AutismKB 2.0

Annotation Detail for KIAA1147


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Basic Information Top
Gene Symbol:KIAA1147 ( LCHN,PRO2561 )
Gene Full Name: KIAA1147
Band: 7q34
Quick LinksEntrez ID:57189; OMIM: NA; Uniprot ID:LCHN_HUMAN; ENSEMBL ID: ENSG00000127359; HGNC ID: 29472
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 body1 / 7076114
blastocyst0 / 623190 
fetus30 / 56401253
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult73 / 193912137
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal128 / 336030738
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone0 / 716550 
bone marrow1 / 4880120
brain29 / 110098926
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye13 / 21105461
heart7 / 8962678
intestine10 / 23447242
kidney8 / 21177737
larynx3 / 24145124
liver10 / 20774348
lung34 / 336974100
lymph0 / 442700 
lymph node8 / 9161087
mammary gland3 / 15327119
mouth1 / 6705214
muscle5 / 10771546
nerve1 / 1576863
ovary4 / 10205139
pancreas5 / 21481223
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate8 / 18934542
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach2 / 9661920
testis1 / 3304423
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus6 / 23287825
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P404821
  • 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
Amygdala6.87 ± 0.26
Basal Forebrain6.89 ± 0.14
Basal Part of Pons6.86 ± 0.17
Cerebellar Cortex6.79 ± 0.13
Cerebellar Nuclei7.37 ± 0.27
Claustrum7.05 ± 0.33
Epithalamus6.73 ± 0.32
Frontal Lobe6.92 ± 0.33
Globus Pallidus7.57 ± 0.18
Hypothalamus6.54 ± 0.39
Insula6.96 ± 0.2
Limbic Lobe7 ± 0.39
Mesencephalon7.02 ± 0.35
Myelencephalon6.96 ± 0.35
Occipital Lobe6.73 ± 0.35
Parietal Lobe6.86 ± 0.32
Pontine Tegmentum6.99 ± 0.39
Striatum7.5 ± 0.31
Subthalamus7.19 ± 0.16
Temporal Lobe6.92 ± 0.27
Thalamus6.94 ± 0.26
White Matter7.88 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
E330009J07RikCBCerebellum58.15
77.58
E330009J07RikCTXCerebral cortex42.56
30.5
E330009J07RikHIPHippocampal region16.43
18.68
E330009J07RikHPFHippocampal formation18.42
17.6
E330009J07RikHYHypothalamus2.24
1.72
E330009J07RikLSXLateral septal complex6.89
4.59
E330009J07RikMBMidbrain5.05
4.52
E330009J07RikMYMedulla8.71
9.68
E330009J07RikOLFOlfactory bulb16.35
13.2
E330009J07RikPPons6.88
7.1
E330009J07RikPALPallidum3.91
3.3
E330009J07RikRHPRetrohippocampal region21.11
16.43
E330009J07RiksAMYStriatum-like amygdalar nuclei13.67
9.3
E330009J07RikSTRStriatum23.39
16.74
E330009J07RikSTRdStriatum dorsal region27.07
20.06
E330009J07RikSTRvStriatum ventral region22.3
14.21
E330009J07RikTHThalamus4.24
4.16
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