AutismKB 2.0

Annotation Detail for C5orf42


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Basic Information Top
Gene Symbol:C5orf42 ( DKFZp686K02105,FLJ13231,FLJ21126 )
Gene Full Name: chromosome 5 open reading frame 42
Band: 5p13.2
Quick LinksEntrez ID:65250; OMIM: NA; Uniprot ID:B7ZLV7_HUMAN; ENSEMBL ID: ENSG00000197603; HGNC ID: 25801
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
blastocyst0 / 623190 
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult44 / 193912122
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
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor11 / 13630280
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal87 / 336030725
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
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 
blood2 / 12347816
bone2 / 7165527
bone marrow3 / 4880161
brain20 / 110098918
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx1 / 2414541
liver9 / 20774343
lung7 / 33697420
lymph0 / 442700 
lymph node3 / 9161032
mammary gland6 / 15327139
mouth4 / 6705259
muscle1 / 1077159
nerve1 / 1576863
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis14 / 33044242
thymus0 / 811310 
thyroid7 / 47473147
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219381_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte5.6
AdrenalCortex6.7
Adrenalgland5.1
Amygdala6.1
Appendix7.65
AtrioventricularNode4.7
BDCA4+_DentriticCells6.05
Bonemarrow6.6
BronchialEpithelialCells5.5
CD105+_Endothelial5.8
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)6.05
CD33+_Myeloid7.1
CD34+7.35
CD4+_Tcells5.9
CD56+_NKCells6.65
CD71+_EarlyErythroid5.4
CD8+_Tcells5.25
CardiacMyocytes7.95
Caudatenucleus5.85
Cerebellum4.7
CerebellumPeduncles7.05
CiliaryGanglion4.6
CingulateCortex6
Colorectaladenocarcinoma5.75
DorsalRootGanglion5.4
FetalThyroid5.6
Fetalbrain6.1
Fetalliver5.05
Fetallung4.65
GlobusPallidus4.45
Heart8.45
Hypothalamus6.4
Kidney5.45
Leukemia_chronicMyelogenousK-5625.15
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)4.6
Liver8.2
Lung6.2
Lymphnode4.75
Lymphoma_burkitts(Daudi)7.45
Lymphoma_burkitts(Raji)8.45
MedullaOblongata5.6
OccipitalLobe5.2
OlfactoryBulb4.45
Ovary4.1
Pancreas4.8
PancreaticIslet6.2
ParietalLobe6.2
Pituitary6.85
Placenta5.7
Pons5.7
PrefrontalCortex7.45
Prostate6.6
Salivarygland4.65
SkeletalMuscle7.5
Skin4.85
SmoothMuscle6.5
Spinalcord6.15
SubthalamicNucleus5.6
SuperiorCervicalGanglion11
TemporalLobe5.35
Testis4.95
TestisGermCell4.6
TestisIntersitial4.95
TestisLeydigCell5.75
TestisSeminiferousTubule4.85
Thalamus5.9
Thymus4.4
Thyroid7.2
Tongue5.95
Tonsil5.65
Trachea4.85
TrigeminalGanglion8.25
Uterus4.7
UterusCorpus6.05
WholeBlood6.2
Wholebrain4.6
colon5.75
pineal_day7.48
pineal_night6.96
retina6.95
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P226009
  • 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
Amygdala8.8 ± 0.42
Basal Forebrain8.48 ± 0.17
Basal Part of Pons8.25 ± 0.3
Cerebellar Cortex8.5 ± 0.31
Cerebellar Nuclei8.09 ± 0.25
Claustrum8.91 ± 0.49
Epithalamus8.57 ± 0.34
Frontal Lobe8.28 ± 0.31
Globus Pallidus8.45 ± 0.16
Hypothalamus8.31 ± 0.24
Insula8.31 ± 0.27
Limbic Lobe8.6 ± 0.36
Mesencephalon8.52 ± 0.34
Myelencephalon8.46 ± 0.33
Occipital Lobe8.77 ± 0.41
Parietal Lobe8.44 ± 0.33
Pontine Tegmentum8.39 ± 0.33
Striatum8.68 ± 0.34
Subthalamus8.3 ± 0.08
Temporal Lobe8.34 ± 0.29
Thalamus8.36 ± 0.22
White Matter8.82 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2410089E03RikCBCerebellum40.5
39.06
2410089E03RikCTXCerebral cortex89.96
56.26
2410089E03RikHIPHippocampal region52.89
55.6
2410089E03RikHPFHippocampal formation65.58
56.85
2410089E03RikHYHypothalamus82.92
57.33
2410089E03RikLSXLateral septal complex28.66
16.67
2410089E03RikMBMidbrain53.71
39.29
2410089E03RikMYMedulla50.97
43.22
2410089E03RikOLFOlfactory bulb85.42
64.71
2410089E03RikPPons49.99
39.42
2410089E03RikPALPallidum48.84
36.15
2410089E03RikRHPRetrohippocampal region89.99
60.14
2410089E03RiksAMYStriatum-like amygdalar nuclei89.01
58.67
2410089E03RikSTRStriatum38.99
24.76
2410089E03RikSTRdStriatum dorsal region30.8
19.22
2410089E03RikSTRvStriatum ventral region34.83
22.34
2410089E03RikTHThalamus44.5
32.79
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


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