AutismKB 2.0

Annotation Detail for PHRF1


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Basic Information Top
Gene Symbol:PHRF1 ( KIAA1542,RNF221 )
Gene Full Name: PHD and ring finger domains 1
Band: 11p15.5
Quick LinksEntrez ID:57661; OMIM: 611780; Uniprot ID:PHRF1_HUMAN; ENSEMBL ID: ENSG00000070047; HGNC ID: 24351
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 body10 / 70761141
blastocyst5 / 6231980
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult44 / 193912122
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor9 / 26384534
glioma3 / 10688328
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor16 / 103127155
lymphoma21 / 71755292
non-neoplasia2 / 9725020
normal83 / 336030724
ovarian tumor2 / 7668226
pancreatic tumor21 / 104616200
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer4 / 10268038
retinoblastoma2 / 4635643
skin tumor9 / 12494972
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood6 / 12347848
bone1 / 7165513
bone marrow0 / 488010 
brain15 / 110098913
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus0 / 202090 
eye10 / 21105447
heart0 / 896260 
intestine5 / 23447221
kidney4 / 21177718
larynx1 / 2414541
liver2 / 2077439
lung18 / 33697453
lymph20 / 44270451
lymph node5 / 9161054
mammary gland0 / 1532710 
mouth0 / 670520 
muscle4 / 10771537
nerve1 / 1576863
ovary5 / 10205148
pancreas25 / 214812116
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta10 / 28082535
prostate4 / 18934521
salivary gland3 / 20155148
skin11 / 21057452
spleen4 / 5395274
stomach1 / 9661910
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
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_23_P75391
  • 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
Amygdala5.16 ± 0.51
Basal Forebrain5.19 ± 0.32
Basal Part of Pons5.47 ± 0.33
Cerebellar Cortex5.72 ± 0.36
Cerebellar Nuclei5.03 ± 0.41
Claustrum4.97 ± 0.81
Epithalamus5.06 ± 0.69
Frontal Lobe5.31 ± 0.46
Globus Pallidus4.96 ± 0.22
Hypothalamus4.91 ± 0.38
Insula5.37 ± 0.57
Limbic Lobe5.36 ± 0.48
Mesencephalon5.15 ± 0.48
Myelencephalon5.31 ± 0.45
Occipital Lobe5.38 ± 0.43
Parietal Lobe5.26 ± 0.38
Pontine Tegmentum5.26 ± 0.47
Striatum5.03 ± 0.33
Subthalamus5.23 ± 0.62
Temporal Lobe5.47 ± 0.38
Thalamus5.39 ± 0.31
White Matter5.56 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AA673488CBCerebellum21.16
23.33
AA673488CTXCerebral cortex38.65
28.11
AA673488HIPHippocampal region29.94
34.83
AA673488HPFHippocampal formation30.98
30.73
AA673488HYHypothalamus10.87
8.09
AA673488LSXLateral septal complex12.36
9.01
AA673488MBMidbrain11.24
9.2
AA673488MYMedulla22.31
20.93
AA673488OLFOlfactory bulb39.83
32.73
AA673488PPons11.99
11
AA673488PALPallidum12.7
10.55
AA673488RHPRetrohippocampal region34.26
25.31
AA673488sAMYStriatum-like amygdalar nuclei23.65
16.95
AA673488STRStriatum16.07
11.41
AA673488STRdStriatum dorsal region15.73
11.39
AA673488STRvStriatum ventral region15.44
10.11
AA673488THThalamus19.68
15.57
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00080815 18 1377 1394 VQEAARPEEVVSQTPLLR 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