AutismKB 2.0

Annotation Detail for PHLDB3


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Basic Information Top
Gene Symbol:PHLDB3 ( FLJ40193,MGC87511 )
Gene Full Name: pleckstrin homology-like domain, family B, member 3
Band: 19q13.31
Quick LinksEntrez ID:653583; OMIM: NA; Uniprot ID:PHLB3_HUMAN; ENSEMBL ID: ENSG00000176531; HGNC ID: 30499
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 body1 / 7076114
blastocyst1 / 6231916
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult20 / 193912110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal47 / 336030713
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye6 / 21105428
heart4 / 8962644
intestine5 / 23447221
kidney6 / 21177728
larynx0 / 241450 
liver0 / 2077430 
lung9 / 33697426
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary5 / 10205148
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach0 / 966190 
testis11 / 33044233
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
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_P184488
  • 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
Amygdala6.28 ± 0.33
Basal Forebrain5.92 ± 0.27
Basal Part of Pons5.73 ± 0.37
Cerebellar Cortex5.75 ± 0.15
Cerebellar Nuclei5.88 ± 0.38
Claustrum6.06 ± 0.33
Epithalamus6.61 ± 0.49
Frontal Lobe6.08 ± 0.39
Globus Pallidus6.25 ± 0.25
Hypothalamus5.91 ± 0.32
Insula6.15 ± 0.25
Limbic Lobe6.29 ± 0.38
Mesencephalon6.02 ± 0.44
Myelencephalon6.12 ± 0.46
Occipital Lobe5.95 ± 0.39
Parietal Lobe6.02 ± 0.38
Pontine Tegmentum6.18 ± 0.3
Striatum7.13 ± 0.27
Subthalamus5.79 ± 0.52
Temporal Lobe6.02 ± 0.31
Thalamus6.01 ± 0.35
White Matter6.04 ± 0.28
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00496180 26 482 507 GTEGSSGPAVPAITAPPTPPHPPGPR 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