AutismKB 2.0

Annotation Detail for PHF23


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Basic Information Top
Gene Symbol:PHF23 ( FLJ16355,FLJ22884,MGC2941,hJUNE-1b )
Gene Full Name: PHD finger protein 23
Band: 17p13.1
Quick LinksEntrez ID:79142; OMIM: 612910; Uniprot ID:PHF23_HUMAN; ENSEMBL ID: ENSG00000040633; HGNC ID: 28428
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 body8 / 70761113
blastocyst8 / 62319128
fetus22 / 56401239
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult101 / 193912152
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) tumor3 / 9417831
cervical tumor5 / 34366145
chondrosarcoma6 / 8282372
colorectal tumor10 / 11424687
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor14 / 26384553
glioma10 / 10688393
head and neck tumor7 / 13630251
kidney tumor7 / 68959101
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal148 / 336030744
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor9 / 12494972
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone9 / 71655125
bone marrow0 / 488010 
brain34 / 110098930
cervix5 / 48171103
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus1 / 2020949
eye11 / 21105452
heart4 / 8962644
intestine17 / 23447272
kidney11 / 21177751
larynx2 / 2414582
liver2 / 2077439
lung22 / 33697465
lymph0 / 442700 
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary6 / 10205158
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta13 / 28082546
prostate8 / 18934542
salivary gland2 / 2015599
skin26 / 210574123
spleen0 / 539520 
stomach6 / 9661962
testis13 / 33044239
thymus2 / 8113124
thyroid5 / 47473105
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P5550
  • 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
Amygdala4.61 ± 0.64
Basal Forebrain4.55 ± 0.44
Basal Part of Pons4.62 ± 0.37
Cerebellar Cortex4.85 ± 0.45
Cerebellar Nuclei4.65 ± 0.53
Claustrum4.36 ± 0.77
Epithalamus4.96 ± 0.5
Frontal Lobe4.77 ± 0.44
Globus Pallidus4.81 ± 0.35
Hypothalamus4.36 ± 0.44
Insula4.69 ± 0.35
Limbic Lobe4.77 ± 0.44
Mesencephalon4.71 ± 0.45
Myelencephalon4.69 ± 0.52
Occipital Lobe4.6 ± 0.55
Parietal Lobe4.87 ± 0.43
Pontine Tegmentum4.74 ± 0.48
Striatum4.81 ± 0.55
Subthalamus4.56 ± 0.34
Temporal Lobe4.77 ± 0.4
Thalamus4.74 ± 0.53
White Matter3.65 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phf23CBCerebellum6.42
7.69
Phf23CTXCerebral cortex15.37
11.53
Phf23HIPHippocampal region23.79
24.28
Phf23HPFHippocampal formation23.86
22.44
Phf23HYHypothalamus13.46
12.1
Phf23LSXLateral septal complex10.87
8.26
Phf23MBMidbrain6.07
7.33
Phf23MYMedulla5.63
9.07
Phf23OLFOlfactory bulb20.27
16.98
Phf23PPons13.02
18.64
Phf23PALPallidum11.89
10.86
Phf23RHPRetrohippocampal region23.39
19.47
Phf23sAMYStriatum-like amygdalar nuclei22.1
17.19
Phf23STRStriatum10.03
8.02
Phf23STRdStriatum dorsal region6.87
5.91
Phf23STRvStriatum ventral region14.94
10.71
Phf23THThalamus14.47
11.32
Peptide Top

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