AutismKB 2.0

Annotation Detail for KIAA1549


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Basic Information Top
Gene Symbol:KIAA1549 ( FLJ11731,FLJ38703,FLJ40644 )
Gene Full Name: KIAA1549
Band: 7q34
Quick LinksEntrez ID:57670; OMIM: 613344; Uniprot ID:B6HY55_HUMAN; ENSEMBL ID: ENSG00000122778; HGNC ID: 22219
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 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
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 tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal11 / 33603073
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine1 / 2344724
kidney4 / 21177718
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
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_32_P111996
  • 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
Amygdala4.76 ± 1.31
Basal Forebrain4.56 ± 0.8
Basal Part of Pons3.55 ± 1.49
Cerebellar Cortex3.28 ± 0.79
Cerebellar Nuclei3.63 ± 1.16
Claustrum5.24 ± 1.05
Epithalamus3.02 ± 1.44
Frontal Lobe3.47 ± 1.14
Globus Pallidus5.67 ± 0.88
Hypothalamus3.4 ± 0.81
Insula3.42 ± 1.28
Limbic Lobe4.41 ± 1.33
Mesencephalon4.26 ± 0.98
Myelencephalon4.06 ± 1.32
Occipital Lobe4.5 ± 1.25
Parietal Lobe4.04 ± 1.4
Pontine Tegmentum3.91 ± 1.18
Striatum4.63 ± 1.56
Subthalamus4.83 ± 0.76
Temporal Lobe3.85 ± 1.25
Thalamus3.67 ± 0.96
White Matter5.06 ± 1.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D630045J12RikCBCerebellum2.08
3.07
D630045J12RikCTXCerebral cortex2.86
1.97
D630045J12RikHIPHippocampal region3.28
3.34
D630045J12RikHPFHippocampal formation2.43
2.32
D630045J12RikHYHypothalamus0.12
0.18
D630045J12RikLSXLateral septal complex0.28
0.2
D630045J12RikMBMidbrain0.27
0.24
D630045J12RikMYMedulla1.8
2.01
D630045J12RikOLFOlfactory bulb2.94
3.25
D630045J12RikPPons0.67
0.78
D630045J12RikPALPallidum0.63
0.48
D630045J12RikRHPRetrohippocampal region1.22
1.05
D630045J12RiksAMYStriatum-like amygdalar nuclei1.6
1.02
D630045J12RikSTRStriatum0.57
0.4
D630045J12RikSTRdStriatum dorsal region0.44
0.34
D630045J12RikSTRvStriatum ventral region0.52
0.32
D630045J12RikTHThalamus1.65
1.06
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