AutismKB 2.0

Annotation Detail for PHLDB1


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Basic Information Top
Gene Symbol:PHLDB1 ( DKFZp686H039,DKFZp686O24210,FLJ00141,FLJ90266,KIAA0638,LL5A,MGC111531 )
Gene Full Name: pleckstrin homology-like domain, family B, member 1
Band: 11q23.3
Quick LinksEntrez ID:23187; OMIM: 612834; Uniprot ID:PHLB1_HUMAN; ENSEMBL ID: ENSG00000019144; HGNC ID: 23697
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 body16 / 70761226
blastocyst14 / 62319224
fetus35 / 56401262
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult226 / 1939121116
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor10 / 11424687
esophageal tumor3 / 17290173
gastrointestinal tumor5 / 11936941
germ cell tumor18 / 26384568
glioma36 / 106883336
head and neck tumor14 / 136302102
kidney tumor8 / 68959116
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal268 / 336030779
ovarian tumor26 / 76682339
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor21 / 124949168
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood2 / 12347816
bone9 / 71655125
bone marrow2 / 4880140
brain124 / 1100989112
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue36 / 215722166
esophagus3 / 20209148
eye23 / 211054108
heart11 / 89626122
intestine19 / 23447281
kidney18 / 21177784
larynx4 / 24145165
liver2 / 2077439
lung32 / 33697494
lymph0 / 442700 
lymph node0 / 916100 
mammary gland13 / 15327184
mouth4 / 6705259
muscle8 / 10771574
nerve5 / 15768317
ovary30 / 102051293
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta17 / 28082560
prostate6 / 18934531
salivary gland2 / 2015599
skin26 / 210574123
spleen1 / 5395218
stomach9 / 9661993
testis23 / 33044269
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus23 / 23287898
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212134_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.4
Adipocyte66.55
AdrenalCortex42.6
Adrenalgland30.9
Amygdala38.4
Appendix37.4
AtrioventricularNode47.45
BDCA4+_DentriticCells16.2
Bonemarrow22.2
BronchialEpithelialCells19.15
CD105+_Endothelial15.45
CD14+_Monocytes17.5
CD19+_BCells(neg._sel.)15
CD33+_Myeloid28.85
CD34+28.75
CD4+_Tcells30.75
CD56+_NKCells21.15
CD71+_EarlyErythroid21.7
CD8+_Tcells16.7
CardiacMyocytes49.45
Caudatenucleus43.7
Cerebellum18.9
CerebellumPeduncles66.9
CiliaryGanglion43.3
CingulateCortex65.4
Colorectaladenocarcinoma60.3
DorsalRootGanglion52
FetalThyroid30.75
Fetalbrain45.3
Fetalliver14.65
Fetallung16.35
GlobusPallidus34.9
Heart28.2
Hypothalamus136.35
Kidney17.2
Leukemia_chronicMyelogenousK-56229.65
Leukemia_promyelocytic-HL-6020.3
Leukemialymphoblastic(MOLT-4)24.75
Liver20.85
Lung23.65
Lymphnode23.35
Lymphoma_burkitts(Daudi)29.25
Lymphoma_burkitts(Raji)23.4
MedullaOblongata46
OccipitalLobe73.35
OlfactoryBulb45.55
Ovary21.35
Pancreas23.8
PancreaticIslet32.15
ParietalLobe59.25
Pituitary26.2
Placenta27.3
Pons50.8
PrefrontalCortex78.75
Prostate16.3
Salivarygland28
SkeletalMuscle44
Skin27.25
SmoothMuscle44.1
Spinalcord120.7
SubthalamicNucleus66.2
SuperiorCervicalGanglion29.6
TemporalLobe33.8
Testis32.9
TestisGermCell24.4
TestisIntersitial23.1
TestisLeydigCell26
TestisSeminiferousTubule32.25
Thalamus89.55
Thymus10.5
Thyroid19.7
Tongue38.7
Tonsil30.1
Trachea19.85
TrigeminalGanglion64.9
Uterus16.15
UterusCorpus18.2
WholeBlood14.45
Wholebrain19
colon13.7
pineal_day53.32
pineal_night37.14
retina53.175
small_intestine17.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9686_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
Amygdala4.23 ± 0.54
Basal Forebrain5.18 ± 0.59
Basal Part of Pons4.86 ± 0.85
Cerebellar Cortex4.67 ± 0.38
Cerebellar Nuclei5.34 ± 0.83
Claustrum4.13 ± 0.78
Epithalamus4.65 ± 0.78
Frontal Lobe4.66 ± 0.87
Globus Pallidus6.34 ± 0.33
Hypothalamus4.67 ± 1.02
Insula4.29 ± 0.47
Limbic Lobe4.39 ± 0.75
Mesencephalon4.85 ± 0.97
Myelencephalon4.86 ± 0.71
Occipital Lobe4.8 ± 0.77
Parietal Lobe4.53 ± 0.75
Pontine Tegmentum4.81 ± 0.66
Striatum5.39 ± 0.66
Subthalamus4.79 ± 0.38
Temporal Lobe4.56 ± 0.65
Thalamus5.24 ± 0.6
White Matter7.8 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phldb1CBCerebellum100
100
Phldb1CTXCerebral cortex79.42
61.58
Phldb1HIPHippocampal region66.83
74.39
Phldb1HPFHippocampal formation74.08
71.52
Phldb1HYHypothalamus60.41
47.24
Phldb1LSXLateral septal complex61.75
46.69
Phldb1MBMidbrain98.1
83.57
Phldb1MYMedulla100
100
Phldb1OLFOlfactory bulb88.89
82.28
Phldb1PPons100
100
Phldb1PALPallidum73.81
61.59
Phldb1RHPRetrohippocampal region84.86
66.67
Phldb1sAMYStriatum-like amygdalar nuclei69.36
53.25
Phldb1STRStriatum73.46
58.37
Phldb1STRdStriatum dorsal region74.92
61.31
Phldb1STRvStriatum ventral region76.94
57.71
Phldb1THThalamus64.73
54.52
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096001 17 179 195 GPSACASHSSLVSSIEK 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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