AutismKB 2.0

Annotation Detail for C12orf73


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Basic Information Top
Gene Symbol:C12orf73 ( DKFZp547P055,FLJ13975 )
Gene Full Name: chromosome 12 open reading frame 73
Band: 12q23.3
Quick LinksEntrez ID:728568; OMIM: NA; Uniprot ID:CL073_HUMAN; ENSEMBL ID: ENSG00000204954; HGNC ID: 34450
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 
blastocyst1 / 6231916
fetus16 / 56401228
neonate4 / 31097128
infant0 / 236200 
juvenile0 / 555560 
adult26 / 193912113
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal68 / 336030720
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain20 / 110098918
cervix0 / 481710 
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye9 / 21105442
heart0 / 896260 
intestine3 / 23447212
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung5 / 33697414
lymph0 / 442700 
lymph node4 / 9161043
mammary gland4 / 15327126
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord4 / 13680292
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: A_24_P769672
  • 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
Amygdala6.4 ± 0.67
Basal Forebrain6.51 ± 0.27
Basal Part of Pons7 ± 0.54
Cerebellar Cortex6.89 ± 0.35
Cerebellar Nuclei6.87 ± 0.37
Claustrum6.31 ± 0.73
Epithalamus6.93 ± 0.29
Frontal Lobe6.93 ± 0.4
Globus Pallidus6.27 ± 0.32
Hypothalamus7.45 ± 0.51
Insula7.09 ± 0.41
Limbic Lobe6.47 ± 0.69
Mesencephalon6.66 ± 0.6
Myelencephalon6.67 ± 0.57
Occipital Lobe6.07 ± 0.64
Parietal Lobe6.64 ± 0.48
Pontine Tegmentum6.69 ± 0.53
Striatum6.08 ± 0.5
Subthalamus6.73 ± 1.33
Temporal Lobe6.98 ± 0.45
Thalamus6.69 ± 0.48
White Matter6.79 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1810014B01RikCBCerebellum1.65
2.3
1810014B01RikCTXCerebral cortex1.26
1.28
1810014B01RikHIPHippocampal region2.75
3.11
1810014B01RikHPFHippocampal formation2.19
2.52
1810014B01RikHYHypothalamus4.37
5.58
1810014B01RikLSXLateral septal complex0.35
0.33
1810014B01RikMBMidbrain0.38
0.7
1810014B01RikMYMedulla1.26
1.53
1810014B01RikOLFOlfactory bulb1.49
1.36
1810014B01RikPPons0.31
0.57
1810014B01RikPALPallidum0.27
0.55
1810014B01RikRHPRetrohippocampal region1.29
1.66
1810014B01RiksAMYStriatum-like amygdalar nuclei0.1
0.14
1810014B01RikSTRStriatum0.28
0.3
1810014B01RikSTRdStriatum dorsal region0.29
0.33
1810014B01RikSTRvStriatum ventral region0.27
0.24
1810014B01RikTHThalamus0.73
1
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