AutismKB 2.0

Annotation Detail for CTNNA1


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Basic Information Top
Gene Symbol:CTNNA1 ( CAP102,FLJ36832,FLJ52416 )
Gene Full Name: catenin (cadherin-associated protein), alpha 1, 102kDa
Band: 5q31.2
Quick LinksEntrez ID:1495; OMIM: 116805; Uniprot ID:CTNA1_HUMAN; ENSEMBL ID: ENSG00000044115; HGNC ID: 2509
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 body42 / 70761593
blastocyst47 / 62319754
fetus300 / 564012531
neonate15 / 31097482
infant2 / 2362084
juvenile18 / 55556323
adult866 / 1939121446
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus72 / 564012127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult12 / 19391216
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma3 / 17475171
breast (mammary gland) tumor40 / 94178424
cervical tumor10 / 34366290
chondrosarcoma36 / 82823434
colorectal tumor74 / 114246647
esophageal tumor3 / 17290173
gastrointestinal tumor63 / 119369527
germ cell tumor236 / 263845894
glioma48 / 106883449
head and neck tumor235 / 1363021724
kidney tumor42 / 68959609
leukemia19 / 95842198
liver tumor36 / 96359373
lung tumor56 / 103127543
lymphoma4 / 7175555
non-neoplasia55 / 97250565
normal1721 / 3360307512
ovarian tumor36 / 76682469
pancreatic tumor37 / 104616353
primitive neuroectodermal tumor of the CNS22 / 125680175
prostate cancer28 / 102680272
retinoblastoma9 / 46356194
skin tumor122 / 124949976
soft tissue/muscle tissue tumor37 / 125191295
uterine tumor76 / 90257842
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal137 / 336030740
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland15 / 33197451
ascites37 / 40015924
bladder12 / 29757403
blood16 / 123478129
bone28 / 71655390
bone marrow6 / 48801122
brain896 / 1100989813
cervix13 / 48171269
connective tissue93 / 149255623
ear4 / 16212246
embryonic tissue113 / 215722523
esophagus3 / 20209148
eye45 / 211054213
heart27 / 89626301
intestine108 / 234472460
kidney107 / 211777505
larynx8 / 24145331
liver50 / 207743240
lung251 / 336974744
lymph2 / 4427045
lymph node18 / 91610196
mammary gland72 / 153271469
mouth166 / 670522475
muscle24 / 107715222
nerve5 / 15768317
ovary44 / 102051431
pancreas47 / 214812218
parathyroid13 / 20539632
pharynx53 / 413281282
pituitary gland5 / 16585301
placenta168 / 280825598
prostate60 / 189345316
salivary gland8 / 20155396
skin162 / 210574769
spleen28 / 53952518
stomach30 / 96619310
testis247 / 330442747
thymus34 / 81131419
thyroid25 / 47473526
tonsil0 / 169990 
trachea274 / 524135227
umbilical cord2 / 13680146
uterus221 / 232878948
vascular24 / 51780463
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain124 / 1100989112
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung0 / 3369740 
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210844_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts347.95
Adipocyte438.95
AdrenalCortex417.95
Adrenalgland297.5
Amygdala324.9
Appendix151.2
AtrioventricularNode124.8
BDCA4+_DentriticCells292.45
Bonemarrow123.8
BronchialEpithelialCells882.1
