AutismKB 2.0

Annotation Detail for PHF6


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Basic Information Top
Gene Symbol:PHF6 ( BORJ,MGC14797 )
Gene Full Name: PHD finger protein 6
Band: Xq26.2
Quick LinksEntrez ID:84295; OMIM: 300414; Uniprot ID:PHF6_HUMAN; ENSEMBL ID: ENSG00000156531; HGNC ID: 18145
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
blastocyst6 / 6231996
fetus15 / 56401226
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult60 / 193912130
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor27 / 263845102
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia12 / 95842125
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal107 / 336030731
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor5 / 12494940
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 tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder4 / 29757134
blood3 / 12347824
bone4 / 7165555
bone marrow6 / 48801122
brain37 / 110098933
cervix5 / 48171103
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine10 / 23447242
kidney7 / 21177733
larynx0 / 241450 
liver8 / 20774338
lung10 / 33697429
lymph0 / 442700 
lymph node25 / 91610272
mammary gland6 / 15327139
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta5 / 28082517
prostate4 / 18934521
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach2 / 9661920
testis23 / 33044269
thymus9 / 81131110
thyroid2 / 4747342
tonsil1 / 1699958
trachea5 / 5241395
umbilical cord0 / 136800 
uterus21 / 23287890
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10139_PI416261804
  • 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
Amygdala7.13 ± 0.27
Basal Forebrain6.87 ± 0.36
Basal Part of Pons6.95 ± 0.2
Cerebellar Cortex7.17 ± 0.26
Cerebellar Nuclei7.27 ± 0.29
Claustrum6.85 ± 0.49
Epithalamus7.09 ± 0.2
Frontal Lobe7.11 ± 0.32
Globus Pallidus7.27 ± 0.2
Hypothalamus7.33 ± 0.25
Insula7.17 ± 0.33
Limbic Lobe6.89 ± 0.4
Mesencephalon7.11 ± 0.3
Myelencephalon6.95 ± 0.4
Occipital Lobe6.93 ± 0.32
Parietal Lobe7.11 ± 0.31
Pontine Tegmentum7.13 ± 0.38
Striatum6.65 ± 0.39
Subthalamus7.57 ± 0.24
Temporal Lobe7.01 ± 0.28
Thalamus6.96 ± 0.33
White Matter8.24 ± 0.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phf6CBCerebellum4.04
3.53
Phf6CTXCerebral cortex3.13
2.15
Phf6HIPHippocampal region8.3
7.48
Phf6HPFHippocampal formation6.83
5.76
Phf6HYHypothalamus1.1
0.99
Phf6LSXLateral septal complex3.05
2.55
Phf6MBMidbrain1.62
1.5
Phf6MYMedulla3.32
3.95
Phf6OLFOlfactory bulb11.96
9.38
Phf6PPons1.56
1.84
Phf6PALPallidum2.93
2.84
Phf6RHPRetrohippocampal region4.88
3.74
Phf6sAMYStriatum-like amygdalar nuclei1.47
1.38
Phf6STRStriatum1.47
1.34
Phf6STRdStriatum dorsal region0.8
0.87
Phf6STRvStriatum ventral region2.84
1.99
Phf6THThalamus1.46
1.24
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001007 14 212 225 CGFCHVGEEENEAR Peptide Atlas
PHF6_HUMAN_188 9 188 196 DEMESSSYR PRIDE
PHF6_HUMAN_2 12 2 13 SSSVEQKKGPTR 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