AutismKB 2.0

Annotation Detail for CC2D1A


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Basic Information Top
Gene Symbol:CC2D1A ( FLJ20241,FLJ41160,FREUD-1,Freud-1/Aki1,MRT3 )
Gene Full Name: coiled-coil and C2 domain containing 1A
Band: 19p13.12
Quick LinksEntrez ID:54862; OMIM: 610055; Uniprot ID:C2D1A_HUMAN; ENSEMBL ID: ENSG00000132024; HGNC ID: 30237
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 body2 / 7076128
blastocyst1 / 6231916
fetus14 / 56401224
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult71 / 193912136
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor7 / 26384526
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma3 / 7175541
non-neoplasia6 / 9725061
normal112 / 336030733
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor12 / 12494996
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow1 / 4880120
brain58 / 110098952
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye8 / 21105437
heart0 / 896260 
intestine18 / 23447276
kidney1 / 2117774
larynx1 / 2414541
liver4 / 20774319
lung9 / 33697426
lymph3 / 4427067
lymph node1 / 9161010
mammary gland5 / 15327132
mouth2 / 6705229
muscle5 / 10771546
nerve0 / 157680 
ovary3 / 10205129
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta14 / 28082549
prostate11 / 18934558
salivary gland0 / 201550 
skin13 / 21057461
spleen1 / 5395218
stomach5 / 9661951
testis8 / 33044224
thymus8 / 8113198
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus8 / 23287834
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221888_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.6
Adipocyte5.8
AdrenalCortex5.9
Adrenalgland4.9
Amygdala6.3
Appendix5.65
AtrioventricularNode4.3
BDCA4+_DentriticCells6.5
Bonemarrow5.6
BronchialEpithelialCells5.65
CD105+_Endothelial5.95
CD14+_Monocytes6.35
CD19+_BCells(neg._sel.)6
CD33+_Myeloid7.35
CD34+7.65
CD4+_Tcells6.8
CD56+_NKCells7.75
CD71+_EarlyErythroid5.45
CD8+_Tcells5.85
CardiacMyocytes8.2
Caudatenucleus5
Cerebellum4.75
CerebellumPeduncles6.6
CiliaryGanglion3.95
CingulateCortex6.4
Colorectaladenocarcinoma5.95
DorsalRootGanglion4.45
FetalThyroid8.85
Fetalbrain6.35
Fetalliver4.9
Fetallung4.7
GlobusPallidus4.25
Heart7.35
Hypothalamus6.5
Kidney4.8
Leukemia_chronicMyelogenousK-5626.95
Leukemia_promyelocytic-HL-605.25
Leukemialymphoblastic(MOLT-4)4.8
Liver7.9
Lung7.25
Lymphnode5.05
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)10.3
MedullaOblongata5.05
OccipitalLobe5.15
OlfactoryBulb5.15
Ovary3.85
Pancreas4.5
PancreaticIslet6.05
ParietalLobe6.25
Pituitary6.5
Placenta5.6
Pons5.25
PrefrontalCortex12.75
Prostate12.15
Salivarygland4.65
SkeletalMuscle6.5
Skin4.35
SmoothMuscle6.5
Spinalcord6.2
SubthalamicNucleus5.25
SuperiorCervicalGanglion6.5
TemporalLobe5.35
Testis5
TestisGermCell5
TestisIntersitial4.75
TestisLeydigCell5.75
TestisSeminiferousTubule5.3
Thalamus5.95
Thymus4.6
Thyroid11.9
Tongue5.75
Tonsil5.65
Trachea5.55
TrigeminalGanglion5.6
Uterus5.35
UterusCorpus5.15
WholeBlood6.3
Wholebrain4.9
colon6
pineal_day15.86
pineal_night11.86
retina9.3
small_intestine5.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P41371
  • 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
Amygdala4.69 ± 0.64
Basal Forebrain4.23 ± 0.11
Basal Part of Pons3.88 ± 0.52
Cerebellar Cortex4.42 ± 0.45
Cerebellar Nuclei4.03 ± 0.45
Claustrum4.47 ± 0.85
Epithalamus3.85 ± 0.47
Frontal Lobe3.98 ± 0.51
Globus Pallidus4.43 ± 0.46
Hypothalamus3.98 ± 0.56
Insula4.02 ± 0.43
Limbic Lobe4.45 ± 0.52
Mesencephalon4.14 ± 0.64
Myelencephalon4.24 ± 0.61
Occipital Lobe4.37 ± 0.57
Parietal Lobe4.23 ± 0.59
Pontine Tegmentum4.24 ± 0.51
Striatum3.74 ± 0.6
Subthalamus3.99 ± 0.17
Temporal Lobe4.25 ± 0.45
Thalamus4 ± 0.49
White Matter3.96 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cc2d1aCBCerebellum30.35
37.09
Cc2d1aCTXCerebral cortex70.32
52.36
Cc2d1aHIPHippocampal region46.57
66.72
Cc2d1aHPFHippocampal formation58.06
65.39
Cc2d1aHYHypothalamus44.49
34.65
Cc2d1aLSXLateral septal complex30.76
22.41
Cc2d1aMBMidbrain48.46
40.97
Cc2d1aMYMedulla55.68
57.93
Cc2d1aOLFOlfactory bulb78.81
69.08
Cc2d1aPPons42.31
41.24
Cc2d1aPALPallidum45.6
39.84
Cc2d1aRHPRetrohippocampal region74.52
63.64
Cc2d1asAMYStriatum-like amygdalar nuclei74.06
54.72
Cc2d1aSTRStriatum41.06
30.62
Cc2d1aSTRdStriatum dorsal region34.17
26.27
Cc2d1aSTRvStriatum ventral region50.63
34.76
Cc2d1aTHThalamus44.16
37.88
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00068362 20 664 683 GINLPTPPGLSPGDLDVFVR 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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