AutismKB 2.0

Annotation Detail for C2orf42


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Basic Information Top
Gene Symbol:C2orf42 ( FLJ20558 )
Gene Full Name: chromosome 2 open reading frame 42
Band: 2p13.3
Quick LinksEntrez ID:54980; OMIM: NA; Uniprot ID:CB042_HUMAN; ENSEMBL ID: ENSG00000115998; HGNC ID: 26056
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 
fetus17 / 56401230
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult40 / 193912120
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal163 / 336030748
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites4 / 4001599
bladder0 / 297570 
blood2 / 12347816
bone2 / 7165527
bone marrow0 / 488010 
brain43 / 110098939
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus1 / 2020949
eye4 / 21105418
heart1 / 8962611
intestine3 / 23447212
kidney8 / 21177737
larynx0 / 241450 
liver1 / 2077434
lung11 / 33697432
lymph0 / 442700 
lymph node3 / 9161032
mammary gland1 / 1532716
mouth4 / 6705259
muscle1 / 1077159
nerve1 / 1576863
ovary2 / 10205119
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate7 / 18934536
salivary gland0 / 201550 
skin5 / 21057423
spleen7 / 53952129
stomach1 / 9661910
testis62 / 330442187
thymus6 / 8113173
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus11 / 23287847
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219128_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.55
Adipocyte5.9
AdrenalCortex6.7
Adrenalgland5.4
Amygdala6.7
Appendix6.4
AtrioventricularNode4.9
BDCA4+_DentriticCells7.65
Bonemarrow6.45
BronchialEpithelialCells6.2
CD105+_Endothelial6.5
CD14+_Monocytes6.8
CD19+_BCells(neg._sel.)18.05
CD33+_Myeloid17.15
CD34+13.85
CD4+_Tcells16
CD56+_NKCells31.35
CD71+_EarlyErythroid5.9
CD8+_Tcells15.25
CardiacMyocytes7.7
Caudatenucleus8.2
Cerebellum8.6
CerebellumPeduncles7.3
CiliaryGanglion4.5
CingulateCortex6.45
Colorectaladenocarcinoma6.45
DorsalRootGanglion5
FetalThyroid6.7
Fetalbrain6.4
Fetalliver5.55
Fetallung5.35
GlobusPallidus5.7
Heart8.05
Hypothalamus7.25
Kidney5.25
Leukemia_chronicMyelogenousK-5625.65
Leukemia_promyelocytic-HL-605.65
Leukemialymphoblastic(MOLT-4)5.05
Liver8.65
Lung11.25
Lymphnode7.45
Lymphoma_burkitts(Daudi)9
Lymphoma_burkitts(Raji)8.9
MedullaOblongata6.5
OccipitalLobe5.65
OlfactoryBulb5.1
Ovary4.25
Pancreas5.1
PancreaticIslet6.65
ParietalLobe6.8
Pituitary15.15
Placenta8.4
Pons6.05
PrefrontalCortex10.35
Prostate7.5
Salivarygland5.05
SkeletalMuscle7.85
Skin4.95
SmoothMuscle7.25
Spinalcord6.85
SubthalamicNucleus5.75
SuperiorCervicalGanglion7.7
TemporalLobe5.8
Testis370.7
TestisGermCell187.65
TestisIntersitial192
TestisLeydigCell76.95
TestisSeminiferousTubule60.4
Thalamus6.85
Thymus6.8
Thyroid8.15
Tongue6.35
Tonsil6.25
Trachea5.55
TrigeminalGanglion6.75
Uterus5.3
UterusCorpus5.85
WholeBlood7.9
Wholebrain6.75
colon6.5
pineal_day11.22
pineal_night8.4
retina11.875
small_intestine6.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7_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
Amygdala5.41 ± 0.35
Basal Forebrain5.19 ± 0.23
Basal Part of Pons5.09 ± 0.33
Cerebellar Cortex5.37 ± 0.19
Cerebellar Nuclei5 ± 0.27
Claustrum5.14 ± 0.43
Epithalamus5.37 ± 0.32
Frontal Lobe4.85 ± 0.38
Globus Pallidus5 ± 0.42
Hypothalamus4.77 ± 0.22
Insula5.07 ± 0.35
Limbic Lobe5.05 ± 0.39
Mesencephalon5.02 ± 0.44
Myelencephalon4.98 ± 0.42
Occipital Lobe5.3 ± 0.36
Parietal Lobe5.02 ± 0.35
Pontine Tegmentum5.01 ± 0.41
Striatum5.11 ± 0.41
Subthalamus4.26 ± 0.53
Temporal Lobe4.96 ± 0.36
Thalamus4.92 ± 0.32
White Matter5.75 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
C87436CBCerebellum10.59
12.69
C87436CTXCerebral cortex20.33
14.76
C87436HIPHippocampal region15.66
15.35
C87436HPFHippocampal formation20.76
18.25
C87436HYHypothalamus17.63
14.02
C87436LSXLateral septal complex6.64
5.43
C87436MBMidbrain20.58
20.19
C87436MYMedulla35.21
43.17
C87436OLFOlfactory bulb27.62
21.66
C87436PPons26.33
30.19
C87436PALPallidum11.38
9.84
C87436RHPRetrohippocampal region31.94
24.22
C87436sAMYStriatum-like amygdalar nuclei6.62
4.91
C87436STRStriatum8.06
6.06
C87436STRdStriatum dorsal region5.32
3.82
C87436STRvStriatum ventral region19.41
14.1
C87436THThalamus11.54
9.85
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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