AutismKB 2.0

Annotation Detail for KIAA0753


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Basic Information Top
Gene Symbol:KIAA0753 ( MGC130040,MGC130041 )
Gene Full Name: KIAA0753
Band: 17p13.1
Quick LinksEntrez ID:9851; OMIM: NA; Uniprot ID:K0753_HUMAN; ENSEMBL ID: ENSG00000198920; HGNC ID: 29110
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
blastocyst1 / 6231916
fetus16 / 56401228
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult35 / 193912118
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor11 / 26384541
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal65 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor6 / 9025766
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 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain23 / 110098920
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx1 / 2414541
liver3 / 20774314
lung5 / 33697414
lymph0 / 442700 
lymph node6 / 9161065
mammary gland1 / 1532716
mouth2 / 6705229
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach1 / 9661910
testis29 / 33044287
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204711_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.65
Adipocyte6.4
AdrenalCortex6.75
Adrenalgland5.8
Amygdala7
Appendix6.4
AtrioventricularNode4.9
BDCA4+_DentriticCells6.7
Bonemarrow6.25
BronchialEpithelialCells6.3
CD105+_Endothelial6.4
CD14+_Monocytes6.8
CD19+_BCells(neg._sel.)6.9
CD33+_Myeloid8.35
CD34+8.25
CD4+_Tcells6.9
CD56+_NKCells7.35
CD71+_EarlyErythroid6
CD8+_Tcells8.9
CardiacMyocytes8.55
Caudatenucleus5.85
Cerebellum5.25
CerebellumPeduncles7.3
CiliaryGanglion4.5
CingulateCortex6.85
Colorectaladenocarcinoma6.75
DorsalRootGanglion4.9
FetalThyroid6.55
Fetalbrain17.45
Fetalliver5.5
Fetallung5.5
GlobusPallidus4.7
Heart8.05
Hypothalamus8.25
Kidney5.15
Leukemia_chronicMyelogenousK-5625.85
Leukemia_promyelocytic-HL-605.7
Leukemialymphoblastic(MOLT-4)5.25
Liver8.35
Lung7
Lymphnode6.1
Lymphoma_burkitts(Daudi)8.4
Lymphoma_burkitts(Raji)8.9
MedullaOblongata5.95
OccipitalLobe6.55
OlfactoryBulb5.35
Ovary4.25
Pancreas5.35
PancreaticIslet6.85
ParietalLobe6.85
Pituitary8.8
Placenta6.2
Pons6.1
PrefrontalCortex11.65
Prostate7.5
Salivarygland5.1
SkeletalMuscle7.4
Skin4.9
SmoothMuscle7.4
Spinalcord6.85
SubthalamicNucleus5.9
SuperiorCervicalGanglion7.2
TemporalLobe5.9
Testis5.65
TestisGermCell13.8
TestisIntersitial5.55
TestisLeydigCell6.65
TestisSeminiferousTubule7.2
Thalamus6.45
Thymus6.65
Thyroid8.65
Tongue6.7
Tonsil7.7
Trachea5.4
TrigeminalGanglion6.45
Uterus7.55
UterusCorpus5.65
WholeBlood6.65
Wholebrain5.4
colon6.45
pineal_day8.22
pineal_night7.92
retina7.8
small_intestine6.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5379_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 ± 0.41
Basal Forebrain3.76 ± 0.25
Basal Part of Pons3.65 ± 0.48
Cerebellar Cortex3.56 ± 0.53
Cerebellar Nuclei3.43 ± 0.36
Claustrum3.76 ± 0.73
Epithalamus3.6 ± 0.42
Frontal Lobe3.67 ± 0.58
Globus Pallidus3.58 ± 0.57
Hypothalamus3.22 ± 0.67
Insula3.4 ± 0.36
Limbic Lobe3.97 ± 0.56
Mesencephalon3.81 ± 0.57
Myelencephalon3.76 ± 0.57
Occipital Lobe4.16 ± 0.45
Parietal Lobe3.85 ± 0.6
Pontine Tegmentum3.82 ± 0.72
Striatum4.42 ± 0.52
Subthalamus3.56 ± 0.94
Temporal Lobe3.8 ± 0.49
Thalamus3.5 ± 0.6
White Matter3.24 ± 0.68
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4933427D14RikCBCerebellum12.7
13.11
4933427D14RikCTXCerebral cortex59.19
40.84
4933427D14RikHIPHippocampal region35.88
50.06
4933427D14RikHPFHippocampal formation42.7
44.97
4933427D14RikHYHypothalamus24.78
16.6
4933427D14RikLSXLateral septal complex89.88
81.52
4933427D14RikMBMidbrain20.31
15.69
4933427D14RikMYMedulla22.24
19.05
4933427D14RikOLFOlfactory bulb58.9
44.2
4933427D14RikPPons20.64
16.73
4933427D14RikPALPallidum20.28
14.93
4933427D14RikRHPRetrohippocampal region53.05
38.71
4933427D14RiksAMYStriatum-like amygdalar nuclei50.87
30.79
4933427D14RikSTRStriatum31.44
21.61
4933427D14RikSTRdStriatum dorsal region21.65
13.99
4933427D14RikSTRvStriatum ventral region32.23
21.11
4933427D14RikTHThalamus15.98
11.5
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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