AutismKB 2.0

Annotation Detail for OXA1L


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Basic Information Top
Gene Symbol:OXA1L ( MGC133129,OXA1 )
Gene Full Name: oxidase (cytochrome c) assembly 1-like
Band: 14q11.2
Quick LinksEntrez ID:5018; OMIM: 601066; Uniprot ID:OXA1L_HUMAN; ENSEMBL ID: ENSG00000155463; HGNC ID: 8526
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
fetus104 / 564012184
neonate10 / 31097321
infant8 / 23620338
juvenile11 / 55556197
adult333 / 1939121171
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) tumor10 / 94178106
cervical tumor23 / 34366669
chondrosarcoma18 / 82823217
colorectal tumor28 / 114246245
esophageal tumor3 / 17290173
gastrointestinal tumor33 / 119369276
germ cell tumor42 / 263845159
glioma8 / 10688374
head and neck tumor4 / 13630229
kidney tumor6 / 6895987
leukemia19 / 95842198
liver tumor36 / 96359373
lung tumor22 / 103127213
lymphoma22 / 71755306
non-neoplasia16 / 97250164
normal614 / 3360307182
ovarian tumor7 / 7668291
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS34 / 125680270
prostate cancer8 / 10268077
retinoblastoma9 / 46356194
skin tumor24 / 124949192
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland9 / 33197271
ascites16 / 40015399
bladder1 / 2975733
blood24 / 123478194
bone17 / 71655237
bone marrow5 / 48801102
brain171 / 1100989155
cervix29 / 48171602
connective tissue21 / 149255140
ear3 / 16212185
embryonic tissue25 / 215722115
esophagus4 / 20209197
eye42 / 211054199
heart18 / 89626200
intestine54 / 234472230
kidney30 / 211777141
larynx1 / 2414541
liver56 / 207743269
lung57 / 336974169
lymph18 / 44270406
lymph node6 / 9161065
mammary gland20 / 153271130
mouth1 / 6705214
muscle28 / 107715259
nerve1 / 1576863
ovary17 / 102051166
pancreas30 / 214812139
parathyroid2 / 2053997
pharynx8 / 41328193
pituitary gland1 / 1658560
placenta57 / 280825202
prostate16 / 18934584
salivary gland1 / 2015549
skin37 / 210574175
spleen13 / 53952240
stomach25 / 96619258
testis51 / 330442154
thymus30 / 81131369
thyroid16 / 47473337
tonsil2 / 16999117
trachea4 / 5241376
umbilical cord4 / 13680292
uterus50 / 232878214
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208717_at
Cell line Expression level Expression bar
721_B_lymphoblasts616.25
Adipocyte124.35
AdrenalCortex69.4
Adrenalgland100.05
Amygdala53.15
Appendix60.35
AtrioventricularNode36.15
BDCA4+_DentriticCells269.8
Bonemarrow88.1
BronchialEpithelialCells138.95
CD105+_Endothelial109.3
CD14+_Monocytes421.7
CD19+_BCells(neg._sel.)413.2
CD33+_Myeloid321.3
CD34+241.05
CD4+_Tcells339.7
CD56+_NKCells173.1
CD71+_EarlyErythroid72.8
CD8+_Tcells258.65
CardiacMyocytes105.05
Caudatenucleus49.05
Cerebellum52.7
CerebellumPeduncles70.25
CiliaryGanglion31.5
CingulateCortex58.9
Colorectaladenocarcinoma76.65
DorsalRootGanglion30.35
FetalThyroid76.25
Fetalbrain43.2
Fetalliver100.2
Fetallung100.95
GlobusPallidus46.15
Heart166.75
Hypothalamus67.55
Kidney93.05
Leukemia_chronicMyelogenousK-56267.05
Leukemia_promyelocytic-HL-60204.85
Leukemialymphoblastic(MOLT-4)73.15
Liver100.8
Lung125.05
Lymphnode126.55
Lymphoma_burkitts(Daudi)217.35
Lymphoma_burkitts(Raji)334.45
MedullaOblongata54.15
OccipitalLobe48.45
OlfactoryBulb51.5
Ovary64.75
Pancreas54.65
PancreaticIslet117.8
ParietalLobe62.2
Pituitary58.05
Placenta63.35
Pons44.95
PrefrontalCortex48.45
Prostate71.5
Salivarygland80.3
SkeletalMuscle95.7
Skin52.5
SmoothMuscle179.85
Spinalcord62
SubthalamicNucleus52.1
SuperiorCervicalGanglion59.85
TemporalLobe61.75
Testis82.7
TestisGermCell68.65
TestisIntersitial30.75
TestisLeydigCell51.25
TestisSeminiferousTubule50.5
Thalamus56.3
Thymus100.9
Thyroid106.65
Tongue62.95
Tonsil96.9
Trachea77.65
TrigeminalGanglion46.35
Uterus72
UterusCorpus57.4
WholeBlood133.2
Wholebrain57.7
colon88.5
pineal_day98.04
pineal_night88.36
retina122.9
small_intestine148.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12828_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
Amygdala4.26 ± 0.5
Basal Forebrain4.53 ± 0.16
Basal Part of Pons4.58 ± 0.28
Cerebellar Cortex4.58 ± 0.34
Cerebellar Nuclei4.57 ± 0.46
Claustrum4.12 ± 0.87
Epithalamus4.47 ± 0.38
Frontal Lobe4.4 ± 0.4
Globus Pallidus4.17 ± 0.31
Hypothalamus4.43 ± 0.5
Insula4.33 ± 0.26
Limbic Lobe4.15 ± 0.45
Mesencephalon4.33 ± 0.4
Myelencephalon4.31 ± 0.47
Occipital Lobe4.18 ± 0.39
Parietal Lobe4.33 ± 0.44
Pontine Tegmentum4.3 ± 0.36
Striatum4.38 ± 0.36
Subthalamus4.21 ± 0.41
Temporal Lobe4.36 ± 0.39
Thalamus4.38 ± 0.38
White Matter3.99 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Oxa1lCBCerebellum26.39
41.89
Oxa1lCTXCerebral cortex48.24
39.77
Oxa1lHIPHippocampal region29.58
40.2
Oxa1lHPFHippocampal formation31
34.86
Oxa1lHYHypothalamus14.06
11.67
Oxa1lLSXLateral septal complex57.04
46.6
Oxa1lMBMidbrain24.83
24.61
Oxa1lMYMedulla33.81
41.93
Oxa1lOLFOlfactory bulb32.67
29.28
Oxa1lPPons28.62
33.65
Oxa1lPALPallidum22.89
22.03
Oxa1lRHPRetrohippocampal region34.25
28.91
Oxa1lsAMYStriatum-like amygdalar nuclei10.86
8.83
Oxa1lSTRStriatum20.48
15.66
Oxa1lSTRdStriatum dorsal region17.13
12.95
Oxa1lSTRvStriatum ventral region36.84
26.8
Oxa1lTHThalamus16.68
17.04
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001153 12 213 224 CLIFPLIVTGQR 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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