AutismKB 2.0

Annotation Detail for PHF5A


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Basic Information Top
Gene Symbol:PHF5A ( INI,MGC1346,Rds3,SAP14b,SF3b14b,bK223H9.2 )
Gene Full Name: PHD finger protein 5A
Band: 22q13.2
Quick LinksEntrez ID:84844; OMIM: NA; Uniprot ID:PHF5A_HUMAN; ENSEMBL ID: ENSG00000100410; HGNC ID: 18000
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 body5 / 7076170
blastocyst5 / 6231980
fetus17 / 56401230
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult42 / 193912121
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 tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma7 / 10688365
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma8 / 71755111
non-neoplasia2 / 9725020
normal83 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor16 / 124949128
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone5 / 7165569
bone marrow0 / 488010 
brain15 / 110098913
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine9 / 23447238
kidney2 / 2117779
larynx0 / 241450 
liver1 / 2077434
lung14 / 33697441
lymph7 / 44270158
lymph node3 / 9161032
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate9 / 18934547
salivary gland1 / 2015549
skin24 / 210574113
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10031_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
Amygdala5.72 ± 0.34
Basal Forebrain5.64 ± 0.36
Basal Part of Pons5.65 ± 0.44
Cerebellar Cortex6.1 ± 0.21
Cerebellar Nuclei5.59 ± 0.44
Claustrum5.59 ± 0.63
Epithalamus6.77 ± 0.53
Frontal Lobe5.7 ± 0.41
Globus Pallidus6.05 ± 0.46
Hypothalamus5.59 ± 0.33
Insula5.69 ± 0.24
Limbic Lobe5.82 ± 0.41
Mesencephalon5.85 ± 0.46
Myelencephalon5.77 ± 0.44
Occipital Lobe6 ± 0.36
Parietal Lobe5.8 ± 0.4
Pontine Tegmentum5.77 ± 0.37
Striatum5.76 ± 0.38
Subthalamus5.38 ± 0.34
Temporal Lobe5.79 ± 0.36
Thalamus5.74 ± 0.32
White Matter7.09 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Phf5aCBCerebellum65.77
96.42
Phf5aCTXCerebral cortex77.7
66.17
Phf5aHIPHippocampal region44.44
78.95
Phf5aHPFHippocampal formation46.28
61.96
Phf5aHYHypothalamus32.14
28.67
Phf5aLSXLateral septal complex80.24
69.5
Phf5aMBMidbrain22.9
24.15
Phf5aMYMedulla30.71
36.56
Phf5aOLFOlfactory bulb55.88
52.63
Phf5aPPons25.35
29.99
Phf5aPALPallidum32.48
33.01
Phf5aRHPRetrohippocampal region49.11
43.37
Phf5asAMYStriatum-like amygdalar nuclei10.99
9.03
Phf5aSTRStriatum26.5
22.98
Phf5aSTRdStriatum dorsal region19.01
16.96
Phf5aSTRvStriatum ventral region39.96
32.32
Phf5aTHThalamus42.3
44.59
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001452 16 58 73 CVICGGPGVSDAYYCK Peptide Atlas
PHF5A_HUMAN_2 11 2 12 AKHHPDLIFCR PRIDE
PHF5A_HUMAN_96 7 96 102 TDLFYER 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