AutismKB 2.0

Annotation Detail for BPHL


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Basic Information Top
Gene Symbol:BPHL ( BPH-RP,MCNAA,MGC125930,MGC41865,VACVASE )
Gene Full Name: biphenyl hydrolase-like (serine hydrolase)
Band: 6p25.2
Quick LinksEntrez ID:670; OMIM: 603156; Uniprot ID:BPHL_HUMAN; ENSEMBL ID: ENSG00000137274; HGNC ID: 1094
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
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult47 / 193912124
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma6 / 10688356
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor11 / 96359114
lung tumor8 / 10312777
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal66 / 336030719
ovarian tumor8 / 76682104
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain29 / 110098926
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine4 / 23447217
kidney19 / 21177789
larynx0 / 241450 
liver12 / 20774357
lung19 / 33697456
lymph2 / 4427045
lymph node0 / 916100 
mammary gland9 / 15327158
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary8 / 10205178
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate2 / 18934510
salivary gland1 / 2015549
skin1 / 2105744
spleen1 / 5395218
stomach0 / 966190 
testis5 / 33044215
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205750_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.55
Adipocyte7.9
AdrenalCortex8.4
Adrenalgland6.95
Amygdala8.55
Appendix8.15
AtrioventricularNode7.9
BDCA4+_DentriticCells8.4
Bonemarrow7.9
BronchialEpithelialCells8.05
CD105+_Endothelial8.2
CD14+_Monocytes8.4
CD19+_BCells(neg._sel.)8.2
CD33+_Myeloid10.35
CD34+9.7
CD4+_Tcells8.5
CD56+_NKCells8.65
CD71+_EarlyErythroid7.55
CD8+_Tcells7.85
CardiacMyocytes10.1
Caudatenucleus7.2
Cerebellum6.5
CerebellumPeduncles9.1
CiliaryGanglion6.05
CingulateCortex8.2
Colorectaladenocarcinoma8.25
DorsalRootGanglion7
FetalThyroid7.85
Fetalbrain8.85
Fetalliver9.55
Fetallung6.4
GlobusPallidus5.85
Heart10.7
Hypothalamus8.95
Kidney37.15
Leukemia_chronicMyelogenousK-56210
Leukemia_promyelocytic-HL-608.15
Leukemialymphoblastic(MOLT-4)6.95
Liver29.3
Lung8.85
Lymphnode6.95
Lymphoma_burkitts(Daudi)10.35
Lymphoma_burkitts(Raji)11.5
MedullaOblongata7.25
OccipitalLobe7.3
OlfactoryBulb6.45
Ovary5.35
Pancreas8.8
PancreaticIslet13.6
ParietalLobe8.45
Pituitary9.5
Placenta7.75
Pons7.65
PrefrontalCortex10.15
Prostate19.8
Salivarygland6.4
SkeletalMuscle9.2
Skin6.3
SmoothMuscle8.8
Spinalcord8.35
SubthalamicNucleus7.3
SuperiorCervicalGanglion9.15
TemporalLobe7.35
Testis6.95
TestisGermCell6.65
TestisIntersitial6.8
TestisLeydigCell7.95
TestisSeminiferousTubule6.8
Thalamus8.15
Thymus6.75
Thyroid10.3
Tongue8.5
Tonsil7.85
Trachea6.75
TrigeminalGanglion8.25
Uterus6.75
UterusCorpus7.15
WholeBlood8.85
Wholebrain6.95
colon8.3
pineal_day10.14
pineal_night9.84
retina9.85
small_intestine17.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P42087
  • 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
Amygdala7.05 ± 0.26
Basal Forebrain7.14 ± 0.27
Basal Part of Pons7.31 ± 0.17
Cerebellar Cortex7.17 ± 0.25
Cerebellar Nuclei6.7 ± 0.31
Claustrum6.98 ± 0.35
Epithalamus7.16 ± 0.27
Frontal Lobe7.13 ± 0.27
Globus Pallidus6.69 ± 0.3
Hypothalamus7.25 ± 0.41
Insula7.21 ± 0.21
Limbic Lobe7.27 ± 0.25
Mesencephalon6.98 ± 0.35
Myelencephalon7.05 ± 0.38
Occipital Lobe6.7 ± 0.25
Parietal Lobe6.94 ± 0.35
Pontine Tegmentum6.93 ± 0.39
Striatum6.77 ± 0.33
Subthalamus7.08 ± 0.06
Temporal Lobe7.17 ± 0.32
Thalamus6.84 ± 0.34
White Matter6.38 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BphlCBCerebellum24.45
72.58
BphlCTXCerebral cortex42.09
33.05
BphlHIPHippocampal region37.04
47.81
BphlHPFHippocampal formation39.09
43.47
BphlHYHypothalamus31.47
27.97
BphlLSXLateral septal complex20.65
17.18
BphlMBMidbrain35.69
36.37
BphlMYMedulla62.14
77.8
BphlOLFOlfactory bulb38.1
30.4
BphlPPons42.1
51.69
BphlPALPallidum36.48
35.34
BphlRHPRetrohippocampal region43.6
38.25
BphlsAMYStriatum-like amygdalar nuclei31.2
26.5
BphlSTRStriatum31.33
23.72
BphlSTRdStriatum dorsal region30.65
23.28
BphlSTRvStriatum ventral region36.72
23.96
BphlTHThalamus55.96
56.2
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BPHL_HUMAN_215 12 215 226 QFKHLPDGNICR PRIDE
PAp00008539 18 232 249 VQCPALIVHGEKDPLVPR 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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