AutismKB 2.0

Annotation Detail for CIAO1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CIAO1 ( CIA1,WDR39 )
Gene Full Name: cytosolic iron-sulfur protein assembly 1
Band: 2q11.2
Quick LinksEntrez ID:9391; OMIM: 604333; Uniprot ID:CIAO1_HUMAN; ENSEMBL ID: ENSG00000144021; HGNC ID: 14280
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 body4 / 7076156
blastocyst11 / 62319176
fetus47 / 56401283
neonate0 / 310970 
infant4 / 23620169
juvenile2 / 5555635
adult159 / 193912181
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor17 / 94178180
cervical tumor6 / 34366174
chondrosarcoma4 / 8282348
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor31 / 263845117
glioma6 / 10688356
head and neck tumor11 / 13630280
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor8 / 9635983
lung tumor14 / 103127135
lymphoma8 / 71755111
non-neoplasia4 / 9725041
normal247 / 336030773
ovarian tumor11 / 76682143
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer7 / 10268068
retinoblastoma6 / 46356129
skin tumor24 / 124949192
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites6 / 40015149
bladder1 / 2975733
blood14 / 123478113
bone3 / 7165541
bone marrow0 / 488010 
brain113 / 1100989102
cervix6 / 48171124
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue26 / 215722120
esophagus1 / 2020949
eye17 / 21105480
heart5 / 8962655
intestine19 / 23447281
kidney12 / 21177756
larynx2 / 2414582
liver13 / 20774362
lung30 / 33697489
lymph5 / 44270112
lymph node3 / 9161032
mammary gland23 / 153271150
mouth6 / 6705289
muscle5 / 10771546
nerve0 / 157680 
ovary15 / 102051146
pancreas2 / 2148129
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta19 / 28082567
prostate9 / 18934547
salivary gland1 / 2015549
skin35 / 210574166
spleen3 / 5395255
stomach5 / 9661951
testis29 / 33044287
thymus5 / 8113161
thyroid4 / 4747384
tonsil1 / 1699958
trachea4 / 5241376
umbilical cord0 / 136800 
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203536_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts37.4
Adipocyte6.25
AdrenalCortex6.15
Adrenalgland8.85
Amygdala7.55
Appendix5.6
AtrioventricularNode3.9
BDCA4+_DentriticCells24.4
Bonemarrow7.05
BronchialEpithelialCells14.7
CD105+_Endothelial8.05
CD14+_Monocytes11.1
CD19+_BCells(neg._sel.)11.7
CD33+_Myeloid13.1
CD34+12.7
CD4+_Tcells13.15
CD56+_NKCells23.75
CD71+_EarlyErythroid5.15
CD8+_Tcells12.45
CardiacMyocytes7.75
Caudatenucleus4.35
Cerebellum5.55
CerebellumPeduncles7
CiliaryGanglion3.25
CingulateCortex5.95
Colorectaladenocarcinoma15.3
DorsalRootGanglion3.6
FetalThyroid6.55
Fetalbrain5.6
Fetalliver6.55
Fetallung7.1
GlobusPallidus3.65
Heart14.3
Hypothalamus6.45
Kidney12.3
Leukemia_chronicMyelogenousK-5629
Leukemia_promyelocytic-HL-6014.2
Leukemialymphoblastic(MOLT-4)6.45
Liver45.75
Lung21.4
Lymphnode5.5
Lymphoma_burkitts(Daudi)9.55
Lymphoma_burkitts(Raji)16.8
MedullaOblongata5.7
OccipitalLobe5.3
OlfactoryBulb4.95
Ovary3.35
Pancreas4.8
PancreaticIslet6.7
ParietalLobe5.85
Pituitary7.8
Placenta17.2
Pons4.9
PrefrontalCortex7
Prostate7.5
Salivarygland4.95
SkeletalMuscle6.3
Skin4.5
SmoothMuscle7.2
Spinalcord6.55
SubthalamicNucleus4.45
SuperiorCervicalGanglion6.65
TemporalLobe5
Testis13.1
TestisGermCell5.6
TestisIntersitial6.2
TestisLeydigCell5.5
TestisSeminiferousTubule6.4
Thalamus4.95
Thymus17.95
Thyroid7.35
Tongue4.55
Tonsil6.1
Trachea4.85
TrigeminalGanglion5.45
Uterus4.75
UterusCorpus5.5
WholeBlood10.5
Wholebrain15.4
colon6.3
pineal_day7.84
pineal_night7.14
retina7.125
small_intestine6.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P410059
  • 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
Amygdala5.69 ± 0.74
Basal Forebrain5.64 ± 0.24
Basal Part of Pons6.46 ± 0.33
Cerebellar Cortex5.92 ± 0.47
Cerebellar Nuclei6.27 ± 0.52
Claustrum5.57 ± 0.73
Epithalamus6 ± 0.45
Frontal Lobe6.21 ± 0.44
Globus Pallidus5.6 ± 0.37
Hypothalamus6.05 ± 0.49
Insula6.15 ± 0.22
Limbic Lobe5.9 ± 0.54
Mesencephalon5.83 ± 0.46
Myelencephalon5.95 ± 0.55
Occipital Lobe5.63 ± 0.5
Parietal Lobe6.05 ± 0.47
Pontine Tegmentum5.92 ± 0.48
Striatum5.73 ± 0.39
Subthalamus5.57 ± 0.99
Temporal Lobe6.16 ± 0.42
Thalamus5.98 ± 0.45
White Matter5.71 ± 0.34
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CIAO1_HUMAN_1 10 1 10 MKDSLVLLGR PRIDE
PAp00003620 21 155 175 HVVWHPSQELLASASYDDTVK 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