AutismKB 2.0

Annotation Detail for CCDC120


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Basic Information Top
Gene Symbol:CCDC120 ( - )
Gene Full Name: coiled-coil domain containing 120
Band: Xp11.23
Quick LinksEntrez ID:90060; OMIM: NA; Uniprot ID:CC120_HUMAN; ENSEMBL ID: ENSG00000147144; HGNC ID: 28910
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 body1 / 7076114
blastocyst1 / 6231916
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult30 / 193912115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor9 / 13630266
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal62 / 336030718
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
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 gland1 / 3319730
ascites0 / 400150 
bladder2 / 2975767
blood0 / 1234780 
bone2 / 7165527
bone marrow1 / 4880120
brain34 / 110098930
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine9 / 23447238
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth8 / 67052119
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta13 / 28082546
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P48983
  • 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
Amygdala6.16 ± 0.66
Basal Forebrain6.05 ± 0.22
Basal Part of Pons6.09 ± 0.29
Cerebellar Cortex5.77 ± 0.47
Cerebellar Nuclei6.45 ± 0.49
Claustrum6.49 ± 0.72
Epithalamus5.36 ± 0.27
Frontal Lobe5.97 ± 0.54
Globus Pallidus6.41 ± 0.32
Hypothalamus5.76 ± 0.47
Insula5.89 ± 0.39
Limbic Lobe6.03 ± 0.52
Mesencephalon6.22 ± 0.44
Myelencephalon6.1 ± 0.55
Occipital Lobe6.11 ± 0.47
Parietal Lobe6.02 ± 0.49
Pontine Tegmentum5.95 ± 0.45
Striatum6.35 ± 0.39
Subthalamus6.08 ± 0.18
Temporal Lobe5.95 ± 0.55
Thalamus6.21 ± 0.39
White Matter5.96 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ccdc120CBCerebellum11.28
14.06
Ccdc120CTXCerebral cortex9.29
7.48
Ccdc120HIPHippocampal region6.9
7.39
Ccdc120HPFHippocampal formation7.52
7.11
Ccdc120HYHypothalamus2.64
1.75
Ccdc120LSXLateral septal complex3.22
2.69
Ccdc120MBMidbrain6.28
5.07
Ccdc120MYMedulla19.72
21.49
Ccdc120OLFOlfactory bulb9.19
8.36
Ccdc120PPons9.41
8.23
Ccdc120PALPallidum3.29
3.16
Ccdc120RHPRetrohippocampal region8.98
7.07
Ccdc120sAMYStriatum-like amygdalar nuclei11.75
7.7
Ccdc120STRStriatum4.77
3.39
Ccdc120STRdStriatum dorsal region4.91
3.65
Ccdc120STRvStriatum ventral region1.27
0.69
Ccdc120THThalamus6.43
4.57
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009761 21 594 614 CYEVGQALYGAPSQAPLPHSR 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