AutismKB 2.0

Annotation Detail for CCDC148


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Basic Information Top
Gene Symbol:CCDC148 ( MGC125588,MGC125590 )
Gene Full Name: coiled-coil domain containing 148
Band: 2q24.1
Quick LinksEntrez ID:130940; OMIM: NA; Uniprot ID:CC148_HUMAN; ENSEMBL ID: ENSG00000153237; HGNC ID: 25191
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 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal12 / 33603073
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
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_561_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
Amygdala5.84 ± 0.39
Basal Forebrain5.91 ± 0.3
Basal Part of Pons5.44 ± 0.34
Cerebellar Cortex5.41 ± 0.45
Cerebellar Nuclei5.35 ± 0.26
Claustrum4.96 ± 0.48
Epithalamus6.4 ± 0.71
Frontal Lobe5.5 ± 0.51
Globus Pallidus6.41 ± 0.22
Hypothalamus5.75 ± 0.34
Insula5.63 ± 0.43
Limbic Lobe5.69 ± 0.51
Mesencephalon5.62 ± 0.5
Myelencephalon5.58 ± 0.57
Occipital Lobe4.97 ± 0.5
Parietal Lobe5.35 ± 0.47
Pontine Tegmentum5.51 ± 0.53
Striatum6.21 ± 0.39
Subthalamus5.32 ± 0.77
Temporal Lobe5.58 ± 0.42
Thalamus5.3 ± 0.44
White Matter6.15 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC062650CBCerebellum2.74
2.99
BC062650CTXCerebral cortex4.25
3.03
BC062650HIPHippocampal region1.84
1.66
BC062650HPFHippocampal formation4.82
4.17
BC062650HYHypothalamus0.85
0.61
BC062650LSXLateral septal complex0.37
0.25
BC062650MBMidbrain1.09
1.1
BC062650MYMedulla3.17
3.5
BC062650OLFOlfactory bulb6.53
5.68
BC062650PPons1.88
2.03
BC062650PALPallidum3.26
2.63
BC062650RHPRetrohippocampal region10.62
8.24
BC062650sAMYStriatum-like amygdalar nuclei1.78
1.37
BC062650STRStriatum2.22
1.56
BC062650STRdStriatum dorsal region1.87
1.41
BC062650STRvStriatum ventral region4.37
2.54
BC062650THThalamus1.43
1.11
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