CD105+_Endothelial599.2
CD14+_Monocytes590.3
CD19+_BCells(neg._sel.)86.3
CD33+_Myeloid555.3
CD34+308.05
CD4+_Tcells5.35
CD56+_NKCells96.85
CD71+_EarlyErythroid1087.2
CD8+_Tcells4.6
CardiacMyocytes806.2
Caudatenucleus308.8
Cerebellum68
CerebellumPeduncles152.55
CiliaryGanglion162.9
CingulateCortex200.7
Colorectaladenocarcinoma1736.35
DorsalRootGanglion277.8
FetalThyroid839.75
Fetalbrain363.75
Fetalliver200.8
Fetallung672.9
GlobusPallidus133.8
Heart270.2
Hypothalamus574.3
Kidney296.8
Leukemia_chronicMyelogenousK-562218.45
Leukemia_promyelocytic-HL-605.65
Leukemialymphoblastic(MOLT-4)114.65
Liver134.95
Lung957.5
Lymphnode206.4
Lymphoma_burkitts(Daudi)8.2
Lymphoma_burkitts(Raji)7.6
MedullaOblongata295.45
OccipitalLobe317.3
OlfactoryBulb613.8
Ovary195.6
Pancreas393.7
PancreaticIslet602
ParietalLobe349.8
Pituitary272.9
Placenta770.4
Pons203.55
PrefrontalCortex399.3
Prostate680.7
Salivarygland225.85
SkeletalMuscle58.4
Skin143.35
SmoothMuscle958.5
Spinalcord514.75
SubthalamicNucleus197.85
SuperiorCervicalGanglion42.3
TemporalLobe118.9
Testis156.65
TestisGermCell232.8
TestisIntersitial125.65
TestisLeydigCell140.25
TestisSeminiferousTubule120.35
Thalamus366.7
Thymus142
Thyroid771.65
Tongue476.8
Tonsil294.6
Trachea327.05
TrigeminalGanglion178.25
Uterus575.6
UterusCorpus177.05
WholeBlood240.3
Wholebrain302.9
colon498.9
pineal_day403.34
pineal_night383.34
retina639.35
small_intestine438.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P63342
  • 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
Amygdala2.42 ± 0.96
Basal Forebrain2.14 ± 0.26
Basal Part of Pons1.75 ± 0.27
Cerebellar Cortex1.96 ± 0.76
Cerebellar Nuclei2.37 ± 0.72
Claustrum3.04 ± 0.85
Epithalamus1.83 ± 0.77
Frontal Lobe1.96 ± 0.77
Globus Pallidus2.61 ± 0.39
Hypothalamus2.46 ± 1.27
Insula1.96 ± 0.65
Limbic Lobe2.05 ± 0.61
Mesencephalon2.24 ± 0.67
Myelencephalon2.1 ± 0.68
Occipital Lobe2.16 ± 0.58
Parietal Lobe2.08 ± 0.75
Pontine Tegmentum2.21 ± 0.9
Striatum2.27 ± 0.61
Subthalamus2.32 ± 0.78
Temporal Lobe1.98 ± 0.67
Thalamus2.05 ± 0.61
White Matter2.73 ± 0.66
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CTNA1_HUMAN_195 10 195 204 QQELKDVGHR PRIDE
CTNA1_HUMAN_287 13 287 299 QIIVDPLSFSEER PRIDE
CTNA1_HUMAN_288 13 288 300 QIIVDPLSFSEER PRIDE
CTNA1_HUMAN_293 8 293 300 PLSFSEER PRIDE
CTNA1_HUMAN_3 13 3 15 NAGNEQDLGIQYR PRIDE
CTNA1_HUMAN_341 17 341 357 QALQDLLSEYMGNAGRK PRIDE
CTNA1_HUMAN_342 16 342 357 QALQDLLSEYMGNAGR PRIDE
CTNA1_HUMAN_380 29 380 408 QLRKAVMDHVSDSFLETNVPLLVLIEAAK PRIDE
CTNA1_HUMAN_384 25 384 408 AVMDHVSDSFLETNVPLLVLIEAAK PRIDE
CTNA1_HUMAN_479 10 479 488 LAQENMDLFK PRIDE
CTNA1_HUMAN_578 9 578 586 LLSNTVMPR PRIDE
CTNA1_HUMAN_671 11 671 681 AIMAQLPQEQK PRIDE
CTNA1_HUMAN_795 28 795 822 VKAEVQNLGGELVVSGVDSAMSLIQAAK PRIDE
CTNA1_HUMAN_797 26 797 822 AEVQNLGGELVVSGVDSAMSLIQAAK PRIDE
CTNA1_HUMAN_823 11 823 833 NLMNAVVQTVK PRIDE
CTNA1_HUMAN_845 15 845 859 SQGMASLNLPAVSWK PRIDE
PAp00000124 15 106 120 AAAGEFADDPCSSVK 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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