AutismKB 2.0

Annotation Detail for TAP1


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Basic Information Top
Gene Symbol:TAP1 ( ABC17,ABCB2,APT1,D6S114E,FLJ26666,FLJ41500,PSF1,RING4,TAP1*0102N,TAP1N )
Gene Full Name: transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
Band: 6p21.32
Quick LinksEntrez ID:6890; OMIM: 170260; Uniprot ID:TAP1_HUMAN; ENSEMBL ID: ENSG00000168394; HGNC ID: 43
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
fetus9 / 56401215
neonate3 / 3109796
infant0 / 236200 
juvenile5 / 5555689
adult216 / 1939121111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor11 / 94178116
cervical tumor3 / 3436687
chondrosarcoma10 / 82823120
colorectal tumor14 / 114246122
esophageal tumor8 / 17290462
gastrointestinal tumor13 / 119369108
germ cell tumor28 / 263845106
glioma15 / 106883140
head and neck tumor6 / 13630244
kidney tumor5 / 6895972
leukemia10 / 95842104
liver tumor11 / 96359114
lung tumor6 / 10312758
lymphoma13 / 71755181
non-neoplasia8 / 9725082
normal295 / 336030787
ovarian tumor3 / 7668239
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor22 / 124949176
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor29 / 90257321
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites4 / 4001599
bladder8 / 29757268
blood33 / 123478267
bone8 / 71655111
bone marrow2 / 4880140
brain69 / 110098962
cervix12 / 48171249
connective tissue10 / 14925566
ear2 / 16212123
embryonic tissue2 / 2157229
esophagus8 / 20209395
eye5 / 21105423
heart3 / 8962633
intestine33 / 234472140
kidney25 / 211777118
larynx2 / 2414582
liver18 / 20774386
lung35 / 336974103
lymph3 / 4427067
lymph node17 / 91610185
mammary gland14 / 15327191
mouth3 / 6705244
muscle6 / 10771555
nerve0 / 157680 
ovary5 / 10205148
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta16 / 28082556
prostate17 / 18934589
salivary gland2 / 2015599
skin29 / 210574137
spleen23 / 53952426
stomach4 / 9661941
testis17 / 33044251
thymus33 / 81131406
thyroid3 / 4747363
tonsil1 / 1699958
trachea7 / 52413133
umbilical cord1 / 1368073
uterus51 / 232878218
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202307_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts793.5
Adipocyte53.25
AdrenalCortex55.75
Adrenalgland46.75
Amygdala49.55
Appendix54.3
AtrioventricularNode27.05
BDCA4+_DentriticCells762.8
Bonemarrow63.65
BronchialEpithelialCells54.05
CD105+_Endothelial54.7
CD14+_Monocytes411.7
CD19+_BCells(neg._sel.)329.55
CD33+_Myeloid320.45
CD34+118.1
CD4+_Tcells665.75
CD56+_NKCells692.9
CD71+_EarlyErythroid23.45
CD8+_Tcells662.2
CardiacMyocytes67.6
Caudatenucleus37.65
Cerebellum35.15
CerebellumPeduncles51.85
CiliaryGanglion37.5
CingulateCortex18.2
Colorectaladenocarcinoma56.75
DorsalRootGanglion40.95
FetalThyroid41.35
Fetalbrain37.75
Fetalliver29.2
Fetallung45.6
GlobusPallidus32.8
Heart84.05
Hypothalamus58.85
Kidney37.1
Leukemia_chronicMyelogenousK-56239.05
Leukemia_promyelocytic-HL-6087.35
Leukemialymphoblastic(MOLT-4)44.6
Liver71
Lung182.55
Lymphnode298.7
Lymphoma_burkitts(Daudi)291.85
Lymphoma_burkitts(Raji)170.8
MedullaOblongata39.15
OccipitalLobe24.25
OlfactoryBulb42.7
Ovary22.65
Pancreas43.65
PancreaticIslet76.9
ParietalLobe43.65
Pituitary55.8
Placenta56.5
Pons40.2
PrefrontalCortex66.75
Prostate76.4
Salivarygland58.9
SkeletalMuscle61.35
Skin41.8
SmoothMuscle61.7
Spinalcord57.8
SubthalamicNucleus39.8
SuperiorCervicalGanglion60.15
TemporalLobe36.3
Testis47.75
TestisGermCell50.45
TestisIntersitial27.2
TestisLeydigCell48.7
TestisSeminiferousTubule41.85
Thalamus50.5
Thymus147.2
Thyroid68.7
Tongue60.3
Tonsil216.5
Trachea45.8
TrigeminalGanglion53.45
Uterus44.65
UterusCorpus48.15
WholeBlood535.2
Wholebrain45.05
colon98.6
pineal_day102.32
pineal_night90.48
retina65.875
small_intestine71.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_648_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
Amygdala2.38 ± 0.84
Basal Forebrain2.05 ± 0.47
Basal Part of Pons2.21 ± 0.8
Cerebellar Cortex2.02 ± 0.6
Cerebellar Nuclei2.54 ± 0.63
Claustrum2.68 ± 0.69
Epithalamus2.36 ± 0.76
Frontal Lobe2.09 ± 0.72
Globus Pallidus3.38 ± 0.7
Hypothalamus1.98 ± 0.81
Insula2.06 ± 0.68
Limbic Lobe2.19 ± 0.63
Mesencephalon2.26 ± 0.71
Myelencephalon2.42 ± 0.75
Occipital Lobe2.58 ± 0.8
Parietal Lobe2.31 ± 0.78
Pontine Tegmentum2.28 ± 0.67
Striatum2.65 ± 0.76
Subthalamus2.15 ± 0.45
Temporal Lobe2.11 ± 0.75
Thalamus2.71 ± 0.69
White Matter3.16 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tap1CBCerebellum0.24
0.41
Tap1CTXCerebral cortex0.16
0.38
Tap1HIPHippocampal region0.11
0.16
Tap1HPFHippocampal formation0.11
0.16
Tap1HYHypothalamus0.26
0.41
Tap1LSXLateral septal complex0.06
0.08
Tap1MBMidbrain0.23
0.45
Tap1MYMedulla1.5
2.25
Tap1OLFOlfactory bulb0.64
1.88
Tap1PPons1.41
4.48
Tap1PALPallidum0.05
0.04
Tap1RHPRetrohippocampal region0.11
0.18
Tap1sAMYStriatum-like amygdalar nuclei0.18
0.17
Tap1STRStriatum0.08
0.1
Tap1STRdStriatum dorsal region0.05
0.11
Tap1STRvStriatum ventral region0.11
0.04
Tap1THThalamus0.31
0.63
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004505 32 720 751 KPCVLILDDATSALDANSQLQVEQLLYESPER Peptide Atlas
TAP1_HUMAN_0 0 0 0 STVAALLQNLYQPTGGQLLLDGKPLPQYEHR PRIDE
TAP1_HUMAN_363 16 363 378 SSQVAIEALSAMPTVR PRIDE
TAP1_HUMAN_544 31 544 574 STVAALLQNLYQPTGGQLLLDGKPLPQYEHR PRIDE
TAP1_HUMAN_580 14 580 593 QVAAVGQEPQVFGR PRIDE

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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