AutismKB 2.0

Annotation Detail for C11orf49


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Basic Information Top
Gene Symbol:C11orf49 ( FLJ22210,MGC4707 )
Gene Full Name: chromosome 11 open reading frame 49
Band: 11p11.2
Quick LinksEntrez ID:79096; OMIM: NA; Uniprot ID:CK049_HUMAN; ENSEMBL ID: ENSG00000149179; HGNC ID: 28720
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 body7 / 7076198
blastocyst4 / 6231964
fetus24 / 56401242
neonate0 / 310970 
infant4 / 23620169
juvenile8 / 55556143
adult121 / 193912162
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 tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor19 / 26384572
glioma16 / 106883149
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor15 / 103127145
lymphoma4 / 7175555
non-neoplasia11 / 97250113
normal222 / 336030766
ovarian tumor8 / 76682104
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer10 / 10268097
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites3 / 4001574
bladder1 / 2975733
blood4 / 12347832
bone3 / 7165541
bone marrow6 / 48801122
brain112 / 1100989101
cervix3 / 4817162
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye11 / 21105452
heart2 / 8962622
intestine15 / 23447263
kidney14 / 21177766
larynx0 / 241450 
liver6 / 20774328
lung25 / 33697474
lymph2 / 4427045
lymph node9 / 9161098
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve3 / 15768190
ovary11 / 102051107
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta22 / 28082578
prostate11 / 18934558
salivary gland3 / 20155148
skin14 / 21057466
spleen0 / 539520 
stomach7 / 9661972
testis22 / 33044266
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus26 / 232878111
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203257_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts99.25
Adipocyte96.25
AdrenalCortex37.05
Adrenalgland109.85
Amygdala348.15
Appendix90.6
AtrioventricularNode36.6
BDCA4+_DentriticCells46.6
Bonemarrow109.3
BronchialEpithelialCells110.85
CD105+_Endothelial31
CD14+_Monocytes38
CD19+_BCells(neg._sel.)50.4
CD33+_Myeloid31.65
CD34+112.75
CD4+_Tcells42.5
CD56+_NKCells47.45
CD71+_EarlyErythroid31.15
CD8+_Tcells42.45
CardiacMyocytes74.55
Caudatenucleus221.4
Cerebellum187.75
CerebellumPeduncles223.15
CiliaryGanglion46.75
CingulateCortex293.35
Colorectaladenocarcinoma117.3
DorsalRootGanglion69.9
FetalThyroid176
Fetalbrain288.1
Fetalliver75.3
Fetallung98.8
GlobusPallidus143.6
Heart98.85
Hypothalamus418.6
Kidney123.25
Leukemia_chronicMyelogenousK-56247.4
Leukemia_promyelocytic-HL-6060.05
Leukemialymphoblastic(MOLT-4)91.5
Liver141.2
Lung290.6
Lymphnode80.35
Lymphoma_burkitts(Daudi)84.4
Lymphoma_burkitts(Raji)123.05
MedullaOblongata273.35
OccipitalLobe257.8
OlfactoryBulb94.65
Ovary53.6
Pancreas66.05
PancreaticIslet101.35
ParietalLobe358.7
Pituitary219.65
Placenta66.7
Pons227.5
PrefrontalCortex463.65
Prostate137.3
Salivarygland73.5
SkeletalMuscle128.4
Skin73.45
SmoothMuscle140.1
Spinalcord227.05
SubthalamicNucleus172.9
SuperiorCervicalGanglion72.7
TemporalLobe214.25
Testis259.65
TestisGermCell113.1
TestisIntersitial138.8
TestisLeydigCell182.05
TestisSeminiferousTubule197.35
Thalamus329.15
Thymus91.45
Thyroid214.65
Tongue88.4
Tonsil54.6
Trachea98.5
TrigeminalGanglion104.7
Uterus69.15
UterusCorpus72.5
WholeBlood40.1
Wholebrain476.2
colon120.5
pineal_day308.22
pineal_night323.52
retina150.1
small_intestine79.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P147605
  • 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
Amygdala8.51 ± 0.5
Basal Forebrain8.83 ± 0.25
Basal Part of Pons9.23 ± 0.28
Cerebellar Cortex8.65 ± 0.17
Cerebellar Nuclei8.72 ± 0.27
Claustrum8.42 ± 0.31
Epithalamus9.1 ± 0.34
Frontal Lobe9.13 ± 0.32
Globus Pallidus8.35 ± 0.43
Hypothalamus9.17 ± 0.23
Insula9.08 ± 0.24
Limbic Lobe8.9 ± 0.41
Mesencephalon8.85 ± 0.36
Myelencephalon8.9 ± 0.44
Occipital Lobe8.66 ± 0.37
Parietal Lobe8.94 ± 0.42
Pontine Tegmentum8.83 ± 0.4
Striatum8.7 ± 0.5
Subthalamus8.79 ± 0.69
Temporal Lobe9.06 ± 0.34
Thalamus9.02 ± 0.33
White Matter7.82 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1110051M20RikCBCerebellum1.28
1.99
1110051M20RikCTXCerebral cortex1.28
1.26
1110051M20RikHIPHippocampal region2.3
1.74
1110051M20RikHPFHippocampal formation1.7
1.19
1110051M20RikHYHypothalamus0.13
0.2
1110051M20RikLSXLateral septal complex0.09
0.1
1110051M20RikMBMidbrain0.89
1.8
1110051M20RikMYMedulla0.36
0.48
1110051M20RikOLFOlfactory bulb0.53
0.53
1110051M20RikPPons0.64
1.32
1110051M20RikPALPallidum0.06
0.06
1110051M20RikRHPRetrohippocampal region0.59
0.35
1110051M20RiksAMYStriatum-like amygdalar nuclei0.03
0
1110051M20RikSTRStriatum1.75
2.31
1110051M20RikSTRdStriatum dorsal region2.91
3.92
1110051M20RikSTRvStriatum ventral region0.19
0.23
1110051M20RikTHThalamus0.2
0.16
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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