AutismKB 2.0

Annotation Detail for PRAF2


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Basic Information Top
Gene Symbol:PRAF2 ( - )
Gene Full Name: PRA1 domain family, member 2
Band: Xp11.23
Quick LinksEntrez ID:11230; OMIM: NA; Uniprot ID:PRAF2_HUMAN; ENSEMBL ID: ENSG00000196998; HGNC ID: 28911
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
blastocyst2 / 6231932
fetus24 / 56401242
neonate2 / 3109764
infant1 / 2362042
juvenile2 / 5555635
adult91 / 193912146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma13 / 82823156
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor11 / 26384541
glioma16 / 106883149
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor12 / 96359124
lung tumor6 / 10312758
lymphoma7 / 7175597
non-neoplasia3 / 9725030
normal170 / 336030750
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor8 / 12494964
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone10 / 71655139
bone marrow0 / 488010 
brain105 / 110098995
cervix6 / 48171124
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye20 / 21105494
heart2 / 8962622
intestine11 / 23447246
kidney6 / 21177728
larynx0 / 241450 
liver13 / 20774362
lung18 / 33697453
lymph7 / 44270158
lymph node3 / 9161032
mammary gland2 / 15327113
mouth2 / 6705229
muscle6 / 10771555
nerve1 / 1576863
ovary2 / 10205119
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate11 / 18934558
salivary gland4 / 20155198
skin10 / 21057447
spleen4 / 5395274
stomach2 / 9661920
testis13 / 33044239
thymus5 / 8113161
thyroid1 / 4747321
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord2 / 13680146
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203456_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.55
Adipocyte93.15
AdrenalCortex69.5
Adrenalgland89.2
Amygdala214.95
Appendix78
AtrioventricularNode19.95
BDCA4+_DentriticCells34.15
Bonemarrow83.15
BronchialEpithelialCells85.95
CD105+_Endothelial56.35
CD14+_Monocytes28
CD19+_BCells(neg._sel.)67.1
CD33+_Myeloid26.75
CD34+43.35
CD4+_Tcells72.35
CD56+_NKCells78.9
CD71+_EarlyErythroid49.85
CD8+_Tcells73.75
CardiacMyocytes158.1
Caudatenucleus128.5
Cerebellum151.95
CerebellumPeduncles129.55
CiliaryGanglion41.75
CingulateCortex142.05
Colorectaladenocarcinoma78.65
DorsalRootGanglion57.15
FetalThyroid113.25
Fetalbrain104.4
Fetalliver66.65
Fetallung65.9
GlobusPallidus100.15
Heart110.75
Hypothalamus189.9
Kidney67.85
Leukemia_chronicMyelogenousK-56230
Leukemia_promyelocytic-HL-6045.4
Leukemialymphoblastic(MOLT-4)94.8
Liver110.5
Lung97.65
Lymphnode69.4
Lymphoma_burkitts(Daudi)92.45
Lymphoma_burkitts(Raji)97.75
MedullaOblongata86.9
OccipitalLobe137.95
OlfactoryBulb74.75
Ovary51.6
Pancreas64.55
PancreaticIslet95.3
ParietalLobe162.25
Pituitary227.35
Placenta81.85
Pons81.65
PrefrontalCortex116.15
Prostate99.85
Salivarygland39.75
SkeletalMuscle93.5
Skin52
SmoothMuscle211.6
Spinalcord170.4
SubthalamicNucleus109.95
SuperiorCervicalGanglion89.7
TemporalLobe84.25
Testis128.9
TestisGermCell89.65
TestisIntersitial63.15
TestisLeydigCell93.2
TestisSeminiferousTubule73.3
Thalamus189.45
Thymus106.9
Thyroid126.6
Tongue77.15
Tonsil77.4
Trachea72.1
TrigeminalGanglion51.7
Uterus83
UterusCorpus76.05
WholeBlood94.75
Wholebrain137.1
colon38.05
pineal_day165.18
pineal_night161.18
retina135.45
small_intestine30.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6476_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
Amygdala6.06 ± 0.63
Basal Forebrain5.96 ± 0.31
Basal Part of Pons6.16 ± 0.4
Cerebellar Cortex5.81 ± 0.44
Cerebellar Nuclei6.23 ± 0.38
Claustrum6.33 ± 0.87
Epithalamus5.48 ± 0.5
Frontal Lobe6.02 ± 0.48
Globus Pallidus5.94 ± 0.37
Hypothalamus5.9 ± 0.69
Insula5.85 ± 0.54
Limbic Lobe5.89 ± 0.55
Mesencephalon5.94 ± 0.58
Myelencephalon6.01 ± 0.51
Occipital Lobe5.6 ± 0.37
Parietal Lobe5.82 ± 0.42
Pontine Tegmentum5.81 ± 0.47
Striatum5.64 ± 0.54
Subthalamus6.27 ± 0.07
Temporal Lobe6.06 ± 0.45
Thalamus5.98 ± 0.47
White Matter6.13 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Praf2CBCerebellum33.6
68.32
Praf2CTXCerebral cortex96.4
90.43
Praf2HIPHippocampal region59.42
100
Praf2HPFHippocampal formation70.73
97.86
Praf2HYHypothalamus62.76
64.82
Praf2LSXLateral septal complex76.61
77.47
Praf2MBMidbrain70.96
82.66
Praf2MYMedulla70.9
100
Praf2OLFOlfactory bulb76.65
81.05
Praf2PPons68.23
93.96
Praf2PALPallidum73.08
87.19
Praf2RHPRetrohippocampal region87.54
92.55
Praf2sAMYStriatum-like amygdalar nuclei87.12
81.61
Praf2STRStriatum71.97
62.99
Praf2STRdStriatum dorsal region66.2
56.55
Praf2STRvStriatum ventral region82.75
70.43
Praf2THThalamus78.05
85.82
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00037368 19 160 178 RTPMGLLLEALGQEQEAGS 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