AutismKB 2.0

Annotation Detail for POLR3H


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Basic Information Top
Gene Symbol:POLR3H ( KIAA1665,MGC111097,MGC29654,RPC22.9,RPC8 )
Gene Full Name: polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)
Band: 22q13.2
Quick LinksEntrez ID:171568; OMIM: NA; Uniprot ID:RPC8_HUMAN; ENSEMBL ID: ENSG00000100413; HGNC ID: 30349
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
blastocyst2 / 6231932
fetus32 / 56401256
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult97 / 193912150
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor14 / 26384553
glioma10 / 10688393
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma7 / 7175597
non-neoplasia3 / 9725030
normal175 / 336030752
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS36 / 125680286
prostate cancer4 / 10268038
retinoblastoma4 / 4635686
skin tumor24 / 124949192
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites4 / 4001599
bladder0 / 297570 
blood3 / 12347824
bone6 / 7165583
bone marrow0 / 488010 
brain92 / 110098983
cervix2 / 4817141
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye17 / 21105480
heart4 / 8962644
intestine13 / 23447255
kidney6 / 21177728
larynx0 / 241450 
liver0 / 2077430 
lung22 / 33697465
lymph7 / 44270158
lymph node2 / 9161021
mammary gland6 / 15327139
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta15 / 28082553
prostate7 / 18934536
salivary gland0 / 201550 
skin30 / 210574142
spleen1 / 5395218
stomach1 / 9661910
testis12 / 33044236
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord6 / 13680438
uterus15 / 23287864
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P201496
  • 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
Amygdala6.32 ± 0.45
Basal Forebrain6.26 ± 0.26
Basal Part of Pons6.41 ± 0.31
Cerebellar Cortex6.4 ± 0.26
Cerebellar Nuclei5.77 ± 0.35
Claustrum6.36 ± 0.61
Epithalamus6.58 ± 0.33
Frontal Lobe6.39 ± 0.41
Globus Pallidus5.89 ± 0.3
Hypothalamus6.13 ± 0.28
Insula6.27 ± 0.35
Limbic Lobe6.28 ± 0.38
Mesencephalon6.21 ± 0.42
Myelencephalon6.27 ± 0.43
Occipital Lobe6.02 ± 0.29
Parietal Lobe6.21 ± 0.36
Pontine Tegmentum6.18 ± 0.4
Striatum5.94 ± 0.33
Subthalamus5.99 ± 0.28
Temporal Lobe6.34 ± 0.35
Thalamus6.28 ± 0.35
White Matter5.8 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Polr3hCBCerebellum15.09
37.76
Polr3hCTXCerebral cortex91.93
85.44
Polr3hHIPHippocampal region40.3
55.02
Polr3hHPFHippocampal formation46.76
55.12
Polr3hHYHypothalamus18.47
18.03
Polr3hLSXLateral septal complex27.59
23.89
Polr3hMBMidbrain10.93
14.14
Polr3hMYMedulla9.86
16.84
Polr3hOLFOlfactory bulb60.93
56.63
Polr3hPPons9.78
14.87
Polr3hPALPallidum27.78
27.54
Polr3hRHPRetrohippocampal region58.48
56.37
Polr3hsAMYStriatum-like amygdalar nuclei27.24
25.35
Polr3hSTRStriatum34.26
28.44
Polr3hSTRdStriatum dorsal region29.77
25.19
Polr3hSTRvStriatum ventral region54.59
40.48
Polr3hTHThalamus33
33.65
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00516066 28 123 150 VVDESFVDTSPTGPSSADATTSSEELPK 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