AutismKB 2.0

Annotation Detail for KIT


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Basic Information Top
Gene Symbol:KIT ( C-Kit,CD117,PBT,SCFR )
Gene Full Name: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Band: 4q12
Quick LinksEntrez ID:3815; OMIM: 164920; Uniprot ID:KIT_HUMAN; ENSEMBL ID: ENSG00000157404; HGNC ID: 6342
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
blastocyst2 / 6231932
fetus22 / 56401239
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult47 / 193912124
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
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-neoplasia2 / 9725020
normal99 / 336030729
ovarian tumor18 / 76682234
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain37 / 110098933
cervix0 / 481710 
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye5 / 21105423
heart4 / 8962644
intestine3 / 23447212
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth0 / 670520 
muscle4 / 10771537
nerve1 / 1576863
ovary18 / 102051176
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin11 / 21057452
spleen1 / 5395218
stomach0 / 966190 
testis1 / 3304423
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord1 / 1368073
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205051_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.45
Adipocyte7.15
AdrenalCortex7.9
Adrenalgland6.05
Amygdala65.3
Appendix8.95
AtrioventricularNode5.7
BDCA4+_DentriticCells6.6
Bonemarrow7.35
BronchialEpithelialCells6.4
CD105+_Endothelial20.15
CD14+_Monocytes7.75
CD19+_BCells(neg._sel.)7.5
CD33+_Myeloid9.1
CD34+867.9
CD4+_Tcells7.95
CD56+_NKCells19.25
CD71+_EarlyErythroid5.75
CD8+_Tcells7.2
CardiacMyocytes8.05
Caudatenucleus21.1
Cerebellum43.85
CerebellumPeduncles62.75
CiliaryGanglion5.35
CingulateCortex31.75
Colorectaladenocarcinoma6.7
DorsalRootGanglion5.5
FetalThyroid46.2
Fetalbrain55.3
Fetalliver6.4
Fetallung50.85
GlobusPallidus5.75
Heart9.45
Hypothalamus29.75
Kidney7.75
Leukemia_chronicMyelogenousK-56234.3
Leukemia_promyelocytic-HL-607.55
Leukemialymphoblastic(MOLT-4)6.15
Liver9.4
Lung9.8
Lymphnode6.95
Lymphoma_burkitts(Daudi)9.45
Lymphoma_burkitts(Raji)9.8
MedullaOblongata15.15
OccipitalLobe17.4
OlfactoryBulb5.7
Ovary5.6
Pancreas5.8
PancreaticIslet7.65
ParietalLobe9.5
Pituitary9.6
Placenta6.6
Pons10.2
PrefrontalCortex29.65
Prostate8.45
Salivarygland40.45
SkeletalMuscle8.8
Skin12.8
SmoothMuscle5.1
Spinalcord18.25
SubthalamicNucleus15.55
SuperiorCervicalGanglion8.7
TemporalLobe7.9
Testis6.15
TestisGermCell6.2
TestisIntersitial7.1
TestisLeydigCell6.95
TestisSeminiferousTubule7.7
Thalamus78.1
Thymus5.6
Thyroid491.25
Tongue7.05
Tonsil6.9
Trachea15.4
TrigeminalGanglion7
Uterus15.85
UterusCorpus6.6
WholeBlood7.35
Wholebrain12.55
colon31.2
pineal_day9.24
pineal_night9.18
retina36.525
small_intestine47.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_419_PI416408490
  • 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
Amygdala6.86 ± 0.87
Basal Forebrain5.74 ± 0.31
Basal Part of Pons5.46 ± 0.69
Cerebellar Cortex7.75 ± 0.44
Cerebellar Nuclei7.34 ± 0.73
Claustrum5.67 ± 0.45
Epithalamus6.04 ± 0.81
Frontal Lobe6.64 ± 0.84
Globus Pallidus4.06 ± 0.94
Hypothalamus6.23 ± 0.4
Insula6.44 ± 0.94
Limbic Lobe7.07 ± 1.4
Mesencephalon6.54 ± 1.3
Myelencephalon6.72 ± 1.22
Occipital Lobe7.43 ± 0.65
Parietal Lobe7.15 ± 0.7
Pontine Tegmentum7.06 ± 0.85
Striatum6.71 ± 0.84
Subthalamus7.52 ± 0.26
Temporal Lobe6.63 ± 0.95
Thalamus7.56 ± 0.76
White Matter3.4 ± 0.63
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
KitCBCerebellum100
100
KitCTXCerebral cortex15.3
16.99
KitHIPHippocampal region24.4
56.58
KitHPFHippocampal formation27.47
44.91
KitHYHypothalamus4.74
4.49
KitLSXLateral septal complex2.88
2.95
KitMBMidbrain6.91
6.75
KitMYMedulla16.57
19.97
KitOLFOlfactory bulb20.1
23.07
KitPPons6.14
5.96
KitPALPallidum7.38
6.89
KitRHPRetrohippocampal region30.1
31.65
KitsAMYStriatum-like amygdalar nuclei8.77
9.01
KitSTRStriatum10.87
12.96
KitSTRdStriatum dorsal region11.42
14.95
KitSTRvStriatum ventral region12.98
12.64
KitTHThalamus2.26
2.75
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KIT_HUMAN_797 8 797 804 NILLTHGR PRIDE
PAp00028074 19 354 372 TFTDKWEDYPKSENESNIR 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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