AutismKB 2.0

Annotation Detail for C2orf56


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Basic Information Top
Gene Symbol:C2orf56 ( - )
Gene Full Name: chromosome 2 open reading frame 56
Band: 2p22.2
Quick LinksEntrez ID:55471; OMIM: NA; Uniprot ID:MIDA_HUMAN; ENSEMBL ID: ENSG00000003509; HGNC ID:
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
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult50 / 193912125
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor18 / 26384568
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal125 / 336030737
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor3 / 12494924
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone2 / 7165527
bone marrow4 / 4880181
brain47 / 110098942
cervix1 / 4817120
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye4 / 21105418
heart3 / 8962633
intestine0 / 2344720 
kidney8 / 21177737
larynx0 / 241450 
liver6 / 20774328
lung9 / 33697426
lymph0 / 442700 
lymph node3 / 9161032
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta15 / 28082553
prostate2 / 18934510
salivary gland1 / 2015549
skin3 / 21057414
spleen7 / 53952129
stomach5 / 9661951
testis39 / 330442118
thymus6 / 8113173
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220943_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.6
Adipocyte9.15
AdrenalCortex16.55
Adrenalgland9
Amygdala9.3
Appendix14.05
AtrioventricularNode13.8
BDCA4+_DentriticCells9.25
Bonemarrow11.8
BronchialEpithelialCells8.95
CD105+_Endothelial20.25
CD14+_Monocytes11.2
CD19+_BCells(neg._sel.)9.8
CD33+_Myeloid11.45
CD34+11.9
CD4+_Tcells10.85
CD56+_NKCells10.5
CD71+_EarlyErythroid9.8
CD8+_Tcells8.55
CardiacMyocytes24.65
Caudatenucleus8.5
Cerebellum7.85
CerebellumPeduncles12.55
CiliaryGanglion12.1
CingulateCortex10.35
Colorectaladenocarcinoma9.65
DorsalRootGanglion12.3
FetalThyroid10.1
Fetalbrain9.05
Fetalliver8.55
Fetallung7
GlobusPallidus8.45
Heart21.25
Hypothalamus9.5
Kidney9.7
Leukemia_chronicMyelogenousK-5628.7
Leukemia_promyelocytic-HL-608.45
Leukemialymphoblastic(MOLT-4)6.9
Liver17
Lung10.35
Lymphnode7.6
Lymphoma_burkitts(Daudi)13.55
Lymphoma_burkitts(Raji)16.85
MedullaOblongata8.2
OccipitalLobe8.4
OlfactoryBulb7.25
Ovary8.45
Pancreas9
PancreaticIslet10.9
ParietalLobe11.65
Pituitary11.2
Placenta8.9
Pons10.05
PrefrontalCortex10.5
Prostate10.6
Salivarygland8.7
SkeletalMuscle18.85
Skin12.05
SmoothMuscle10.7
Spinalcord9.75
SubthalamicNucleus10.2
SuperiorCervicalGanglion18.35
TemporalLobe9.45
Testis8.05
TestisGermCell7.4
TestisIntersitial10.95
TestisLeydigCell11
TestisSeminiferousTubule8.35
Thalamus10.7
Thymus7
Thyroid10.95
Tongue13.2
Tonsil9.85
Trachea7.6
TrigeminalGanglion17
Uterus7.35
UterusCorpus11.2
WholeBlood10
Wholebrain7.2
colon9.35
pineal_day12.28
pineal_night14.34
retina11.475
small_intestine8.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P28318
  • 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
Amygdala9.2 ± 0.27
Basal Forebrain8.8 ± 0.2
Basal Part of Pons8.85 ± 0.23
Cerebellar Cortex9 ± 0.25
Cerebellar Nuclei8.76 ± 0.29
Claustrum9.07 ± 0.4
Epithalamus8.24 ± 0.28
Frontal Lobe8.77 ± 0.32
Globus Pallidus8.37 ± 0.13
Hypothalamus8.74 ± 0.33
Insula8.78 ± 0.21
Limbic Lobe9.15 ± 0.34
Mesencephalon8.86 ± 0.35
Myelencephalon8.81 ± 0.27
Occipital Lobe9.2 ± 0.37
Parietal Lobe8.92 ± 0.31
Pontine Tegmentum8.81 ± 0.29
Striatum8.9 ± 0.29
Subthalamus8.79 ± 0.06
Temporal Lobe8.84 ± 0.28
Thalamus8.67 ± 0.18
White Matter8.75 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2410091C18RikCBCerebellum19.99
27.3
2410091C18RikCTXCerebral cortex37.24
29.06
2410091C18RikHIPHippocampal region23.33
26.3
2410091C18RikHPFHippocampal formation24.03
23.95
2410091C18RikHYHypothalamus16.89
13.7
2410091C18RikLSXLateral septal complex10.05
8.32
2410091C18RikMBMidbrain19.24
18.47
2410091C18RikMYMedulla37.66
40.98
2410091C18RikOLFOlfactory bulb29.33
23.52
2410091C18RikPPons18.87
20.59
2410091C18RikPALPallidum18.7
17.42
2410091C18RikRHPRetrohippocampal region26.39
21.5
2410091C18RiksAMYStriatum-like amygdalar nuclei7.23
5.46
2410091C18RikSTRStriatum17.28
14.02
2410091C18RikSTRdStriatum dorsal region12.95
9.93
2410091C18RikSTRvStriatum ventral region45.17
36.99
2410091C18RikTHThalamus16.41
16.04
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00095544 19 270 288 DHVEVCPDAGVIIEELSQR Peptide Atlas

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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