid1078.7
CD34+1574.75
CD4+_Tcells773.95
CD56+_NKCells833.15
CD71+_EarlyErythroid2378.85
CD8+_Tcells606.75
CardiacMyocytes900
Caudatenucleus1173.15
Cerebellum613.85
CerebellumPeduncles1139.15
CiliaryGanglion301
CingulateCortex1304.2
Colorectaladenocarcinoma1264.85
DorsalRootGanglion355.7
FetalThyroid1017.95
Fetalbrain1415.6
Fetalliver1185.15
Fetallung890.25
GlobusPallidus908.65
Heart51
Hypothalamus2731.3
Kidney316.45
Leukemia_chronicMyelogenousK-5621119.55
Leukemia_promyelocytic-HL-60727.8
Leukemialymphoblastic(MOLT-4)641.6
Liver122.15
Lung153.45
Lymphnode618.35
Lymphoma_burkitts(Daudi)1168.5
Lymphoma_burkitts(Raji)579.6
MedullaOblongata1672.45
OccipitalLobe2435.3
OlfactoryBulb574.75
Ovary297
Pancreas536.65
PancreaticIslet1009
ParietalLobe1906.2
Pituitary1814.65
Placenta914.85
Pons1098.4
PrefrontalCortex2378.4
Prostate914.2
Salivarygland520.05
SkeletalMuscle40.15
Skin244.7
SmoothMuscle2238.95
Spinalcord1215.1
SubthalamicNucleus1471.55
SuperiorCervicalGanglion186.55
TemporalLobe925.25
Testis180
TestisGermCell1015.75
TestisIntersitial490
TestisLeydigCell489.05
TestisSeminiferousTubule491.2
Thalamus2580.55
Thymus291.4
Thyroid1215.25
Tongue419.95
Tonsil791.25
Trachea409.15
TrigeminalGanglion272.55
Uterus656.85
UterusCorpus467.95
WholeBlood946
Wholebrain1088.5
colon1098.2
pineal_day3268.32
pineal_night3208.28
retina884.95
small_intestine586.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9107_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
Amygdala7.14 ± 0.46
Basal Forebrain7.09 ± 0.31
Basal Part of Pons7.83 ± 0.1
Cerebellar Cortex7.19 ± 0.29
Cerebellar Nuclei7.72 ± 0.31
Claustrum7.54 ± 0.25
Epithalamus7.13 ± 0.33
Frontal Lobe7.47 ± 0.4
Globus Pallidus6.84 ± 0.31
Hypothalamus7.54 ± 0.2
Insula7.35 ± 0.32
Limbic Lobe7.39 ± 0.48
Mesencephalon7.36 ± 0.39
Myelencephalon7.33 ± 0.44
Occipital Lobe7.37 ± 0.47
Parietal Lobe7.44 ± 0.34
Pontine Tegmentum7.36 ± 0.32
Striatum7.24 ± 0.43
Subthalamus7.64 ± 0.41
Temporal Lobe7.45 ± 0.35
Thalamus7.43 ± 0.41
White Matter6.83 ± 0.53
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CltcCBCerebellum48.94
100
CltcCTXCerebral cortex100
100
CltcHIPHippocampal region100
100
CltcHPFHippocampal formation100
100
CltcHYHypothalamus87.14
98.68
CltcLSXLateral septal complex100
100
CltcMBMidbrain100
100
CltcMYMedulla94.49
100
CltcOLFOlfactory bulb100
100
CltcPPons87.12
100
CltcPALPallidum95.72
100
CltcRHPRetrohippocampal region100
100
CltcsAMYStriatum-like amygdalar nuclei100
100
CltcSTRStriatum100
100
CltcSTRdStriatum dorsal region100
100
