AutismKB 2.0

Annotation Detail for PUM1


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Basic Information Top
Gene Symbol:PUM1 ( HSPUM,KIAA0099,PUMH,PUMH1,PUML1 )
Gene Full Name: pumilio homolog 1 (Drosophila)
Band: 1p35.2
Quick LinksEntrez ID:9698; OMIM: 607204; Uniprot ID:PUM1_HUMAN; ENSEMBL ID: ENSG00000134644; HGNC ID: 14957
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 body12 / 70761169
blastocyst8 / 62319128
fetus116 / 564012205
neonate3 / 3109796
infant1 / 2362042
juvenile6 / 55556107
adult194 / 1939121100
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor3 / 3436687
chondrosarcoma5 / 8282360
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor36 / 263845136
glioma11 / 106883102
head and neck tumor34 / 136302249
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor5 / 9635951
lung tumor1 / 1031279
lymphoma9 / 71755125
non-neoplasia6 / 9725061
normal481 / 3360307143
ovarian tumor3 / 7668239
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer7 / 10268068
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland4 / 33197120
ascites7 / 40015174
bladder4 / 29757134
blood7 / 12347856
bone5 / 7165569
bone marrow3 / 4880161
brain190 / 1100989172
cervix10 / 48171207
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue44 / 215722203
esophagus0 / 202090 
eye18 / 21105485
heart16 / 89626178
intestine14 / 23447259
kidney17 / 21177780
larynx2 / 2414582
liver6 / 20774328
lung41 / 336974121
lymph6 / 44270135
lymph node16 / 91610174
mammary gland12 / 15327178
mouth28 / 67052417
muscle11 / 107715102
nerve1 / 1576863
ovary5 / 10205148
pancreas28 / 214812130
parathyroid0 / 205390 
pharynx8 / 41328193
pituitary gland2 / 16585120
placenta43 / 280825153
prostate13 / 18934568
salivary gland0 / 201550 
skin17 / 21057480
spleen5 / 5395292
stomach6 / 9661962
testis45 / 330442136
thymus7 / 8113186
thyroid4 / 4747384
tonsil0 / 169990 
trachea22 / 52413419
umbilical cord5 / 13680365
uterus37 / 232878158
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201164_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts142.1
Adipocyte78.8
AdrenalCortex50.35
Adrenalgland73.45
Amygdala97.05
Appendix38.3
AtrioventricularNode38.35
BDCA4+_DentriticCells152.5
Bonemarrow51.7
BronchialEpithelialCells87.95
CD105+_Endothelial70.4
CD14+_Monocytes167.6
CD19+_BCells(neg._sel.)127.85
CD33+_Myeloid318.95
CD34+136.9
CD4+_Tcells248.4
CD56+_NKCells197.35
CD71+_EarlyErythroid60.7
CD8+_Tcells301.25
CardiacMyocytes71.3
Caudatenucleus43.8
Cerebellum79.3
CerebellumPeduncles138.35
CiliaryGanglion29.7
CingulateCortex103.9
Colorectaladenocarcinoma91.75
DorsalRootGanglion37.35
FetalThyroid95.85
Fetalbrain101.9
Fetalliver50.9
Fetallung68.4
GlobusPallidus57.1
Heart47.35
Hypothalamus85.45
Kidney44.05
Leukemia_chronicMyelogenousK-56254
Leukemia_promyelocytic-HL-6050.4
Leukemialymphoblastic(MOLT-4)83.15
Liver48.65
Lung101
Lymphnode42.9
Lymphoma_burkitts(Daudi)96.6
Lymphoma_burkitts(Raji)50.8
MedullaOblongata69.25
OccipitalLobe78.05
OlfactoryBulb83.55
Ovary32.15
Pancreas47.7
PancreaticIslet92
ParietalLobe91.2
Pituitary101.2
Placenta170.7
Pons74.35
PrefrontalCortex338.9
Prostate207
Salivarygland54.05
SkeletalMuscle41.05
Skin32.6
SmoothMuscle110.6
Spinalcord35.25
SubthalamicNucleus46.15
SuperiorCervicalGanglion39.65
TemporalLobe71.85
Testis50.05
TestisGermCell58.8
TestisIntersitial64.05
TestisLeydigCell59
TestisSeminiferousTubule49.45
Thalamus51
Thymus123.7
Thyroid79.15
Tongue43.85
Tonsil63.1
Trachea74.15
TrigeminalGanglion28.25
Uterus111.75
UterusCorpus51.9
WholeBlood47.35
Wholebrain94.5
colon84.6
pineal_day239.66
pineal_night203.8
retina107.525
small_intestine88.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P171345
  • 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
Amygdala8.57 ± 0.24
Basal Forebrain8.17 ± 0.25
Basal Part of Pons8.36 ± 0.17
Cerebellar Cortex8.29 ± 0.27
Cerebellar Nuclei8.04 ± 0.15
Claustrum8.43 ± 0.3
Epithalamus8.4 ± 0.25
Frontal Lobe8.22 ± 0.25
Globus Pallidus7.98 ± 0.2
Hypothalamus8.5 ± 0.31
Insula8.32 ± 0.21
Limbic Lobe8.43 ± 0.23
Mesencephalon8.3 ± 0.32
Myelencephalon8.29 ± 0.24
Occipital Lobe8.44 ± 0.18
Parietal Lobe8.31 ± 0.23
Pontine Tegmentum8.26 ± 0.28
Striatum8.25 ± 0.27
Subthalamus8.37 ± 0.18
Temporal Lobe8.36 ± 0.21
Thalamus8.21 ± 0.2
White Matter8.24 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pum1CBCerebellum0
0
Pum1CTXCerebral cortex0
0
Pum1HIPHippocampal region0
0
Pum1HPFHippocampal formation0
0
Pum1HYHypothalamus0
0
Pum1LSXLateral septal complex0
0
Pum1MBMidbrain0
0
Pum1MYMedulla0
0
Pum1OLFOlfactory bulb0
0
Pum1PPons0
0
Pum1PALPallidum0
0
Pum1RHPRetrohippocampal region0
0
Pum1sAMYStriatum-like amygdalar nuclei0
0
Pum1STRStriatum0
0
Pum1STRdStriatum dorsal region0
0
Pum1STRvStriatum ventral region0
0
Pum1THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00076789 19 193 211 RPGQSFHVNSEVNSVLSPR Peptide Atlas
PUM1_HUMAN_2 8 2 9 SVACVLKR PRIDE
PUM1_HUMAN_75 13 75 87 SQDDAMVDYFFQR PRIDE
PUM1_HUMAN_848 17 848 864 EIAGHIMEFSQDQHGSR 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


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