AutismKB 2.0

Annotation Detail for KPTN


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Basic Information Top
Gene Symbol:KPTN ( 2E4 )
Gene Full Name: kaptin (actin binding protein)
Band: 19q13.32
Quick LinksEntrez ID:11133; OMIM: NA; Uniprot ID:KPTN_HUMAN; ENSEMBL ID: ENSG00000118162; HGNC ID: 6404
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 body2 / 7076128
blastocyst1 / 6231916
fetus8 / 56401214
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult23 / 193912111
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal61 / 336030718
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer0 / 1026800 
retinoblastoma4 / 4635686
skin tumor3 / 12494924
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain26 / 110098923
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye8 / 21105437
heart3 / 8962633
intestine4 / 23447217
kidney4 / 21177718
larynx0 / 241450 
liver4 / 20774319
lung8 / 33697423
lymph0 / 442700 
lymph node7 / 9161076
mammary gland1 / 1532716
mouth1 / 6705214
muscle1 / 1077159
nerve1 / 1576863
ovary3 / 10205129
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta2 / 2808257
prostate0 / 1893450 
salivary gland1 / 2015549
skin3 / 21057414
spleen1 / 5395218
stomach0 / 966190 
testis1 / 3304423
thymus2 / 8113124
thyroid4 / 4747384
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220160_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.6
Adipocyte9.25
AdrenalCortex11.3
Adrenalgland8.55
Amygdala9.25
Appendix9.75
AtrioventricularNode7
BDCA4+_DentriticCells15.95
Bonemarrow9.85
BronchialEpithelialCells7.05
CD105+_Endothelial9.45
CD14+_Monocytes10
CD19+_BCells(neg._sel.)6.7
CD33+_Myeloid11.8
CD34+12.45
CD4+_Tcells9.5
CD56+_NKCells10.3
CD71+_EarlyErythroid8.9
CD8+_Tcells8.25
CardiacMyocytes11.7
Caudatenucleus11.6
Cerebellum14.5
CerebellumPeduncles10.85
CiliaryGanglion7.1
CingulateCortex9.75
Colorectaladenocarcinoma9.2
DorsalRootGanglion12.25
FetalThyroid7.6
Fetalbrain9
Fetalliver7.95
Fetallung7.05
GlobusPallidus7.6
Heart11.7
Hypothalamus10.25
Kidney8.4
Leukemia_chronicMyelogenousK-5628.45
Leukemia_promyelocytic-HL-6010.2
Leukemialymphoblastic(MOLT-4)7.4
Liver12.2
Lung10.3
Lymphnode7.85
Lymphoma_burkitts(Daudi)12.35
Lymphoma_burkitts(Raji)13.75
MedullaOblongata8.6
OccipitalLobe8.4
OlfactoryBulb7.45
Ovary6.2
Pancreas7.5
PancreaticIslet10
ParietalLobe10.45
Pituitary11
Placenta9.35
Pons8.85
PrefrontalCortex10.7
Prostate10.5
Salivarygland8.65
SkeletalMuscle11.55
Skin9.2
SmoothMuscle10.25
Spinalcord9.95
SubthalamicNucleus8.85
SuperiorCervicalGanglion11.35
TemporalLobe8.45
Testis8.1
TestisGermCell5.7
TestisIntersitial7.75
TestisLeydigCell9.3
TestisSeminiferousTubule8.05
Thalamus9.65
Thymus7.5
Thyroid11.1
Tongue8.85
Tonsil9.05
Trachea7.7
TrigeminalGanglion9.4
Uterus7.25
UterusCorpus9.75
WholeBlood9.9
Wholebrain8.1
colon9
pineal_day12.3
pineal_night11.66
retina11
small_intestine8.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5158_PI416261804
  • 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
Amygdala3.7 ± 0.7
Basal Forebrain3.51 ± 0.58
Basal Part of Pons4.05 ± 1.36
Cerebellar Cortex4.14 ± 0.5
Cerebellar Nuclei3.59 ± 0.58
Claustrum3.26 ± 1.01
Epithalamus3.4 ± 0.61
Frontal Lobe3.79 ± 0.66
Globus Pallidus2.91 ± 0.53
Hypothalamus3.7 ± 0.38
Insula3.96 ± 0.28
Limbic Lobe3.53 ± 0.74
Mesencephalon3.49 ± 0.64
Myelencephalon3.56 ± 0.68
Occipital Lobe3.05 ± 0.83
Parietal Lobe3.34 ± 0.65
Pontine Tegmentum3.58 ± 0.51
Striatum3.13 ± 0.65
Subthalamus4.17 ± 0.92
Temporal Lobe3.85 ± 0.55
Thalamus3.46 ± 0.7
White Matter3.08 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
KptnCBCerebellum29.51
33.3
KptnCTXCerebral cortex39.85
26.4
KptnHIPHippocampal region39.25
52.18
KptnHPFHippocampal formation44.11
46.63
KptnHYHypothalamus14.59
9.47
KptnLSXLateral septal complex10.21
5.86
KptnMBMidbrain17.4
13.5
KptnMYMedulla26.95
26.23
KptnOLFOlfactory bulb42.39
31.33
KptnPPons22.25
18.8
KptnPALPallidum21.97
17.12
KptnRHPRetrohippocampal region54.18
38.73
KptnsAMYStriatum-like amygdalar nuclei49.83
31.6
KptnSTRStriatum51.08
33.21
KptnSTRdStriatum dorsal region56.34
37.09
KptnSTRvStriatum ventral region49.31
30.76
KptnTHThalamus27.78
23.6
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


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