AutismKB 2.0

Annotation Detail for C7orf43


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Basic Information Top
Gene Symbol:C7orf43 ( DKFZp761G0712,FLJ10925 )
Gene Full Name: chromosome 7 open reading frame 43
Band: 7q22.1
Quick LinksEntrez ID:55262; OMIM: NA; Uniprot ID:CG043_HUMAN; ENSEMBL ID: ENSG00000146826; HGNC ID: 25604
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 
blastocyst3 / 6231948
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult38 / 193912119
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia2 / 9725020
normal60 / 336030717
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
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 
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone0 / 716550 
bone marrow0 / 488010 
brain13 / 110098911
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine4 / 23447217
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph3 / 4427067
lymph node1 / 9161010
mammary gland3 / 15327119
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach2 / 9661920
testis8 / 33044224
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220659_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts52.25
Adipocyte55.35
AdrenalCortex78.85
Adrenalgland86.95
Amygdala72
Appendix85.95
AtrioventricularNode54.8
BDCA4+_DentriticCells89.85
Bonemarrow113
BronchialEpithelialCells43.4
CD105+_Endothelial62.05
CD14+_Monocytes84.9
CD19+_BCells(neg._sel.)96.45
CD33+_Myeloid130.55
CD34+71.4
CD4+_Tcells204.4
CD56+_NKCells91.5
CD71+_EarlyErythroid64.9
CD8+_Tcells116.1
CardiacMyocytes60.75
Caudatenucleus70.35
Cerebellum102.9
CerebellumPeduncles163.9
CiliaryGanglion53.6
CingulateCortex91.2
Colorectaladenocarcinoma100.75
DorsalRootGanglion58.35
FetalThyroid66.1
Fetalbrain101.3
Fetalliver74.95
Fetallung44.4
GlobusPallidus44.15
Heart106.1
Hypothalamus100.7
Kidney67.95
Leukemia_chronicMyelogenousK-56296.2
Leukemia_promyelocytic-HL-6067.1
Leukemialymphoblastic(MOLT-4)75.25
Liver70.55
Lung84.8
Lymphnode75.8
Lymphoma_burkitts(Daudi)86
Lymphoma_burkitts(Raji)109.2
MedullaOblongata99.7
OccipitalLobe59.7
OlfactoryBulb41.15
Ovary47.15
Pancreas58.3
PancreaticIslet78.45
ParietalLobe55.75
Pituitary78.45
Placenta86.3
Pons88
PrefrontalCortex94.9
Prostate87.4
Salivarygland73
SkeletalMuscle55.55
Skin43.1
SmoothMuscle63.85
Spinalcord116.15
SubthalamicNucleus53.55
SuperiorCervicalGanglion86.35
TemporalLobe84.15
Testis95.95
TestisGermCell72.85
TestisIntersitial70.2
TestisLeydigCell74.5
TestisSeminiferousTubule96.5
Thalamus126.7
Thymus72.8
Thyroid122.6
Tongue86.75
Tonsil80.9
Trachea71
TrigeminalGanglion65.65
Uterus36.3
UterusCorpus38.6
WholeBlood112.85
Wholebrain64.45
colon79.4
pineal_day105.34
pineal_night109.72
retina111.6
small_intestine82.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7180_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
Amygdala3.35 ± 0.8
Basal Forebrain2.6 ± 0.51
Basal Part of Pons2.53 ± 0.71
Cerebellar Cortex3.05 ± 0.58
Cerebellar Nuclei2.76 ± 0.51
Claustrum3.22 ± 0.92
Epithalamus2.46 ± 0.49
Frontal Lobe2.74 ± 0.68
Globus Pallidus2.85 ± 0.56
Hypothalamus2.67 ± 0.35
Insula2.35 ± 0.62
Limbic Lobe2.95 ± 0.68
Mesencephalon2.85 ± 0.71
Myelencephalon2.85 ± 0.61
Occipital Lobe2.82 ± 0.7
Parietal Lobe2.91 ± 0.73
Pontine Tegmentum2.8 ± 0.69
Striatum2.39 ± 0.65
Subthalamus3.73 ± 1.28
Temporal Lobe2.84 ± 0.58
Thalamus2.72 ± 0.61
White Matter2.47 ± 0.5
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC037034CBCerebellum57.36
100
BC037034CTXCerebral cortex100
100
BC037034HIPHippocampal region100
100
BC037034HPFHippocampal formation100
100
BC037034HYHypothalamus100
100
BC037034LSXLateral septal complex100
100
BC037034MBMidbrain99.11
100
BC037034MYMedulla48.92
71.15
BC037034OLFOlfactory bulb100
100
BC037034PPons71.14
100
BC037034PALPallidum100
100
BC037034RHPRetrohippocampal region100
100
BC037034sAMYStriatum-like amygdalar nuclei100
100
BC037034STRStriatum100
89.3
BC037034STRdStriatum dorsal region89.51
73.67
BC037034STRvStriatum ventral region100
92.79
BC037034THThalamus100
100
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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