AutismKB 2.0

Annotation Detail for POLRMT


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Basic Information Top
Gene Symbol:POLRMT ( APOLMT,MTRNAP,MTRPOL,h-mtRPOL )
Gene Full Name: polymerase (RNA) mitochondrial (DNA directed)
Band: 19p13.3
Quick LinksEntrez ID:5442; OMIM: 601778; Uniprot ID:RPOM_HUMAN; ENSEMBL ID: ENSG00000099821; HGNC ID: 9200
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 body6 / 7076184
blastocyst5 / 6231980
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult42 / 193912121
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor3 / 26384511
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor5 / 6895972
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma5 / 7175569
non-neoplasia1 / 9725010
normal91 / 336030727
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain26 / 110098923
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye13 / 21105461
heart2 / 8962622
intestine3 / 23447212
kidney11 / 21177751
larynx0 / 241450 
liver1 / 2077434
lung7 / 33697420
lymph3 / 4427067
lymph node2 / 9161021
mammary gland6 / 15327139
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary8 / 10205178
pancreas3 / 21481213
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach2 / 9661920
testis9 / 33044227
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203782_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts22.25
Adipocyte3.9
AdrenalCortex4.05
Adrenalgland3.65
Amygdala4.4
Appendix4
AtrioventricularNode2.9
BDCA4+_DentriticCells26.55
Bonemarrow3.9
BronchialEpithelialCells5.25
CD105+_Endothelial4.75
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)17.7
CD33+_Myeloid5.25
CD34+19.6
CD4+_Tcells21.45
CD56+_NKCells11.65
CD71+_EarlyErythroid3.65
CD8+_Tcells27.85
CardiacMyocytes4.95
Caudatenucleus4.25
Cerebellum3.35
CerebellumPeduncles4.65
CiliaryGanglion2.75
CingulateCortex6.95
Colorectaladenocarcinoma7.15
DorsalRootGanglion2.9
FetalThyroid6.65
Fetalbrain3.8
Fetalliver3.5
Fetallung3.35
GlobusPallidus2.8
Heart74.7
Hypothalamus5.9
Kidney3.25
Leukemia_chronicMyelogenousK-56224.4
Leukemia_promyelocytic-HL-603.8
Leukemialymphoblastic(MOLT-4)20.05
Liver35.65
Lung7.7
Lymphnode4.3
Lymphoma_burkitts(Daudi)5.3
Lymphoma_burkitts(Raji)14.3
MedullaOblongata3.8
OccipitalLobe3.65
OlfactoryBulb3.2
Ovary2.55
Pancreas3.1
PancreaticIslet4.4
ParietalLobe4.2
Pituitary4.55
Placenta4.05
Pons3.8
PrefrontalCortex14.4
Prostate4.75
Salivarygland3.1
SkeletalMuscle4.35
Skin2.9
SmoothMuscle4.45
Spinalcord4.4
SubthalamicNucleus3.7
SuperiorCervicalGanglion4.45
TemporalLobe3.75
Testis172.55
TestisGermCell39.7
TestisIntersitial13.2
TestisLeydigCell13.95
TestisSeminiferousTubule33.4
Thalamus4.55
Thymus10.65
Thyroid7.1
Tongue3.65
Tonsil3.9
Trachea3.2
TrigeminalGanglion3.75
Uterus3.7
UterusCorpus3.45
WholeBlood5.25
Wholebrain19.15
colon3.95
pineal_day13.64
pineal_night12.68
retina5.65
small_intestine3.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_198_PI417507815
  • 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
Amygdala7 ± 0.37
Basal Forebrain7.05 ± 0.34
Basal Part of Pons7.3 ± 0.24
Cerebellar Cortex7 ± 0.22
Cerebellar Nuclei7.17 ± 0.21
Claustrum6.82 ± 0.36
Epithalamus6.82 ± 0.28
Frontal Lobe7.28 ± 0.36
Globus Pallidus6.87 ± 0.28
Hypothalamus7.09 ± 0.29
Insula7.13 ± 0.33
Limbic Lobe7.14 ± 0.38
Mesencephalon7.1 ± 0.4
Myelencephalon7.17 ± 0.36
Occipital Lobe6.9 ± 0.38
Parietal Lobe7.18 ± 0.31
Pontine Tegmentum7.11 ± 0.31
Striatum7.21 ± 0.45
Subthalamus7.05 ± 0.26
Temporal Lobe7.21 ± 0.3
Thalamus7.33 ± 0.37
White Matter7.03 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PolrmtCBCerebellum12.76
12.24
PolrmtCTXCerebral cortex10.6
7.58
PolrmtHIPHippocampal region9.88
9
PolrmtHPFHippocampal formation9.6
7.92
PolrmtHYHypothalamus0.9
0.59
PolrmtLSXLateral septal complex0.21
0.2
PolrmtMBMidbrain2.87
2.71
PolrmtMYMedulla8.48
8.55
PolrmtOLFOlfactory bulb8.53
5.44
PolrmtPPons6.49
7.32
PolrmtPALPallidum1.28
1.09
PolrmtRHPRetrohippocampal region9.33
6.53
PolrmtsAMYStriatum-like amygdalar nuclei1.22
1.08
PolrmtSTRStriatum1.56
1.25
PolrmtSTRdStriatum dorsal region1.9
1.55
PolrmtSTRvStriatum ventral region0.8
0.56
PolrmtTHThalamus8.21
5.99
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002713 30 725 754 GCPQLGVPAPPSEAPQPPEAHLPHSAAPAR Peptide Atlas
RPOM_HUMAN_309 10 309 318 QDQDAGTIER PRIDE
RPOM_HUMAN_41 13 41 53 SSSASPQEQDQDR 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