AutismKB 2.0

Annotation Detail for CCDC57


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CCDC57 ( FLJ00130,FLJ23754,FLJ43953,MGC102869 )
Gene Full Name: coiled-coil domain containing 57
Band: 17q25.3
Quick LinksEntrez ID:284001; OMIM: NA; Uniprot ID:CCD57_HUMAN; ENSEMBL ID: ENSG00000176155; HGNC ID: 27564
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
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult85 / 193912143
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor12 / 119369100
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor14 / 136302102
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal61 / 336030718
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain19 / 110098917
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye6 / 21105428
heart1 / 8962611
intestine5 / 23447221
kidney2 / 2117779
larynx0 / 241450 
liver1 / 2077434
lung12 / 33697435
lymph0 / 442700 
lymph node3 / 9161032
mammary gland8 / 15327152
mouth12 / 67052178
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas1 / 2148124
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate3 / 18934515
salivary gland1 / 2015549
skin0 / 2105740 
spleen0 / 539520 
stomach12 / 96619124
testis7 / 33044221
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
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_24_P896373
  • 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
Amygdala8.54 ± 0.42
Basal Forebrain8.32 ± 0.2
Basal Part of Pons8.24 ± 0.24
Cerebellar Cortex8.55 ± 0.37
Cerebellar Nuclei7.88 ± 0.41
Claustrum8.15 ± 0.32
Epithalamus8.91 ± 0.71
Frontal Lobe8.05 ± 0.38
Globus Pallidus7.46 ± 0.3
Hypothalamus8.01 ± 0.19
Insula8.24 ± 0.38
Limbic Lobe8.44 ± 0.5
Mesencephalon8.13 ± 0.35
Myelencephalon8.26 ± 0.45
Occipital Lobe8.76 ± 0.5
Parietal Lobe8.35 ± 0.3
Pontine Tegmentum8.13 ± 0.38
Striatum8.65 ± 0.37
Subthalamus7.94 ± 0.31
Temporal Lobe8.27 ± 0.34
Thalamus7.9 ± 0.23
White Matter7.01 ± 0.53
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc57CBCerebellum0.51
0.52
Ccdc57CTXCerebral cortex3.79
2.25
Ccdc57HIPHippocampal region3.73
2.95
Ccdc57HPFHippocampal formation4.2
3.03
Ccdc57HYHypothalamus0.43
0.27
Ccdc57LSXLateral septal complex0.25
0.13
Ccdc57MBMidbrain0.4
0.43
Ccdc57MYMedulla0.79
0.66
Ccdc57OLFOlfactory bulb13.6
10.52
Ccdc57PPons0.25
0.22
Ccdc57PALPallidum0.28
0.16
Ccdc57RHPRetrohippocampal region5.67
3.57
Ccdc57sAMYStriatum-like amygdalar nuclei1.61
0.98
Ccdc57STRStriatum0.97
0.62
Ccdc57STRdStriatum dorsal region0.47
0.34
Ccdc57STRvStriatum ventral region2.84
1.63
Ccdc57THThalamus0.77
0.77
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