AutismKB 2.0

Annotation Detail for PHPT1


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Basic Information Top
Gene Symbol:PHPT1 ( CGI-202,DKFZp564M173,HSPC141,PHP14,RP11-216L13.10,bA216L13.10 )
Gene Full Name: phosphohistidine phosphatase 1
Band: 9q34.3
Quick LinksEntrez ID:29085; OMIM: 610167; Uniprot ID:PHP14_HUMAN; ENSEMBL ID: ENSG00000054148; HGNC ID: 30033
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 body9 / 70761127
blastocyst6 / 6231996
fetus39 / 56401269
neonate1 / 3109732
infant1 / 2362042
juvenile2 / 5555635
adult131 / 193912167
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor9 / 26384534
glioma24 / 106883224
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia6 / 9584262
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal255 / 336030775
ovarian tumor5 / 7668265
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer3 / 10268029
retinoblastoma4 / 4635686
skin tumor10 / 12494980
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites6 / 40015149
bladder0 / 297570 
blood5 / 12347840
bone4 / 7165555
bone marrow2 / 4880140
brain57 / 110098951
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus1 / 2020949
eye23 / 211054108
heart22 / 89626245
intestine23 / 23447298
kidney17 / 21177780
larynx0 / 241450 
liver14 / 20774367
lung21 / 33697462
lymph0 / 442700 
lymph node2 / 9161021
mammary gland10 / 15327165
mouth1 / 6705214
muscle11 / 107715102
nerve1 / 1576863
ovary6 / 10205158
pancreas8 / 21481237
parathyroid8 / 20539389
pharynx5 / 41328120
pituitary gland4 / 16585241
placenta19 / 28082567
prostate11 / 18934558
salivary gland1 / 2015549
skin33 / 210574156
spleen4 / 5395274
stomach4 / 9661941
testis11 / 33044233
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus16 / 23287868
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_24_P184031
  • 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
Amygdala10.64 ± 0.21
Basal Forebrain10.65 ± 0.06
Basal Part of Pons10.77 ± 0.31
Cerebellar Cortex10.28 ± 0.17
Cerebellar Nuclei10.79 ± 0.2
Claustrum10.25 ± 0.5
Epithalamus10.84 ± 0.12
Frontal Lobe10.64 ± 0.28
Globus Pallidus11.19 ± 0.26
Hypothalamus10.78 ± 0.18
Insula10.82 ± 0.26
Limbic Lobe10.37 ± 0.44
Mesencephalon10.54 ± 0.35
Myelencephalon10.55 ± 0.32
Occipital Lobe10.1 ± 0.37
Parietal Lobe10.49 ± 0.32
Pontine Tegmentum10.54 ± 0.28
Striatum10.71 ± 0.27
Subthalamus10.74 ± 0.03
Temporal Lobe10.68 ± 0.32
Thalamus10.58 ± 0.2
White Matter10.73 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phpt1CBCerebellum10.19
12.38
Phpt1CTXCerebral cortex12.1
9.03
Phpt1HIPHippocampal region8.25
8.29
Phpt1HPFHippocampal formation7.77
7.22
Phpt1HYHypothalamus1.32
1.18
Phpt1LSXLateral septal complex0.8
0.87
Phpt1MBMidbrain4.09
4.43
Phpt1MYMedulla7.97
9.31
Phpt1OLFOlfactory bulb17.98
13.86
Phpt1PPons6.18
7.8
Phpt1PALPallidum2.5
2.4
Phpt1RHPRetrohippocampal region6.74
5.32
Phpt1sAMYStriatum-like amygdalar nuclei5.79
4.1
Phpt1STRStriatum3.19
2.49
Phpt1STRdStriatum dorsal region2.88
2.42
Phpt1STRvStriatum ventral region3.78
2.48
Phpt1THThalamus3.51
3.28
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00034711 20 89 108 HVYGYSMAYGPAQHAISTEK Peptide Atlas
PHP14_HUMAN_0 0 0 0 IHVYGYSMAYGPAQHAISTEK PRIDE
PHP14_HUMAN_110 15 110 124 AKYPDYEVTWANDGY PRIDE
PHP14_HUMAN_2 25 2 26 AVADLALIPDVDIDSDGVFKYVLIR PRIDE
PHP14_HUMAN_33 13 33 45 SGAPAAESKEIVR PRIDE
PHP14_HUMAN_48 18 48 65 WAEYHADIYDKVSGDMQK PRIDE
PHP14_HUMAN_87 21 87 107 IHVYGYSMAYGPAQHAISTEK 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