AutismKB 2.0

Annotation Detail for KIAA1543


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Basic Information Top
Gene Symbol:KIAA1543 ( NEZHA )
Gene Full Name: KIAA1543
Band: 19p13.2
Quick LinksEntrez ID:57662; OMIM: 612685; Uniprot ID:CAMP3_HUMAN; ENSEMBL ID: ENSG00000076826; 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 body3 / 7076142
blastocyst1 / 6231916
fetus25 / 56401244
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult41 / 193912121
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor0 / 2638450 
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal87 / 336030725
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma4 / 4635686
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain20 / 110098918
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye11 / 21105452
heart2 / 8962622
intestine16 / 23447268
kidney16 / 21177775
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node2 / 9161021
mammary gland7 / 15327145
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate6 / 18934531
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis10 / 33044230
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P394043
  • 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
Amygdala6.47 ± 0.45
Basal Forebrain5.74 ± 0.25
Basal Part of Pons6.29 ± 0.35
Cerebellar Cortex6.36 ± 0.21
Cerebellar Nuclei5.57 ± 0.56
Claustrum6.44 ± 0.4
Epithalamus5.24 ± 0.4
Frontal Lobe6.03 ± 0.44
Globus Pallidus4.91 ± 0.54
Hypothalamus5.76 ± 0.44
Insula6.04 ± 0.33
Limbic Lobe6.35 ± 0.4
Mesencephalon5.84 ± 0.48
Myelencephalon6.02 ± 0.49
Occipital Lobe6.18 ± 0.4
Parietal Lobe6.1 ± 0.43
Pontine Tegmentum5.89 ± 0.47
Striatum5.46 ± 0.44
Subthalamus5.67 ± 0.48
Temporal Lobe6.23 ± 0.34
Thalamus5.86 ± 0.44
White Matter3.88 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2310057J16RikCBCerebellum25.55
27.27
2310057J16RikCTXCerebral cortex57.32
41.48
2310057J16RikHIPHippocampal region27.27
25.7
2310057J16RikHPFHippocampal formation32.58
27.15
2310057J16RikHYHypothalamus36.81
27.07
2310057J16RikLSXLateral septal complex13.78
9.02
2310057J16RikMBMidbrain40.47
34.19
2310057J16RikMYMedulla51.41
51.69
2310057J16RikOLFOlfactory bulb67.42
56.28
2310057J16RikPPons45.83
43.28
2310057J16RikPALPallidum40.12
31.92
2310057J16RikRHPRetrohippocampal region43.79
30.59
2310057J16RiksAMYStriatum-like amygdalar nuclei41.28
27.26
2310057J16RikSTRStriatum18.94
13.21
2310057J16RikSTRdStriatum dorsal region12.41
8.67
2310057J16RikSTRvStriatum ventral region30.39
21.14
2310057J16RikTHThalamus27.52
19.55
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01123842 16 429 444 SVSSDSLGPPRPAPAR 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