AutismKB 2.0

Annotation Detail for CCDC50


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Basic Information Top
Gene Symbol:CCDC50 ( C3orf6,DFNA44,YMER )
Gene Full Name: coiled-coil domain containing 50
Band: 3q28
Quick LinksEntrez ID:152137; OMIM: 611051; Uniprot ID:CCD50_HUMAN; ENSEMBL ID: ENSG00000152492; HGNC ID: 18111
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 body7 / 7076198
blastocyst0 / 623190 
fetus58 / 564012102
neonate0 / 310970 
infant3 / 23620127
juvenile2 / 5555635
adult166 / 193912185
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) tumor21 / 94178222
cervical tumor1 / 3436629
chondrosarcoma9 / 82823108
colorectal tumor14 / 114246122
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor7 / 26384526
glioma5 / 10688346
head and neck tumor21 / 136302154
kidney tumor10 / 68959145
leukemia7 / 9584273
liver tumor13 / 96359134
lung tumor3 / 10312729
lymphoma4 / 7175555
non-neoplasia3 / 9725030
normal209 / 336030762
ovarian tumor4 / 7668252
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS17 / 125680135
prostate cancer6 / 10268058
retinoblastoma2 / 4635643
skin tumor14 / 124949112
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland1 / 3319730
ascites0 / 400150 
bladder5 / 29757168
blood4 / 12347832
bone4 / 7165555
bone marrow1 / 4880120
brain60 / 110098954
cervix1 / 4817120
connective tissue16 / 149255107
ear4 / 16212246
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye17 / 21105480
heart3 / 8962633
intestine15 / 23447263
kidney25 / 211777118
larynx0 / 241450 
liver18 / 20774386
lung21 / 33697462
lymph0 / 442700 
lymph node11 / 91610120
mammary gland25 / 153271163
mouth12 / 67052178
muscle4 / 10771537
nerve2 / 15768126
ovary7 / 10205168
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx7 / 41328169
pituitary gland1 / 1658560
placenta27 / 28082596
prostate8 / 18934542
salivary gland0 / 201550 
skin22 / 210574104
spleen1 / 5395218
stomach10 / 96619103
testis8 / 33044224
thymus4 / 8113149
thyroid6 / 47473126
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
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_P51786
  • 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
Amygdala9.85 ± 0.35
Basal Forebrain10 ± 0.4
Basal Part of Pons9.6 ± 0.27
Cerebellar Cortex9.57 ± 0.19
Cerebellar Nuclei10.12 ± 0.32
Claustrum9.91 ± 0.31
Epithalamus9.81 ± 0.25
Frontal Lobe9.6 ± 0.38
Globus Pallidus11.1 ± 0.28
Hypothalamus9.98 ± 0.27
Insula9.64 ± 0.29
Limbic Lobe9.66 ± 0.55
Mesencephalon10.02 ± 0.31
Myelencephalon9.87 ± 0.34
Occipital Lobe10.04 ± 0.46
Parietal Lobe9.76 ± 0.39
Pontine Tegmentum9.84 ± 0.36
Striatum9.97 ± 0.43
Subthalamus9.9 ± 0.2
Temporal Lobe9.71 ± 0.33
Thalamus10.02 ± 0.25
White Matter10.9 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc50CBCerebellum26.72
83.23
Ccdc50CTXCerebral cortex85.13
64.05
Ccdc50HIPHippocampal region47.68
59.19
Ccdc50HPFHippocampal formation52.77
54.8
Ccdc50HYHypothalamus72.76
59.42
Ccdc50LSXLateral septal complex49.68
35.71
Ccdc50MBMidbrain62.66
56.25
Ccdc50MYMedulla67.51
71.54
Ccdc50OLFOlfactory bulb84.55
72.01
Ccdc50PPons60.97
61.93
Ccdc50PALPallidum72.53
68.2
Ccdc50RHPRetrohippocampal region64.61
50.47
Ccdc50sAMYStriatum-like amygdalar nuclei65.25
53.12
Ccdc50STRStriatum38.85
29.68
Ccdc50STRdStriatum dorsal region31.05
24.57
Ccdc50STRvStriatum ventral region47.1
31.67
Ccdc50THThalamus89.14
78.89
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CCD50_HUMAN_2 18 2 19 AEVSIDQSKLPGVKEVCR PRIDE
PAp00039150 18 77 94 YKDLEQQDCEIAQEIQEK 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