AutismKB 2.0

Annotation Detail for C5orf44


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Basic Information Top
Gene Symbol:C5orf44 ( FLJ13611,FLJ26957,MGC48585 )
Gene Full Name: chromosome 5 open reading frame 44
Band: 5q12.3
Quick LinksEntrez ID:80006; OMIM: NA; Uniprot ID:CE044_HUMAN; ENSEMBL ID: ENSG00000113597; 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 body3 / 7076142
blastocyst1 / 6231916
fetus26 / 56401246
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult57 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor2 / 17290115
gastrointestinal tumor6 / 11936950
germ cell tumor5 / 26384518
glioma4 / 10688337
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia5 / 9725051
normal142 / 336030742
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder2 / 2975767
blood5 / 12347840
bone2 / 7165527
bone marrow0 / 488010 
brain69 / 110098962
cervix0 / 481710 
connective tissue2 / 14925513
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus2 / 2020998
eye8 / 21105437
heart5 / 8962655
intestine3 / 23447212
kidney11 / 21177751
larynx0 / 241450 
liver5 / 20774324
lung4 / 33697411
lymph1 / 4427022
lymph node3 / 9161032
mammary gland8 / 15327152
mouth1 / 6705214
muscle5 / 10771546
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid3 / 20539146
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta3 / 28082510
prostate3 / 18934515
salivary gland0 / 201550 
skin14 / 21057466
spleen1 / 5395218
stomach7 / 9661972
testis8 / 33044224
thymus6 / 8113173
thyroid1 / 4747321
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus8 / 23287834
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218674_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.75
Adipocyte9.4
AdrenalCortex14.5
Adrenalgland9.75
Amygdala59.05
Appendix16.2
AtrioventricularNode14.5
BDCA4+_DentriticCells10.15
Bonemarrow11.1
BronchialEpithelialCells8.55
CD105+_Endothelial9.95
CD14+_Monocytes11.35
CD19+_BCells(neg._sel.)9.25
CD33+_Myeloid15.95
CD34+11.65
CD4+_Tcells8.9
CD56+_NKCells11.1
CD71+_EarlyErythroid9.35
CD8+_Tcells8.3
CardiacMyocytes19.85
Caudatenucleus9.45
Cerebellum8.5
CerebellumPeduncles12.2
CiliaryGanglion13.25
CingulateCortex10.8
Colorectaladenocarcinoma8.95
DorsalRootGanglion9.65
FetalThyroid10.3
Fetalbrain9.15
Fetalliver9
Fetallung6.95
GlobusPallidus8.95
Heart19.2
Hypothalamus10.7
Kidney9.15
Leukemia_chronicMyelogenousK-5628.75
Leukemia_promyelocytic-HL-608.75
Leukemialymphoblastic(MOLT-4)7.15
Liver15.65
Lung10.2
Lymphnode8.1
Lymphoma_burkitts(Daudi)13.55
Lymphoma_burkitts(Raji)15.45
MedullaOblongata8.6
OccipitalLobe10.2
OlfactoryBulb7.55
Ovary9.6
Pancreas8.75
PancreaticIslet10.55
ParietalLobe13.55
Pituitary12.9
Placenta8.6
Pons10.9
PrefrontalCortex12.7
Prostate12.5
Salivarygland9.25
SkeletalMuscle18.35
Skin20.95
SmoothMuscle10.6
Spinalcord10.75
SubthalamicNucleus10.8
SuperiorCervicalGanglion20.8
TemporalLobe10.15
Testis8.35
TestisGermCell7.25
TestisIntersitial8.7
TestisLeydigCell10.2
TestisSeminiferousTubule8.45
Thalamus12.55
Thymus6.95
Thyroid15.95
Tongue12.2
Tonsil10.2
Trachea7.85
TrigeminalGanglion14.55
Uterus7.85
UterusCorpus10.9
WholeBlood10.55
Wholebrain7.05
colon13.35
pineal_day33
pineal_night30.54
retina12.3
small_intestine9.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6993_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
Amygdala2.76 ± 1.17
Basal Forebrain2.17 ± 0.57
Basal Part of Pons1.89 ± 0.42
Cerebellar Cortex2.05 ± 0.87
Cerebellar Nuclei2.63 ± 0.79
Claustrum3.04 ± 1.43
Epithalamus2.04 ± 0.67
Frontal Lobe2.19 ± 0.81
Globus Pallidus2.9 ± 0.78
Hypothalamus2.31 ± 0.68
Insula2.26 ± 0.69
Limbic Lobe2.1 ± 0.68
Mesencephalon2.33 ± 0.75
Myelencephalon2.28 ± 0.69
Occipital Lobe2.36 ± 0.74
Parietal Lobe2.22 ± 0.81
Pontine Tegmentum2.37 ± 0.98
Striatum2.6 ± 0.63
Subthalamus2.31 ± 0.68
Temporal Lobe2.2 ± 0.71
Thalamus2.21 ± 0.75
White Matter2.67 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2410002O22RikCBCerebellum6.5
7.38
2410002O22RikCTXCerebral cortex1.46
1.45
2410002O22RikHIPHippocampal region3.46
3.53
2410002O22RikHPFHippocampal formation2.3
2.19
2410002O22RikHYHypothalamus0.09
0.13
2410002O22RikLSXLateral septal complex0.06
0
2410002O22RikMBMidbrain1.05
1.32
2410002O22RikMYMedulla3.09
3.86
2410002O22RikOLFOlfactory bulb1.17
2.6
2410002O22RikPPons1.62
2.1
2410002O22RikPALPallidum0.27
0.31
2410002O22RikRHPRetrohippocampal region0.34
0.3
2410002O22RiksAMYStriatum-like amygdalar nuclei0.8
0.76
2410002O22RikSTRStriatum0.23
0.21
2410002O22RikSTRdStriatum dorsal region0.15
0.14
2410002O22RikSTRvStriatum ventral region0.23
0.17
2410002O22RikTHThalamus0.94
1.44
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00026612 28 110 137 LNLSASNAAVAELKPDCCIDDVIHHEVK 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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