AutismKB 2.0

Annotation Detail for C12orf49


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C12orf49 ( FLJ21415 )
Gene Full Name: chromosome 12 open reading frame 49
Band: 12q24.22
Quick LinksEntrez ID:79794; OMIM: NA; Uniprot ID:CL049_HUMAN; ENSEMBL ID: ENSG00000111412; HGNC ID: 26128
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 body2 / 7076128
blastocyst3 / 6231948
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
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) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor11 / 26384541
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia3 / 9725030
normal67 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor6 / 12494948
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain22 / 110098919
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine9 / 23447238
kidney9 / 21177742
larynx1 / 2414541
liver1 / 2077434
lung5 / 33697414
lymph1 / 4427022
lymph node4 / 9161043
mammary gland8 / 15327152
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate5 / 18934526
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218867_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.05
Adipocyte3.85
AdrenalCortex4
Adrenalgland3.3
Amygdala4.15
Appendix4.05
AtrioventricularNode3
BDCA4+_DentriticCells4.7
Bonemarrow3.85
BronchialEpithelialCells3.9
CD105+_Endothelial3.95
CD14+_Monocytes4.2
CD19+_BCells(neg._sel.)6.8
CD33+_Myeloid5.1
CD34+5.1
CD4+_Tcells4.35
CD56+_NKCells11.4
CD71+_EarlyErythroid3.65
CD8+_Tcells3.8
CardiacMyocytes4.9
Caudatenucleus3.5
Cerebellum3.2
CerebellumPeduncles4.4
CiliaryGanglion2.75
CingulateCortex3.95
Colorectaladenocarcinoma3.9
DorsalRootGanglion3.05
FetalThyroid3.95
Fetalbrain3.95
Fetalliver3.4
Fetallung3.3
GlobusPallidus2.85
Heart4.9
Hypothalamus4.35
Kidney3.15
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.45
Leukemialymphoblastic(MOLT-4)3.15
Liver5.1
Lung4.35
Lymphnode3.4
Lymphoma_burkitts(Daudi)5
Lymphoma_burkitts(Raji)5.4
MedullaOblongata3.6
OccipitalLobe3.55
OlfactoryBulb3.1
Ovary2.6
Pancreas3.1
PancreaticIslet4.15
ParietalLobe4.05
Pituitary4.55
Placenta4.1
Pons3.7
PrefrontalCortex4.95
Prostate4.65
Salivarygland3.1
SkeletalMuscle4.35
Skin2.95
SmoothMuscle4.45
Spinalcord4.2
SubthalamicNucleus3.55
SuperiorCervicalGanglion4.8
TemporalLobe3.55
Testis3.4
TestisGermCell3.3
TestisIntersitial3.3
TestisLeydigCell3.85
TestisSeminiferousTubule3.4
Thalamus4
Thymus3.15
Thyroid5
Tongue3.8
Tonsil3.8
Trachea3.3
TrigeminalGanglion4.05
Uterus3.25
UterusCorpus3.45
WholeBlood4.35
Wholebrain3.4
colon3.95
pineal_day4.86
pineal_night4.8
retina4.8
small_intestine3.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P107528
  • 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
Amygdala4.99 ± 0.47
Basal Forebrain5.38 ± 0.4
Basal Part of Pons5.48 ± 0.24
Cerebellar Cortex4.93 ± 0.32
Cerebellar Nuclei5.76 ± 0.45
Claustrum5.16 ± 0.78
Epithalamus4.9 ± 0.7
Frontal Lobe5.36 ± 0.41
Globus Pallidus5.77 ± 0.29
Hypothalamus5.41 ± 0.71
Insula4.82 ± 0.53
Limbic Lobe5.22 ± 0.54
Mesencephalon5.27 ± 0.53
Myelencephalon5.25 ± 0.5
Occipital Lobe5.2 ± 0.44
Parietal Lobe5.41 ± 0.42
Pontine Tegmentum5.26 ± 0.56
Striatum5.36 ± 0.43
Subthalamus5.36 ± 0.58
Temporal Lobe5.29 ± 0.39
Thalamus5.33 ± 0.37
White Matter5.09 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2410131K14RikCBCerebellum25.67
32.04
2410131K14RikCTXCerebral cortex68.72
50.4
2410131K14RikHIPHippocampal region40.26
43.86
2410131K14RikHPFHippocampal formation42.42
40.22
2410131K14RikHYHypothalamus47.62
36.07
2410131K14RikLSXLateral septal complex28.69
20.99
2410131K14RikMBMidbrain33.96
29.38
2410131K14RikMYMedulla37.84
40.09
2410131K14RikOLFOlfactory bulb68.05
54.92
2410131K14RikPPons38.51
39.16
2410131K14RikPALPallidum56.58
51.47
2410131K14RikRHPRetrohippocampal region48.19
35.95
2410131K14RiksAMYStriatum-like amygdalar nuclei52.8
38.85
2410131K14RikSTRStriatum60.85
43.23
2410131K14RikSTRdStriatum dorsal region62.78
44.45
2410131K14RikSTRvStriatum ventral region65.38
45.06
2410131K14RikTHThalamus53.44
42.79
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved