AutismKB 2.0

Annotation Detail for CCDC134


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Basic Information Top
Gene Symbol:CCDC134 ( FLJ22349,MGC21013,dJ821D11.3 )
Gene Full Name: coiled-coil domain containing 134
Band: 22q13.2
Quick LinksEntrez ID:79879; OMIM: NA; Uniprot ID:CC134_HUMAN; ENSEMBL ID: ENSG00000100147; HGNC ID: 26185
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 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult16 / 19391218
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal14 / 33603074
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
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 tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone4 / 7165555
bone marrow1 / 4880120
brain3 / 11009892
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney3 / 21177714
larynx1 / 2414541
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland6 / 15327139
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate7 / 18934536
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis3 / 3304429
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220077_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.75
Adipocyte5.65
AdrenalCortex7.5
Adrenalgland5.75
Amygdala5.7
Appendix6.05
AtrioventricularNode8.55
BDCA4+_DentriticCells5.65
Bonemarrow6.5
BronchialEpithelialCells5.5
CD105+_Endothelial5.75
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)5.95
CD33+_Myeloid6.7
CD34+7.15
CD4+_Tcells5.95
CD56+_NKCells6.3
CD71+_EarlyErythroid5.35
CD8+_Tcells5.3
CardiacMyocytes8.35
Caudatenucleus5.35
Cerebellum5.6
CerebellumPeduncles6.7
CiliaryGanglion4.45
CingulateCortex6
Colorectaladenocarcinoma5.65
DorsalRootGanglion4.7
FetalThyroid5.7
Fetalbrain5.7
Fetalliver5.05
Fetallung4.55
GlobusPallidus7.15
Heart7.95
Hypothalamus6.05
Kidney4.9
Leukemia_chronicMyelogenousK-5625.25
Leukemia_promyelocytic-HL-605.1
Leukemialymphoblastic(MOLT-4)4.45
Liver8
Lung6.15
Lymphnode4.9
Lymphoma_burkitts(Daudi)9.8
Lymphoma_burkitts(Raji)8.4
MedullaOblongata5.2
OccipitalLobe7
OlfactoryBulb4.55
Ovary4.75
Pancreas4.65
PancreaticIslet6.2
ParietalLobe6.3
Pituitary6.7
Placenta5.8
Pons9.2
PrefrontalCortex6.9
Prostate6.55
Salivarygland4.75
SkeletalMuscle12.8
Skin6.9
SmoothMuscle6.45
Spinalcord6.45
SubthalamicNucleus5.4
SuperiorCervicalGanglion7.25
TemporalLobe8.2
Testis4.9
TestisGermCell4.5
TestisIntersitial4.9
TestisLeydigCell5.75
TestisSeminiferousTubule5.6
Thalamus6
Thymus4.4
Thyroid6.85
Tongue6.15
Tonsil5.8
Trachea4.75
TrigeminalGanglion8
Uterus4.45
UterusCorpus6.5
WholeBlood6.1
Wholebrain4.5
colon5.75
pineal_day6.84
pineal_night6.68
retina6.775
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P194420
  • 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
Amygdala3.74 ± 0.81
Basal Forebrain3.5 ± 0.53
Basal Part of Pons3.49 ± 0.85
Cerebellar Cortex4.22 ± 0.34
Cerebellar Nuclei3.61 ± 0.63
Claustrum3.8 ± 0.85
Epithalamus3.58 ± 0.68
Frontal Lobe3.46 ± 0.56
Globus Pallidus3.65 ± 0.63
Hypothalamus3.27 ± 0.51
Insula3.16 ± 0.38
Limbic Lobe3.41 ± 0.66
Mesencephalon3.75 ± 0.72
Myelencephalon3.68 ± 0.61
Occipital Lobe4.12 ± 0.53
Parietal Lobe3.55 ± 0.57
Pontine Tegmentum3.54 ± 0.56
Striatum3.51 ± 0.75
Subthalamus3.29 ± 0.52
Temporal Lobe3.54 ± 0.59
Thalamus3.77 ± 0.6
White Matter4.33 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2310042L06RikCBCerebellum5.14
5.68
2310042L06RikCTXCerebral cortex4.77
3.18
2310042L06RikHIPHippocampal region4.55
4.01
2310042L06RikHPFHippocampal formation4.32
3.44
2310042L06RikHYHypothalamus0.67
0.57
2310042L06RikLSXLateral septal complex1.14
1.01
2310042L06RikMBMidbrain1.88
1.77
2310042L06RikMYMedulla3.99
3.45
2310042L06RikOLFOlfactory bulb14.48
12.07
2310042L06RikPPons2.23
1.99
2310042L06RikPALPallidum0.74
0.55
2310042L06RikRHPRetrohippocampal region3.85
2.59
2310042L06RiksAMYStriatum-like amygdalar nuclei1.37
1.05
2310042L06RikSTRStriatum1.62
1.1
2310042L06RikSTRdStriatum dorsal region1.34
0.88
2310042L06RikSTRvStriatum ventral region2.88
1.77
2310042L06RikTHThalamus12.96
8.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00400978 13 52 64 NLAQLNDIHQQYK 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