AutismKB 2.0

Annotation Detail for CCDC127


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Basic Information Top
Gene Symbol:CCDC127 ( FLJ25701 )
Gene Full Name: coiled-coil domain containing 127
Band: 5p15.33
Quick LinksEntrez ID:133957; OMIM: NA; Uniprot ID:CC127_HUMAN; ENSEMBL ID: ENSG00000164366; HGNC ID: 30520
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
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult41 / 193912121
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma5 / 7175569
non-neoplasia0 / 972500 
normal70 / 336030720
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow1 / 4880120
brain23 / 110098920
cervix3 / 4817162
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye5 / 21105423
heart0 / 896260 
intestine8 / 23447234
kidney2 / 2117779
larynx0 / 241450 
liver4 / 20774319
lung6 / 33697417
lymph1 / 4427022
lymph node2 / 9161021
mammary gland2 / 15327113
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta6 / 28082521
prostate6 / 18934531
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis1 / 3304423
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P41976
  • 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
Amygdala7.7 ± 0.24
Basal Forebrain7.78 ± 0.15
Basal Part of Pons7.85 ± 0.15
Cerebellar Cortex7.65 ± 0.2
Cerebellar Nuclei7.82 ± 0.14
Claustrum7.76 ± 0.27
Epithalamus7.84 ± 0.26
Frontal Lobe7.83 ± 0.23
Globus Pallidus7.85 ± 0.1
Hypothalamus7.96 ± 0.1
Insula7.78 ± 0.2
Limbic Lobe7.61 ± 0.23
Mesencephalon7.81 ± 0.23
Myelencephalon7.74 ± 0.28
Occipital Lobe7.62 ± 0.21
Parietal Lobe7.76 ± 0.25
Pontine Tegmentum7.72 ± 0.24
Striatum7.76 ± 0.21
Subthalamus7.81 ± 0.05
Temporal Lobe7.76 ± 0.23
Thalamus7.75 ± 0.21
White Matter7.64 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc127CBCerebellum13.69
17.71
Ccdc127CTXCerebral cortex15.66
13.3
Ccdc127HIPHippocampal region25.4
28.97
Ccdc127HPFHippocampal formation22.15
23.29
Ccdc127HYHypothalamus13.63
13.57
Ccdc127LSXLateral septal complex0.7
0.75
Ccdc127MBMidbrain7.95
10.06
Ccdc127MYMedulla17.13
27.53
Ccdc127OLFOlfactory bulb14.97
14.84
Ccdc127PPons20.07
26.81
Ccdc127PALPallidum11.86
14.63
Ccdc127RHPRetrohippocampal region16.19
14.78
Ccdc127sAMYStriatum-like amygdalar nuclei12.95
10.52
Ccdc127STRStriatum5.8
5.22
Ccdc127STRdStriatum dorsal region3.05
2.84
Ccdc127STRvStriatum ventral region14.39
12.31
Ccdc127THThalamus9.42
8.96
Peptide Top

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