AutismKB 2.0

Annotation Detail for KIAA1598


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Basic Information Top
Gene Symbol:KIAA1598 ( DKFZp686A0439,MGC40476,SHOOTIN1,shootin-1 )
Gene Full Name: KIAA1598
Band: 10q25.3
Quick LinksEntrez ID:57698; OMIM: 611171; Uniprot ID:SHOT1_HUMAN; ENSEMBL ID: ENSG00000187164; 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 body1 / 7076114
blastocyst1 / 6231916
fetus96 / 564012170
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult82 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor12 / 26384545
glioma0 / 1068830 
head and neck tumor12 / 13630288
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal343 / 3360307102
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder1 / 2975733
blood3 / 12347824
bone2 / 7165527
bone marrow0 / 488010 
brain290 / 1100989263
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye6 / 21105428
heart3 / 8962633
intestine3 / 23447212
kidney10 / 21177747
larynx3 / 24145124
liver10 / 20774348
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth4 / 6705259
muscle8 / 10771574
nerve1 / 1576863
ovary0 / 1020510 
pancreas11 / 21481251
parathyroid2 / 2053997
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta5 / 28082517
prostate3 / 18934515
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach4 / 9661941
testis43 / 330442130
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea9 / 52413171
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221802_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.5
Adipocyte11.2
AdrenalCortex13.35
Adrenalgland10.45
Amygdala363.3
Appendix12.9
AtrioventricularNode10.35
BDCA4+_DentriticCells133.75
Bonemarrow12.3
BronchialEpithelialCells11.9
CD105+_Endothelial10.7
CD14+_Monocytes64.55
CD19+_BCells(neg._sel.)9.75
CD33+_Myeloid93.2
CD34+13.35
CD4+_Tcells8.2
CD56+_NKCells14.2
CD71+_EarlyErythroid10.35
CD8+_Tcells7.2
CardiacMyocytes16.35
Caudatenucleus212.95
Cerebellum25.5
CerebellumPeduncles16.8
CiliaryGanglion9.4
CingulateCortex257.25
Colorectaladenocarcinoma15
DorsalRootGanglion9.7
FetalThyroid11.95
Fetalbrain572.45
Fetalliver11.65
Fetallung10.95
GlobusPallidus50.1
Heart17.65
Hypothalamus792.65
Kidney10.15
Leukemia_chronicMyelogenousK-56214.55
Leukemia_promyelocytic-HL-609.7
Leukemialymphoblastic(MOLT-4)8.3
Liver16.5
Lung11.55
Lymphnode10.6
Lymphoma_burkitts(Daudi)14.45
Lymphoma_burkitts(Raji)16.6
MedullaOblongata340.8
OccipitalLobe373.6
OlfactoryBulb37.35
Ovary8.2
Pancreas13.8
PancreaticIslet38.65
ParietalLobe240.35
Pituitary27.3
Placenta11.65
Pons28.6
PrefrontalCortex742.6
Prostate14.1
Salivarygland9.9
SkeletalMuscle15.65
Skin9.75
SmoothMuscle12.7
Spinalcord402.45
SubthalamicNucleus47.15
SuperiorCervicalGanglion15.75
TemporalLobe28
Testis10.5
TestisGermCell32.05
TestisIntersitial10.35
TestisLeydigCell13.35
TestisSeminiferousTubule16.25
Thalamus323.65
Thymus8.6
Thyroid36.35
Tongue12.05
Tonsil11.55
Trachea11.5
TrigeminalGanglion16.75
Uterus13.45
UterusCorpus11.15
WholeBlood14.7
Wholebrain114.05
colon46.35
pineal_day152.9
pineal_night147.06
retina128.9
small_intestine26.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P202587
  • 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
Amygdala9.03 ± 0.5
Basal Forebrain9.78 ± 0.28
Basal Part of Pons9.74 ± 0.43
Cerebellar Cortex9 ± 0.2
Cerebellar Nuclei10.11 ± 0.44
Claustrum9.75 ± 0.38
Epithalamus8.81 ± 0.77
Frontal Lobe9.5 ± 0.57
Globus Pallidus11.14 ± 0.32
Hypothalamus9.28 ± 0.57
Insula9.3 ± 0.34
Limbic Lobe9.23 ± 0.48
Mesencephalon9.64 ± 0.71
Myelencephalon9.52 ± 0.59
Occipital Lobe9.33 ± 0.63
Parietal Lobe9.43 ± 0.52
Pontine Tegmentum9.62 ± 0.39
Striatum9.86 ± 0.52
Subthalamus10.1 ± 0.07
Temporal Lobe9.46 ± 0.47
Thalamus9.88 ± 0.46
White Matter11.52 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4930506M07RikCBCerebellum15.74
21.41
4930506M07RikCTXCerebral cortex51.67
37.96
4930506M07RikHIPHippocampal region53.33
77
4930506M07RikHPFHippocampal formation66.12
76.31
4930506M07RikHYHypothalamus34.31
27.38
4930506M07RikLSXLateral septal complex34.61
30
4930506M07RikMBMidbrain31.26
29.94
4930506M07RikMYMedulla35.1
40.11
4930506M07RikOLFOlfactory bulb62.97
52.29
4930506M07RikPPons35.84
36.85
4930506M07RikPALPallidum39.72
35.77
4930506M07RikRHPRetrohippocampal region80.89
73.73
4930506M07RiksAMYStriatum-like amygdalar nuclei44.23
34.76
4930506M07RikSTRStriatum30.89
23.61
4930506M07RikSTRdStriatum dorsal region27.87
21.13
4930506M07RikSTRvStriatum ventral region31.77
21.74
4930506M07RikTHThalamus39.76
33.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064201 15 393 407 ATQPETTEEVTDLKR 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


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