AutismKB 2.0

Annotation Detail for C22orf46


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Basic Information Top
Gene Symbol:C22orf46 ( FLJ23584 )
Gene Full Name: chromosome 22 open reading frame 46
Band: 22q13.2
Quick LinksEntrez ID:79640; OMIM: NA; Uniprot ID:CV046_HUMAN; ENSEMBL ID: ENSG00000184208; HGNC ID: 26294
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
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult38 / 193912119
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal34 / 336030710
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor8 / 12494964
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain15 / 110098913
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine4 / 23447217
kidney3 / 21177714
larynx2 / 2414582
liver1 / 2077434
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland1 / 2015549
skin9 / 21057442
spleen0 / 539520 
stomach0 / 966190 
testis7 / 33044221
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219309_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.75
Adipocyte5.55
AdrenalCortex4.8
Adrenalgland3.9
Amygdala4.95
Appendix4.65
AtrioventricularNode3.55
BDCA4+_DentriticCells5.1
Bonemarrow4.55
BronchialEpithelialCells4.7
CD105+_Endothelial4.5
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid5.8
CD34+5.8
CD4+_Tcells5
CD56+_NKCells5
CD71+_EarlyErythroid4.25
CD8+_Tcells4.65
CardiacMyocytes6.35
Caudatenucleus4.3
Cerebellum4.2
CerebellumPeduncles5.35
CiliaryGanglion3.25
CingulateCortex5.25
Colorectaladenocarcinoma4.65
DorsalRootGanglion3.55
FetalThyroid4.35
Fetalbrain4.55
Fetalliver4
Fetallung3.65
GlobusPallidus3.45
Heart6.1
Hypothalamus5
Kidney3.75
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)3.8
Liver6.1
Lung4.95
Lymphnode3.95
Lymphoma_burkitts(Daudi)6.15
Lymphoma_burkitts(Raji)6.4
MedullaOblongata4.35
OccipitalLobe4.15
OlfactoryBulb4.05
Ovary3.05
Pancreas3.6
PancreaticIslet4.9
ParietalLobe4.9
Pituitary5.4
Placenta4.6
Pons4.35
PrefrontalCortex5.7
Prostate5.35
Salivarygland3.65
SkeletalMuscle6.65
Skin3.6
SmoothMuscle6.2
Spinalcord4.95
SubthalamicNucleus4.2
SuperiorCervicalGanglion5.2
TemporalLobe4.2
Testis3.95
TestisGermCell4.35
TestisIntersitial4.2
TestisLeydigCell4.5
TestisSeminiferousTubule3.95
Thalamus4.7
Thymus4.1
Thyroid5.75
Tongue4.8
Tonsil5.45
Trachea4.35
TrigeminalGanglion4.65
Uterus3.75
UterusCorpus4.15
WholeBlood5
Wholebrain3.9
colon4.55
pineal_day5.64
pineal_night5.54
retina5.825
small_intestine4.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P132341
  • 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
Amygdala3.94 ± 0.5
Basal Forebrain4.26 ± 0.63
Basal Part of Pons4.2 ± 0.55
Cerebellar Cortex3.81 ± 0.53
Cerebellar Nuclei4.51 ± 0.45
Claustrum4.41 ± 0.77
Epithalamus4.67 ± 0.57
Frontal Lobe4.03 ± 0.54
Globus Pallidus5.23 ± 0.29
Hypothalamus4.1 ± 0.45
Insula3.87 ± 0.66
Limbic Lobe4.08 ± 0.72
Mesencephalon4.16 ± 0.69
Myelencephalon4.24 ± 0.61
Occipital Lobe4.31 ± 0.69
Parietal Lobe4.22 ± 0.58
Pontine Tegmentum4.08 ± 0.6
Striatum4.29 ± 0.48
Subthalamus4.02 ± 0.48
Temporal Lobe4.06 ± 0.67
Thalamus4.2 ± 0.58
White Matter5.26 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4930407I10RikCBCerebellum2.94
3.72
4930407I10RikCTXCerebral cortex2.08
1.91
4930407I10RikHIPHippocampal region0.95
1.08
4930407I10RikHPFHippocampal formation1
1.01
4930407I10RikHYHypothalamus0.22
0.29
4930407I10RikLSXLateral septal complex5.01
3.67
4930407I10RikMBMidbrain1.11
1.58
4930407I10RikMYMedulla3.07
3.61
4930407I10RikOLFOlfactory bulb3.16
3.19
4930407I10RikPPons0.96
1.11
4930407I10RikPALPallidum1.27
1.21
4930407I10RikRHPRetrohippocampal region1.03
0.85
4930407I10RiksAMYStriatum-like amygdalar nuclei0.05
0.04
4930407I10RikSTRStriatum1.24
1.17
4930407I10RikSTRdStriatum dorsal region0.88
1.19
4930407I10RikSTRvStriatum ventral region1.94
1.1
4930407I10RikTHThalamus1.16
1.23
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


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