CltcSTRvStriatum ventral region100
100
CltcTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CLH1_HUMAN_0 0 0 0 AFMTADLPNELIELLEK PRIDE
CLH1_HUMAN_0 0 0 0 AHIAQLCEK PRIDE
CLH1_HUMAN_0 0 0 0 ALEHFTDLYDIKR PRIDE
CLH1_HUMAN_0 0 0 0 AVNYFSK PRIDE
CLH1_HUMAN_0 0 0 0 DAMQYASESK PRIDE
CLH1_HUMAN_0 0 0 0 EAIDSYIK PRIDE
CLH1_HUMAN_0 0 0 0 EVCFACVDGK PRIDE
CLH1_HUMAN_0 0 0 0 GQFSTDELVAEVEKR PRIDE
CLH1_HUMAN_0 0 0 0 HDVVFLITK PRIDE
CLH1_HUMAN_0 0 0 0 HNIMDFAMPYFIQVMK PRIDE
CLH1_HUMAN_0 0 0 0 HSSLAGCQIINYR PRIDE
CLH1_HUMAN_0 0 0 0 IHEGCEEPATHNALAK PRIDE
CLH1_HUMAN_0 0 0 0 ISGETIFVTAPHEATAGIIGVNR PRIDE
CLH1_HUMAN_0 0 0 0 ISGETIFVTAPHEATAGIIGVNRK PRIDE
CLH1_HUMAN_0 0 0 0 IVLDNSVFSEHR PRIDE
CLH1_HUMAN_0 0 0 0 IYIDSNNNPER PRIDE
CLH1_HUMAN_0 0 0 0 KFDVNTSAVQVLIEHIGNLDR PRIDE
CLH1_HUMAN_0 0 0 0 KFNALFAQGNYSEAAK PRIDE
CLH1_HUMAN_0 0 0 0 KVGYTPDWIFLLR PRIDE
CLH1_HUMAN_0 0 0 0 LAELEEFINGPNNAHIQQVGDR PRIDE
CLH1_HUMAN_0 0 0 0 LASTLVHLGEYQAAVDGAR PRIDE
CLH1_HUMAN_0 0 0 0 LEKHELIEFR PRIDE
CLH1_HUMAN_0 0 0 0 LHIIEVGTPPTGNQPFPK PRIDE
CLH1_HUMAN_0 0 0 0 LLEMNLMHAPQVADAILGNQMFTHYDR PRIDE
CLH1_HUMAN_0 0 0 0 LLLPWLEAR PRIDE
CLH1_HUMAN_0 0 0 0 LLYNNVSNFGR PRIDE
CLH1_HUMAN_0 0 0 0 LPVVIGGLLDVDCSEDVIK PRIDE
CLH1_HUMAN_0 0 0 0 NLQNLLILTAIK PRIDE
CLH1_HUMAN_0 0 0 0 NLQNLLILTAIKADR PRIDE
CLH1_HUMAN_0 0 0 0 NNLAGAEELFAR PRIDE
CLH1_HUMAN_0 0 0 0 NNRPSEGPLQTR PRIDE
CLH1_HUMAN_0 0 0 0 RDPHLACVAYER PRIDE
CLH1_HUMAN_0 0 0 0 RPISADSAIMNPASK PRIDE
CLH1_HUMAN_0 0 0 0 SVDPTLALSVYLR PRIDE
CLH1_HUMAN_0 0 0 0 TLQIFNIEMK PRIDE
CLH1_HUMAN_0 0 0 0 TSIDAYDNFDNISLAQR PRIDE
CLH1_HUMAN_0 0 0 0 VANVELYYR PRIDE
CLH1_HUMAN_0 0 0 0 VDKLDASESLR PRIDE
CLH1_HUMAN_0 0 0 0 VGYTPDWIFLLR PRIDE
CLH1_HUMAN_0 0 0 0 VIQCFAETGQVQK PRIDE
CLH1_HUMAN_0 0 0 0 VMEYINR PRIDE
CLH1_HUMAN_0 0 0 0 VSQPIEGHAASFAQFK PRIDE
CLH1_HUMAN_0 0 0 0 VVGAMQLYSVDR PRIDE
CLH1_HUMAN_0 0 0 0 WLLLTGISAQQNR PRIDE
CLH1_HUMAN_0 0 0 0 YIEIYVQK PRIDE
CLH1_HUMAN_1 7 1 7 AQILPIR PRIDE
CLH1_HUMAN_100 12 100 111 AHTMTDDVTFWK PRIDE
CLH1_HUMAN_1010 12 1010 1021 IVLDNSVFSEHR PRIDE
CLH1_HUMAN_1022 12 1022 1033 NLQNLLILTAIK PRIDE
CLH1_HUMAN_1022 15 1022 1036 NLQNLLILTAIKADR PRIDE
CLH1_HUMAN_1073 21 1073 1093 KFDVNTSAVQVLIEHIGNLDR PRIDE
CLH1_HUMAN_1101 12 1101 1112 CNEPAVWSQLAK PRIDE
CLH1_HUMAN_1130 25 1130 1154 ADDPSSYMEVVQAANTSGNWEELVK PRIDE
CLH1_HUMAN_1165 14 1165 1178 ESYVETELIFALAK PRIDE
CLH1_HUMAN_1182 22 1182 1203 LAELEEFINGPNNAHIQQVGDR PRIDE
CLH1_HUMAN_1215 11 1215 1225 LLYNNVSNFGR PRIDE
CLH1_HUMAN_1226 19 1226 1244 LASTLVHLGEYQAAVDGAR PRIDE
CLH1_HUMAN_1251 13 1251 1263 TWKEVCFACVDGK PRIDE
