AutismKB 2.0

Annotation Detail for C12orf51


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Basic Information Top
Gene Symbol:C12orf51 ( DKFZp586O1022,FLJ10510,FLJ30092,FLJ30208,FLJ34154,KIAA0614,MGC126531 )
Gene Full Name: chromosome 12 open reading frame 51
Band: 12q24.13
Quick LinksEntrez ID:283450; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000173064; 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 body1 / 7076114
blastocyst1 / 6231916
fetus66 / 564012117
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult249 / 1939121128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma9 / 82823108
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor9 / 26384534
glioma7 / 10688365
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia8 / 9584283
liver tumor0 / 963590 
lung tumor7 / 10312767
lymphoma4 / 7175555
non-neoplasia1 / 9725010
normal319 / 336030794
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder4 / 29757134
blood9 / 12347872
bone4 / 7165555
bone marrow3 / 4880161
brain153 / 1100989138
cervix1 / 4817120
connective tissue13 / 14925587
ear2 / 16212123
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye20 / 21105494
heart7 / 8962678
intestine6 / 23447225
kidney8 / 21177737
larynx4 / 24145165
liver2 / 2077439
lung32 / 33697494
lymph3 / 4427067
lymph node16 / 91610174
mammary gland13 / 15327184
mouth4 / 6705259
muscle3 / 10771527
nerve1 / 1576863
ovary5 / 10205148
pancreas15 / 21481269
parathyroid2 / 2053997
pharynx3 / 4132872
pituitary gland2 / 16585120
placenta11 / 28082539
prostate13 / 18934568
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach3 / 9661931
testis10 / 33044230
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211034_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts28.15
Adipocyte17.85
AdrenalCortex21.3
Adrenalgland15.6
Amygdala71.6
Appendix37
AtrioventricularNode15.25
BDCA4+_DentriticCells42
Bonemarrow30.5
BronchialEpithelialCells10.6
CD105+_Endothelial49.55
CD14+_Monocytes28.75
CD19+_BCells(neg._sel.)108.3
CD33+_Myeloid41.25
CD34+65.4
CD4+_Tcells61.95
CD56+_NKCells35.8
CD71+_EarlyErythroid442
CD8+_Tcells94
CardiacMyocytes24.7
Caudatenucleus51.35
Cerebellum134.15
CerebellumPeduncles109.9
CiliaryGanglion15.4
CingulateCortex81.55
Colorectaladenocarcinoma19.6
DorsalRootGanglion17.1
FetalThyroid57.55
Fetalbrain287
Fetalliver41.55
Fetallung29.8
GlobusPallidus19.8
Heart25.05
Hypothalamus236.25
Kidney15.9
Leukemia_chronicMyelogenousK-56224.95
Leukemia_promyelocytic-HL-6024.95
Leukemialymphoblastic(MOLT-4)22.25
Liver21.35
Lung37.45
Lymphnode22.85
Lymphoma_burkitts(Daudi)26.75
Lymphoma_burkitts(Raji)29.05
MedullaOblongata79.2
OccipitalLobe85.9
OlfactoryBulb18.3
Ovary12.65
Pancreas16.9
PancreaticIslet22.25
ParietalLobe52.55
Pituitary29.55
Placenta20
Pons45.1
PrefrontalCortex205.05
Prostate29.7
Salivarygland19.7
SkeletalMuscle25
Skin14.65
SmoothMuscle17.25
Spinalcord77.95
SubthalamicNucleus94.3
SuperiorCervicalGanglion24.7
TemporalLobe44.85
Testis32.8
TestisGermCell33.4
TestisIntersitial18.95
TestisLeydigCell23.05
TestisSeminiferousTubule21.1
Thalamus120.8
Thymus18.1
Thyroid33
Tongue20
Tonsil19.1
Trachea16.2
TrigeminalGanglion23.35
Uterus21.5
UterusCorpus18.55
WholeBlood23.2
Wholebrain76.9
colon23
pineal_day175.72
pineal_night150.84
retina44.825
small_intestine17.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P162702
  • 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
Amygdala8.78 ± 0.57
Basal Forebrain8.94 ± 0.25
Basal Part of Pons9.54 ± 0.31
Cerebellar Cortex9.59 ± 0.14
Cerebellar Nuclei9.25 ± 0.27
Claustrum9.21 ± 0.32
Epithalamus8.71 ± 0.43
Frontal Lobe9.33 ± 0.3
Globus Pallidus8.28 ± 0.44
Hypothalamus9.46 ± 0.32
Insula9.4 ± 0.3
Limbic Lobe9.18 ± 0.48
Mesencephalon9.1 ± 0.43
Myelencephalon9.09 ± 0.5
Occipital Lobe8.81 ± 0.6
Parietal Lobe9.17 ± 0.38
Pontine Tegmentum9.12 ± 0.39
Striatum8.62 ± 0.45
Subthalamus9.37 ± 0.31
Temporal Lobe9.33 ± 0.35
Thalamus9.11 ± 0.36
White Matter8.72 ± 0.51
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00027629 18 3258 3275 SCAHSEQTLSLTPAKPIR 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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