AutismKB 2.0

Annotation Detail for POMP


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Basic Information Top
Gene Symbol:POMP ( C13orf12,PNAS-110,UMP1 )
Gene Full Name: proteasome maturation protein
Band: 13q12.3
Quick LinksEntrez ID:51371; OMIM: 613386; Uniprot ID:POMP_HUMAN; ENSEMBL ID: ENSG00000132963; HGNC ID: 20330
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
fetus33 / 56401258
neonate6 / 31097192
infant1 / 2362042
juvenile0 / 555560 
adult187 / 193912196
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma5 / 17475286
breast (mammary gland) tumor12 / 94178127
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor27 / 263845102
glioma13 / 106883121
head and neck tumor18 / 136302132
kidney tumor8 / 68959116
leukemia16 / 95842166
liver tumor5 / 9635951
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal350 / 3360307104
ovarian tumor1 / 7668213
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer16 / 102680155
retinoblastoma1 / 4635621
skin tumor18 / 124949144
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland7 / 33197210
ascites6 / 40015149
bladder5 / 29757168
blood28 / 123478226
bone5 / 7165569
bone marrow22 / 48801450
brain54 / 110098949
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye16 / 21105475
heart11 / 89626122
intestine24 / 234472102
kidney20 / 21177794
larynx2 / 2414582
liver34 / 207743163
lung38 / 336974112
lymph0 / 442700 
lymph node3 / 9161032
mammary gland18 / 153271117
mouth5 / 6705274
muscle11 / 107715102
nerve1 / 1576863
ovary3 / 10205129
pancreas25 / 214812116
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta28 / 28082599
prostate25 / 189345132
salivary gland12 / 20155595
skin27 / 210574128
spleen2 / 5395237
stomach10 / 96619103
testis38 / 330442114
thymus3 / 8113136
thyroid9 / 47473189
tonsil2 / 16999117
trachea1 / 5241319
umbilical cord6 / 13680438
uterus23 / 23287898
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217769_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts2412.75
Adipocyte729.45
AdrenalCortex283.25
Adrenalgland340.75
Amygdala531.7
Appendix115.3
AtrioventricularNode124
BDCA4+_DentriticCells1239.6
Bonemarrow251.3
BronchialEpithelialCells1606
CD105+_Endothelial1696.85
CD14+_Monocytes934.35
CD19+_BCells(neg._sel.)676.25
CD33+_Myeloid1058.25
CD34+1078
CD4+_Tcells380.05
CD56+_NKCells945
CD71+_EarlyErythroid1049.45
CD8+_Tcells375.1
CardiacMyocytes1623.85
Caudatenucleus300.9
Cerebellum191.05
CerebellumPeduncles187.6
CiliaryGanglion123.75
CingulateCortex326.8
Colorectaladenocarcinoma761.4
DorsalRootGanglion227.85
FetalThyroid481.65
Fetalbrain373.95
Fetalliver412.65
Fetallung508.75
GlobusPallidus264.6
Heart172.1
Hypothalamus678.7
Kidney181.2
Leukemia_chronicMyelogenousK-562769
Leukemia_promyelocytic-HL-60941.05
Leukemialymphoblastic(MOLT-4)718.65
Liver214.5
Lung211.65
Lymphnode283.1
Lymphoma_burkitts(Daudi)1101.55
Lymphoma_burkitts(Raji)450.55
MedullaOblongata325.4
OccipitalLobe418.2
OlfactoryBulb360.15
Ovary147.2
Pancreas659.65
PancreaticIslet530.95
ParietalLobe315.7
Pituitary286.05
Placenta505.1
Pons242.6
PrefrontalCortex809.9
Prostate307
Salivarygland372.1
SkeletalMuscle209.1
Skin136.75
SmoothMuscle1775.05
Spinalcord660.5
SubthalamicNucleus442.6
SuperiorCervicalGanglion94.45
TemporalLobe417.9
Testis627.9
TestisGermCell954.5
TestisIntersitial1179.9
TestisLeydigCell687.35
TestisSeminiferousTubule572.65
Thalamus477.05
Thymus232.1
Thyroid437.3
Tongue262.45
Tonsil513.75
Trachea274.75
TrigeminalGanglion129.45
Uterus235
UterusCorpus162.55
WholeBlood608
Wholebrain611.45
colon707.6
pineal_day867.56
pineal_night889.18
retina604.5
small_intestine671.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P65254
  • 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
Amygdala10.41 ± 0.17
Basal Forebrain10.16 ± 0.23
Basal Part of Pons10.22 ± 0.24
Cerebellar Cortex10.09 ± 0.16
Cerebellar Nuclei10.43 ± 0.23
Claustrum10.35 ± 0.15
Epithalamus10.08 ± 0.35
Frontal Lobe10.37 ± 0.24
Globus Pallidus10.7 ± 0.11
Hypothalamus10.42 ± 0.25
Insula10.33 ± 0.25
Limbic Lobe10.37 ± 0.27
Mesencephalon10.44 ± 0.31
Myelencephalon10.3 ± 0.24
Occipital Lobe10.28 ± 0.19
Parietal Lobe10.34 ± 0.24
Pontine Tegmentum10.39 ± 0.26
Striatum10.35 ± 0.21
Subthalamus10.52 ± 0.19
Temporal Lobe10.28 ± 0.2
Thalamus10.27 ± 0.18
White Matter10.72 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PompCBCerebellum30.67
59.5
PompCTXCerebral cortex96.56
93.15
PompHIPHippocampal region65.78
88.19
PompHPFHippocampal formation74.23
83.17
PompHYHypothalamus42.98
29.99
PompLSXLateral septal complex43.34
25.47
PompMBMidbrain52.79
48.14
PompMYMedulla58
77.83
PompOLFOlfactory bulb77.57
82.85
PompPPons54.36
63.94
PompPALPallidum42.74
36.1
PompRHPRetrohippocampal region77.72
73.76
PompsAMYStriatum-like amygdalar nuclei52.57
33.84
PompSTRStriatum45.22
27.25
PompSTRdStriatum dorsal region45.98
26.98
PompSTRvStriatum ventral region40.9
26.09
PompTHThalamus64.67
53
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00068492 28 5 32 GLGSELKDSIPVTELSASGPFESHDLLR 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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