AutismKB 2.0

Annotation Detail for KIAA1530


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Basic Information Top
Gene Symbol:KIAA1530 ( MGC117169 )
Gene Full Name: KIAA1530
Band: 4p16.3
Quick LinksEntrez ID:57654; OMIM: NA; Uniprot ID:K1530_HUMAN; ENSEMBL ID: ENSG00000163945; HGNC ID:
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
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult23 / 193912111
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
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal31 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
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 
blood1 / 1234788
bone0 / 716550 
bone marrow1 / 4880120
brain5 / 11009894
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine3 / 23447212
kidney0 / 2117770 
larynx1 / 2414541
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P319880
  • 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
Amygdala3.4 ± 0.98
Basal Forebrain3.15 ± 0.36
Basal Part of Pons2.72 ± 0.39
Cerebellar Cortex2.95 ± 0.64
Cerebellar Nuclei3.02 ± 0.69
Claustrum3.35 ± 0.75
Epithalamus3.65 ± 0.68
Frontal Lobe2.87 ± 0.74
Globus Pallidus3.84 ± 0.68
Hypothalamus2.68 ± 0.59
Insula2.61 ± 0.58
Limbic Lobe2.8 ± 0.7
Mesencephalon3.18 ± 0.95
Myelencephalon3.06 ± 0.75
Occipital Lobe3.39 ± 0.75
Parietal Lobe2.95 ± 0.68
Pontine Tegmentum3.01 ± 0.56
Striatum3.24 ± 0.68
Subthalamus2.98 ± 0.7
Temporal Lobe2.87 ± 0.71
Thalamus3.14 ± 0.64
White Matter5.12 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4933407H18RikCBCerebellum4.55
6.75
4933407H18RikCTXCerebral cortex5.64
3.95
4933407H18RikHIPHippocampal region3.94
4.16
4933407H18RikHPFHippocampal formation3.14
3.12
4933407H18RikHYHypothalamus3.14
2.33
4933407H18RikLSXLateral septal complex2.05
1.32
4933407H18RikMBMidbrain3.34
3.15
4933407H18RikMYMedulla8.01
8.71
4933407H18RikOLFOlfactory bulb8.01
7.27
4933407H18RikPPons3.09
2.61
4933407H18RikPALPallidum5.35
5.08
4933407H18RikRHPRetrohippocampal region1.66
1.48
4933407H18RiksAMYStriatum-like amygdalar nuclei15.16
18.53
4933407H18RikSTRStriatum3.92
3.65
4933407H18RikSTRdStriatum dorsal region0.91
0.77
4933407H18RikSTRvStriatum ventral region9.27
6.65
4933407H18RikTHThalamus2.28
1.92
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