AutismKB 2.0

Annotation Detail for C12orf4


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Basic Information Top
Gene Symbol:C12orf4 ( FLJ21158,FLJ23899 )
Gene Full Name: chromosome 12 open reading frame 4
Band: 12p13.32
Quick LinksEntrez ID:57102; OMIM: NA; Uniprot ID:CL004_HUMAN; ENSEMBL ID: ENSG00000047621; HGNC ID: 1184
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 
blastocyst2 / 6231932
fetus49 / 56401286
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult92 / 193912147
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor16 / 26384560
glioma3 / 10688328
head and neck tumor18 / 136302132
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal160 / 336030747
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites4 / 4001599
bladder1 / 2975733
blood3 / 12347824
bone2 / 7165527
bone marrow4 / 4880181
brain54 / 110098949
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye12 / 21105456
heart7 / 8962678
intestine2 / 2344728
kidney7 / 21177733
larynx1 / 2414541
liver5 / 20774324
lung9 / 33697426
lymph0 / 442700 
lymph node4 / 9161043
mammary gland10 / 15327165
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx15 / 41328362
pituitary gland1 / 1658560
placenta6 / 28082521
prostate1 / 1893455
salivary gland0 / 201550 
skin7 / 21057433
spleen3 / 5395255
stomach1 / 9661910
testis24 / 33044272
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218374_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11
Adipocyte6.1
AdrenalCortex6.9
Adrenalgland5.3
Amygdala5.9
Appendix8.7
AtrioventricularNode5
BDCA4+_DentriticCells9.35
Bonemarrow6.3
BronchialEpithelialCells5.75
CD105+_Endothelial6.7
CD14+_Monocytes6.75
CD19+_BCells(neg._sel.)7.15
CD33+_Myeloid7.3
CD34+7.1
CD4+_Tcells6.5
CD56+_NKCells7.4
CD71+_EarlyErythroid23.6
CD8+_Tcells6.75
CardiacMyocytes8.5
Caudatenucleus5.5
Cerebellum5.2
CerebellumPeduncles7.75
CiliaryGanglion7.05
CingulateCortex7.05
Colorectaladenocarcinoma6.05
DorsalRootGanglion5.25
FetalThyroid6
Fetalbrain5.9
Fetalliver5.45
Fetallung4.7
GlobusPallidus4.6
Heart8.4
Hypothalamus6.75
Kidney5.65
Leukemia_chronicMyelogenousK-5625.6
Leukemia_promyelocytic-HL-605.5
Leukemialymphoblastic(MOLT-4)5.3
Liver10.2
Lung6.15
Lymphnode5.2
Lymphoma_burkitts(Daudi)8.35
Lymphoma_burkitts(Raji)9.55
MedullaOblongata13.6
OccipitalLobe5.75
OlfactoryBulb4.95
Ovary4.8
Pancreas5
PancreaticIslet6.55
ParietalLobe6.95
Pituitary7.15
Placenta5.75
Pons6.05
PrefrontalCortex7.55
Prostate6.75
Salivarygland5.2
SkeletalMuscle14
Skin7
SmoothMuscle6.9
Spinalcord6.7
SubthalamicNucleus7
SuperiorCervicalGanglion11
TemporalLobe7.9
Testis5.35
TestisGermCell6.05
TestisIntersitial6.8
TestisLeydigCell8
TestisSeminiferousTubule8.05
Thalamus6.4
Thymus4.3
Thyroid7.15
Tongue7.05
Tonsil6.1
Trachea5.15
TrigeminalGanglion6.45
Uterus4.95
UterusCorpus14.75
WholeBlood6.65
Wholebrain4.6
colon6.15
pineal_day8.58
pineal_night8.66
retina7.375
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P25433
  • 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
Amygdala8.3 ± 0.19
Basal Forebrain8.16 ± 0.13
Basal Part of Pons8.36 ± 0.25
Cerebellar Cortex8.23 ± 0.29
Cerebellar Nuclei8.26 ± 0.33
Claustrum8.48 ± 0.34
Epithalamus8.1 ± 0.29
Frontal Lobe8.25 ± 0.27
Globus Pallidus7.88 ± 0.18
Hypothalamus8.08 ± 0.22
Insula8.25 ± 0.23
Limbic Lobe8.41 ± 0.32
Mesencephalon8.29 ± 0.33
Myelencephalon8.23 ± 0.26
Occipital Lobe8.58 ± 0.27
Parietal Lobe8.39 ± 0.21
Pontine Tegmentum8.26 ± 0.25
Striatum8.19 ± 0.23
Subthalamus8.36 ± 0.24
Temporal Lobe8.28 ± 0.2
Thalamus8.33 ± 0.32
White Matter8.15 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D6Wsu163eCBCerebellum88.11
100
D6Wsu163eCTXCerebral cortex100
100
D6Wsu163eHIPHippocampal region98.96
100
D6Wsu163eHPFHippocampal formation100
100
D6Wsu163eHYHypothalamus23.38
23.79
D6Wsu163eLSXLateral septal complex21.48
19.86
D6Wsu163eMBMidbrain26.67
32.4
D6Wsu163eMYMedulla23.83
35.99
D6Wsu163eOLFOlfactory bulb67.1
81.1
D6Wsu163ePPons24.41
33.34
D6Wsu163ePALPallidum24.08
26.85
D6Wsu163eRHPRetrohippocampal region100
100
D6Wsu163esAMYStriatum-like amygdalar nuclei74.6
72.54
D6Wsu163eSTRStriatum60.73
57.81
D6Wsu163eSTRdStriatum dorsal region67.51
64.49
D6Wsu163eSTRvStriatum ventral region44.21
41.42
D6Wsu163eTHThalamus51.2
60.07
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