CLH1_HUMAN_1254 10 1254 1263 EVCFACVDGK PRIDE
CLH1_HUMAN_1397 9 1397 1405 VANVELYYR PRIDE
CLH1_HUMAN_144 13 144 156 HSSLAGCQIINYR PRIDE
CLH1_HUMAN_1443 10 1443 1452 QLPLVKPYLR PRIDE
CLH1_HUMAN_1481 17 1481 1497 TSIDAYDNFDNISLAQR PRIDE
CLH1_HUMAN_1498 10 1498 1507 LEKHELIEFR PRIDE
CLH1_HUMAN_1535 10 1535 1544 DAMQYASESK PRIDE
CLH1_HUMAN_1545 18 1545 1562 DTELAEELLQWFLQEEKR PRIDE
CLH1_HUMAN_1588 16 1588 1603 HNIMDFAMPYFIQVMK PRIDE
CLH1_HUMAN_1588 21 1588 1608 HNIMDFAMPYFIQVMKEYLTK PRIDE
CLH1_HUMAN_163 13 163 175 WLLLTGISAQQNR PRIDE
CLH1_HUMAN_176 12 176 187 VVGAMQLYSVDR PRIDE
CLH1_HUMAN_189 16 189 204 VSQPIEGHAASFAQFK PRIDE
CLH1_HUMAN_2 7 2 8 AQILPIR PRIDE
CLH1_HUMAN_227 18 227 244 LHIIEVGTPPTGNQPFPK PRIDE
CLH1_HUMAN_297 23 297 319 ISGETIFVTAPHEATAGIIGVNR PRIDE
CLH1_HUMAN_297 24 297 320 ISGETIFVTAPHEATAGIIGVNRK PRIDE
CLH1_HUMAN_354 12 354 365 NNLAGAEELFAR PRIDE
CLH1_HUMAN_366 16 366 381 KFNALFAQGNYSEAAK PRIDE
CLH1_HUMAN_41 22 41 62 EKVGEQAQVVIIDMNDPSNPIR PRIDE
CLH1_HUMAN_429 15 429 443 YESLELCRPVLQQGR PRIDE
CLH1_HUMAN_43 20 43 62 VGEQAQVVIIDMNDPSNPIR PRIDE
CLH1_HUMAN_450 18 450 467 WLKEDKLECSEELGDLVK PRIDE
CLH1_HUMAN_468 13 468 480 SVDPTLALSVYLR PRIDE
CLH1_HUMAN_481 19 481 499 ANVPNKVIQCFAETGQVQK PRIDE
CLH1_HUMAN_487 13 487 499 VIQCFAETGQVQK PRIDE
CLH1_HUMAN_506 13 506 518 KVGYTPDWIFLLR PRIDE
CLH1_HUMAN_507 12 507 518 VGYTPDWIFLLR PRIDE
CLH1_HUMAN_571 12 571 582 NNRPSEGPLQTR PRIDE
CLH1_HUMAN_583 27 583 609 LLEMNLMHAPQVADAILGNQMFTHYDR PRIDE
CLH1_HUMAN_610 9 610 618 AHIAQLCEK PRIDE
CLH1_HUMAN_625 13 625 637 ALEHFTDLYDIKR PRIDE
CLH1_HUMAN_63 15 63 77 RPISADSAIMNPASK PRIDE
CLH1_HUMAN_688 18 688 705 YHEQLSTQSLIELFESFK PRIDE
CLH1_HUMAN_767 13 767 779 LTDQLPLIIVCDR PRIDE
CLH1_HUMAN_798 8 798 805 YIEIYVQK PRIDE
CLH1_HUMAN_806 24 806 829 VNPSRLPVVIGGLLDVDCSEDVIK PRIDE
CLH1_HUMAN_811 19 811 829 LPVVIGGLLDVDCSEDVIK PRIDE
CLH1_HUMAN_837 15 837 851 GQFSTDELVAEVEKR PRIDE
CLH1_HUMAN_854 11 854 864 LKLLLPWLEAR PRIDE
CLH1_HUMAN_856 9 856 864 LLLPWLEAR PRIDE
CLH1_HUMAN_86 10 86 95 TLQIFNIEMK PRIDE
CLH1_HUMAN_865 16 865 880 IHEGCEEPATHNALAK PRIDE
CLH1_HUMAN_881 11 881 891 IYIDSNNNPER PRIDE
CLH1_HUMAN_911 12 911 922 RDPHLACVAYER PRIDE
CLH1_HUMAN_912 11 912 922 DPHLACVAYER PRIDE
CLH1_HUMAN_949 18 949 966 RKDPELWGSVLLESNPYR PRIDE
CLH1_HUMAN_967 26 967 992 RPLIDQVVQTALSETQDPEEVSVTVK PRIDE
CLH1_HUMAN_993 17 993 1009 AFMTADLPNELIELLEK PRIDE
PAp00000402 9 611 619 AHIAQLCEK 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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