AutismKB 2.0

Annotation Detail for MTPAP


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Basic Information Top
Gene Symbol:MTPAP ( FLJ10486,PAPD1 )
Gene Full Name: mitochondrial poly(A) polymerase
Band: 10p11.23
Quick LinksEntrez ID:55149; OMIM: NA; Uniprot ID:PAPD1_HUMAN; ENSEMBL ID: ENSG00000107951; HGNC ID: 25532
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
blastocyst0 / 623190 
fetus21 / 56401237
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult71 / 193912136
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor10 / 26384537
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal86 / 336030725
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites5 / 40015124
bladder0 / 297570 
blood1 / 1234788
bone6 / 7165583
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine19 / 23447281
kidney11 / 21177751
larynx2 / 2414582
liver12 / 20774357
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth6 / 6705289
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate3 / 18934515
salivary gland0 / 201550 
skin5 / 21057423
spleen2 / 5395237
stomach3 / 9661931
testis5 / 33044215
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus4 / 23287817
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218947_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts110.9
Adipocyte5.1
AdrenalCortex5.6
Adrenalgland4.25
Amygdala5.35
Appendix5.25
AtrioventricularNode4.1
BDCA4+_DentriticCells18.1
Bonemarrow5.1
BronchialEpithelialCells5.1
CD105+_Endothelial46.5
CD14+_Monocytes11.55
CD19+_BCells(neg._sel.)14.15
CD33+_Myeloid12.35
CD34+19.8
CD4+_Tcells17.45
CD56+_NKCells9
CD71+_EarlyErythroid32.05
CD8+_Tcells29.25
CardiacMyocytes8.55
Caudatenucleus4.45
Cerebellum4.15
CerebellumPeduncles5.7
CiliaryGanglion3.7
CingulateCortex5.6
Colorectaladenocarcinoma4.9
DorsalRootGanglion4.05
FetalThyroid5.1
Fetalbrain5
Fetalliver4.35
Fetallung4.65
GlobusPallidus3.75
Heart6.5
Hypothalamus5.85
Kidney4.15
Leukemia_chronicMyelogenousK-5628.15
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)9.55
Liver6.8
Lung5.65
Lymphnode4.4
Lymphoma_burkitts(Daudi)6.75
Lymphoma_burkitts(Raji)7.05
MedullaOblongata4.55
OccipitalLobe4.6
OlfactoryBulb4.05
Ovary3.4
Pancreas4.25
PancreaticIslet5.45
ParietalLobe5.4
Pituitary5.9
Placenta5.2
Pons4.85
PrefrontalCortex6.3
Prostate5.95
Salivarygland4.05
SkeletalMuscle6.2
Skin4
SmoothMuscle5.8
Spinalcord5.4
SubthalamicNucleus6.1
SuperiorCervicalGanglion5.85
TemporalLobe4.65
Testis4.25
TestisGermCell4.8
TestisIntersitial4.3
TestisLeydigCell5.1
TestisSeminiferousTubule4.4
Thalamus5.1
Thymus4.4
Thyroid6.75
Tongue5.1
Tonsil5
Trachea4.15
TrigeminalGanglion5.35
Uterus5.05
UterusCorpus4.6
WholeBlood5.6
Wholebrain4.3
colon5.15
pineal_day8.18
pineal_night8.46
retina5.975
small_intestine4.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P163386
  • 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
Amygdala3.62 ± 0.99
Basal Forebrain3.2 ± 0.35
Basal Part of Pons3.17 ± 0.59
Cerebellar Cortex3.82 ± 0.26
Cerebellar Nuclei3.47 ± 0.58
Claustrum3.69 ± 0.69
Epithalamus3.22 ± 0.67
Frontal Lobe3.41 ± 0.61
Globus Pallidus2.87 ± 0.81
Hypothalamus3.23 ± 0.62
Insula3.46 ± 0.87
Limbic Lobe3.24 ± 0.61
Mesencephalon3.56 ± 0.71
Myelencephalon3.35 ± 0.66
Occipital Lobe3.47 ± 0.61
Parietal Lobe3.43 ± 0.67
Pontine Tegmentum3.38 ± 0.65
Striatum2.85 ± 0.74
Subthalamus3.35 ± 0.68
Temporal Lobe3.36 ± 0.7
Thalamus3.28 ± 0.74
White Matter3.35 ± 0.79
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00008040 17 77 93 TVLIHCPEKISENKFLK 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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