AutismKB 2.0

Annotation Detail for POLR1C


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Basic Information Top
Gene Symbol:POLR1C ( RPA39,RPA40,RPA5,RPAC1 )
Gene Full Name: polymerase (RNA) I polypeptide C, 30kDa
Band: 6p21.1
Quick LinksEntrez ID:9533; OMIM: 610060; Uniprot ID:RPAC1_HUMAN; ENSEMBL ID: ENSG00000171453; HGNC ID: 20194
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 body5 / 7076170
blastocyst3 / 6231948
fetus21 / 56401237
neonate2 / 3109764
infant0 / 236200 
juvenile3 / 5555653
adult74 / 193912138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor5 / 9417853
cervical tumor3 / 3436687
chondrosarcoma7 / 8282384
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor13 / 119369108
germ cell tumor18 / 26384568
glioma5 / 10688346
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia7 / 9584273
liver tumor5 / 9635951
lung tumor6 / 10312758
lymphoma7 / 7175597
non-neoplasia2 / 9725020
normal127 / 336030737
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer3 / 10268029
retinoblastoma4 / 4635686
skin tumor16 / 124949128
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites4 / 4001599
bladder2 / 2975767
blood17 / 123478137
bone8 / 71655111
bone marrow2 / 4880140
brain35 / 110098931
cervix6 / 48171124
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus1 / 2020949
eye10 / 21105447
heart5 / 8962655
intestine7 / 23447229
kidney11 / 21177751
larynx0 / 241450 
liver14 / 20774367
lung16 / 33697447
lymph4 / 4427090
lymph node1 / 9161010
mammary gland9 / 15327158
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary7 / 10205168
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta14 / 28082549
prostate8 / 18934542
salivary gland1 / 2015549
skin19 / 21057490
spleen0 / 539520 
stomach10 / 96619103
testis9 / 33044227
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209317_at
Cell line Expression level Expression bar
721_B_lymphoblasts40.6
Adipocyte9.5
AdrenalCortex13.55
Adrenalgland8.15
Amygdala8.95
Appendix9.65
AtrioventricularNode7.4
BDCA4+_DentriticCells16.25
Bonemarrow8.9
BronchialEpithelialCells31.95
CD105+_Endothelial15.7
CD14+_Monocytes9.55
CD19+_BCells(neg._sel.)17.3
CD33+_Myeloid11.25
CD34+123.5
CD4+_Tcells20
CD56+_NKCells10.45
CD71+_EarlyErythroid8.3
CD8+_Tcells17.3
CardiacMyocytes11.35
Caudatenucleus8.15
Cerebellum8.1
CerebellumPeduncles10.5
CiliaryGanglion6.95
CingulateCortex10.75
Colorectaladenocarcinoma9
DorsalRootGanglion7
FetalThyroid13.95
Fetalbrain10.45
Fetalliver7.45
Fetallung13.65
GlobusPallidus6.6
Heart10.75
Hypothalamus11.95
Kidney7.45
Leukemia_chronicMyelogenousK-56218.5
Leukemia_promyelocytic-HL-6080.7
Leukemialymphoblastic(MOLT-4)13.65
Liver11.75
Lung9.9
Lymphnode9.7
Lymphoma_burkitts(Daudi)14.85
Lymphoma_burkitts(Raji)27.75
MedullaOblongata9.8
OccipitalLobe8.15
OlfactoryBulb7.3
Ovary8.35
Pancreas7.8
PancreaticIslet11.5
ParietalLobe10.95
Pituitary10.6
Placenta8.85
Pons8.8
PrefrontalCortex11.3
Prostate10.3
Salivarygland8.1
SkeletalMuscle17.85
Skin7.9
SmoothMuscle10.05
Spinalcord9.5
SubthalamicNucleus9.85
SuperiorCervicalGanglion14
TemporalLobe16.05
Testis31.8
TestisGermCell10.25
TestisIntersitial12.75
TestisLeydigCell10.15
TestisSeminiferousTubule13.75
Thalamus11.55
Thymus9.95
Thyroid12.4
Tongue10.85
Tonsil10.65
Trachea7.5
TrigeminalGanglion14
Uterus7.65
UterusCorpus8.9
WholeBlood9.85
Wholebrain8.15
colon9.05
pineal_day11.3
pineal_night11.76
retina11.4
small_intestine12.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5541_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
Amygdala4.45 ± 0.42
Basal Forebrain4.36 ± 0.41
Basal Part of Pons4.46 ± 0.38
Cerebellar Cortex4.67 ± 0.46
Cerebellar Nuclei4.09 ± 0.58
Claustrum4.11 ± 0.71
Epithalamus4.88 ± 0.4
Frontal Lobe4.6 ± 0.45
Globus Pallidus4.03 ± 0.34
Hypothalamus4.44 ± 0.46
Insula4.53 ± 0.26
Limbic Lobe4.25 ± 0.54
Mesencephalon4.58 ± 0.56
Myelencephalon4.38 ± 0.49
Occipital Lobe4.21 ± 0.35
Parietal Lobe4.36 ± 0.5
Pontine Tegmentum4.38 ± 0.43
Striatum4.27 ± 0.51
Subthalamus4.14 ± 0.38
Temporal Lobe4.5 ± 0.46
Thalamus4.35 ± 0.37
White Matter4.38 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rpo1-1CBCerebellum13.79
16.43
Rpo1-1CTXCerebral cortex14.27
10.58
Rpo1-1HIPHippocampal region11.75
11.76
Rpo1-1HPFHippocampal formation10.07
9.22
Rpo1-1HYHypothalamus1.3
0.95
Rpo1-1LSXLateral septal complex0.66
0.5
Rpo1-1MBMidbrain6.27
5.69
Rpo1-1MYMedulla9.2
10.56
Rpo1-1OLFOlfactory bulb9.66
7.14
Rpo1-1PPons7.51
8.07
Rpo1-1PALPallidum1.7
1.4
Rpo1-1RHPRetrohippocampal region7.69
6.04
Rpo1-1sAMYStriatum-like amygdalar nuclei0.7
0.47
Rpo1-1STRStriatum1.66
1.35
Rpo1-1STRdStriatum dorsal region2.08
1.78
Rpo1-1STRvStriatum ventral region1.06
0.66
Rpo1-1THThalamus3.52
3.27
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000976 15 256 270 CFSPGVIEVQEVQGK Peptide Atlas
RPAC1_HUMAN_15 8 15 22 VLGEFGVR PRIDE
RPAC1_HUMAN_2 10 2 11 AASQAVEEMR 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