AutismKB 2.0

Annotation Detail for PHF12


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Basic Information Top
Gene Symbol:PHF12 ( FLJ34122,KIAA1523,MGC131914,PF1 )
Gene Full Name: PHD finger protein 12
Band: 17q11.2
Quick LinksEntrez ID:57649; OMIM: NA; Uniprot ID:PHF12_HUMAN; ENSEMBL ID: ENSG00000109118; HGNC ID: 20816
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 body6 / 7076184
blastocyst1 / 6231916
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult72 / 193912137
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) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor8 / 13630258
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor1 / 9635910
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal75 / 336030722
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer13 / 102680126
retinoblastoma3 / 4635664
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
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 
bladder2 / 2975767
blood4 / 12347832
bone0 / 716550 
bone marrow1 / 4880120
brain37 / 110098933
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine9 / 23447238
kidney4 / 21177718
larynx2 / 2414582
liver1 / 2077434
lung9 / 33697426
lymph0 / 442700 
lymph node7 / 9161076
mammary gland4 / 15327126
mouth4 / 6705259
muscle6 / 10771555
nerve1 / 1576863
ovary2 / 10205119
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate16 / 18934584
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach4 / 9661941
testis10 / 33044230
thymus2 / 8113124
thyroid3 / 4747363
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus8 / 23287834
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_23_P305761
  • 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
Amygdala1.95 ± 1
Basal Forebrain1.48 ± 0.18
Basal Part of Pons1.22 ± 0.4
Cerebellar Cortex1.48 ± 0.75
Cerebellar Nuclei1.76 ± 0.71
Claustrum2.36 ± 0.84
Epithalamus1.24 ± 0.71
Frontal Lobe1.36 ± 0.61
Globus Pallidus1.98 ± 0.31
Hypothalamus1.62 ± 0.7
Insula1.46 ± 0.58
Limbic Lobe1.49 ± 0.59
Mesencephalon1.65 ± 0.68
Myelencephalon1.51 ± 0.64
Occipital Lobe1.55 ± 0.56
Parietal Lobe1.47 ± 0.61
Pontine Tegmentum1.57 ± 0.63
Striatum1.63 ± 0.48
Subthalamus1.62 ± 0.6
Temporal Lobe1.39 ± 0.62
Thalamus1.47 ± 0.55
White Matter2.03 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phf12CBCerebellum36.31
45.32
Phf12CTXCerebral cortex100
81.87
Phf12HIPHippocampal region54.51
74.08
Phf12HPFHippocampal formation61.92
66.91
Phf12HYHypothalamus74.95
63.23
Phf12LSXLateral septal complex64.93
44.92
Phf12MBMidbrain64.95
58.36
Phf12MYMedulla63.18
64.8
Phf12OLFOlfactory bulb88.5
84.37
Phf12PPons66.84
70.93
Phf12PALPallidum76.89
70.37
Phf12RHPRetrohippocampal region76.35
58.42
Phf12sAMYStriatum-like amygdalar nuclei91.47
70.89
Phf12STRStriatum91.71
69.58
Phf12STRdStriatum dorsal region91.81
69.8
Phf12STRvStriatum ventral region100
77.17
Phf12THThalamus80.31
68.86
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00028693 15 313 327 WMCPNHIEHVVLNQK Peptide Atlas
PHF12_HUMAN_129 13 129 141 TTSPSSDTDLLDR PRIDE
PHF12_HUMAN_900 21 900 920 QDEEPSEEAAMMSSQAQGPQR 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