AutismKB 2.0

Annotation Detail for CCDC125


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Basic Information Top
Gene Symbol:CCDC125 ( KENAE )
Gene Full Name: coiled-coil domain containing 125
Band: 5q13.2
Quick LinksEntrez ID:202243; OMIM: NA; Uniprot ID:CC125_HUMAN; ENSEMBL ID: ENSG00000183323; HGNC ID: 28924
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 
fetus2 / 5640123
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult24 / 193912112
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal22 / 33603076
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood4 / 12347832
bone0 / 716550 
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver5 / 20774324
lung1 / 3369742
lymph0 / 442700 
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach1 / 9661910
testis1 / 3304423
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_355_PI416261804
  • 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
Amygdala7.72 ± 0.27
Basal Forebrain7.9 ± 0.38
Basal Part of Pons7.67 ± 0.23
Cerebellar Cortex8.01 ± 0.13
Cerebellar Nuclei7.75 ± 0.27
Claustrum8.11 ± 0.28
Epithalamus8.38 ± 0.16
Frontal Lobe7.74 ± 0.28
Globus Pallidus8.39 ± 0.18
Hypothalamus7.92 ± 0.2
Insula7.69 ± 0.23
Limbic Lobe7.73 ± 0.34
Mesencephalon8.02 ± 0.23
Myelencephalon7.87 ± 0.31
Occipital Lobe8.08 ± 0.32
Parietal Lobe7.87 ± 0.26
Pontine Tegmentum7.8 ± 0.25
Striatum7.64 ± 0.36
Subthalamus7.85 ± 0.13
Temporal Lobe7.77 ± 0.27
Thalamus7.99 ± 0.2
White Matter8.28 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5830436D01RikCBCerebellum2.34
2.74
5830436D01RikCTXCerebral cortex1.31
1.56
5830436D01RikHIPHippocampal region1.5
1.43
5830436D01RikHPFHippocampal formation1.16
1.07
5830436D01RikHYHypothalamus0.3
0.38
5830436D01RikLSXLateral septal complex0.6
0.52
5830436D01RikMBMidbrain0.48
0.56
5830436D01RikMYMedulla0.61
0.77
5830436D01RikOLFOlfactory bulb1.07
0.96
5830436D01RikPPons0.56
0.67
5830436D01RikPALPallidum0.45
0.38
5830436D01RikRHPRetrohippocampal region0.57
0.5
5830436D01RiksAMYStriatum-like amygdalar nuclei0.56
0.46
5830436D01RikSTRStriatum0.56
0.58
5830436D01RikSTRdStriatum dorsal region0.52
0.56
5830436D01RikSTRvStriatum ventral region0.69
0.69
5830436D01RikTHThalamus0.85
1.19
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