AutismKB 2.0

Annotation Detail for PRAMEF12


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Basic Information Top
Gene Symbol:PRAMEF12 ( - )
Gene Full Name: PRAME family member 12
Band: 1p36.21
Quick LinksEntrez ID:390999; OMIM: NA; Uniprot ID:PRA12_HUMAN; ENSEMBL ID: ENSG00000116726; HGNC ID: 22125
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 body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult0 / 19391210 
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal0 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216001_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.5
Adipocyte9.6
AdrenalCortex10.1
Adrenalgland9.75
Amygdala10.35
Appendix11.9
AtrioventricularNode7.5
BDCA4+_DentriticCells8.15
Bonemarrow13.4
BronchialEpithelialCells9.65
CD105+_Endothelial9.45
CD14+_Monocytes8.4
CD19+_BCells(neg._sel.)8.55
CD33+_Myeloid10.85
CD34+10.35
CD4+_Tcells10.15
CD56+_NKCells9.95
CD71+_EarlyErythroid9.05
CD8+_Tcells9
CardiacMyocytes13.15
Caudatenucleus8.7
Cerebellum8.2
CerebellumPeduncles11.1
CiliaryGanglion6.7
CingulateCortex9.65
Colorectaladenocarcinoma10.55
DorsalRootGanglion7.35
FetalThyroid9.45
Fetalbrain9.75
Fetalliver8.15
Fetallung8.45
GlobusPallidus7
Heart14.5
Hypothalamus10.4
Kidney8.35
Leukemia_chronicMyelogenousK-5628.1
Leukemia_promyelocytic-HL-608.45
Leukemialymphoblastic(MOLT-4)7.7
Liver13.25
Lung11.25
Lymphnode8.4
Lymphoma_burkitts(Daudi)12.35
Lymphoma_burkitts(Raji)14.25
MedullaOblongata8.85
OccipitalLobe8.7
OlfactoryBulb7.7
Ovary7.85
Pancreas8.7
PancreaticIslet10.9
ParietalLobe12.55
Pituitary12.75
Placenta9.75
Pons10.4
PrefrontalCortex12.1
Prostate11.6
Salivarygland7.7
SkeletalMuscle15.2
Skin8.4
SmoothMuscle11.15
Spinalcord10.7
SubthalamicNucleus8.75
SuperiorCervicalGanglion15.45
TemporalLobe9
Testis8.35
TestisGermCell8
TestisIntersitial8.55
TestisLeydigCell9.5
TestisSeminiferousTubule8.35
Thalamus9.65
Thymus7.7
Thyroid12.9
Tongue9.45
Tonsil9.45
Trachea8.1
TrigeminalGanglion10.15
Uterus10.25
UterusCorpus9.15
WholeBlood10.65
Wholebrain9.65
colon9.8
pineal_day11.54
pineal_night11.5
retina12.3
small_intestine9.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_524_PI416573500
  • 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
Amygdala2.29 ± 0.94
Basal Forebrain1.9 ± 0.27
Basal Part of Pons1.84 ± 0.9
Cerebellar Cortex1.81 ± 0.67
Cerebellar Nuclei2.34 ± 0.8
Claustrum2.86 ± 0.93
Epithalamus1.51 ± 0.77
Frontal Lobe1.85 ± 0.7
Globus Pallidus2.4 ± 0.4
Hypothalamus2.16 ± 0.85
Insula1.84 ± 0.63
Limbic Lobe2 ± 0.77
Mesencephalon2.26 ± 0.75
Myelencephalon2 ± 0.67
Occipital Lobe2.17 ± 0.85
Parietal Lobe1.92 ± 0.65
Pontine Tegmentum1.95 ± 0.73
Striatum2.27 ± 0.75
Subthalamus2.03 ± 0.63
Temporal Lobe1.86 ± 0.7
Thalamus1.97 ± 0.63
White Matter2.29 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pramef12CBCerebellum0.11
0.1
Pramef12CTXCerebral cortex0.13
0.19
Pramef12HIPHippocampal region0.05
0.09
Pramef12HPFHippocampal formation0.05
0.06
Pramef12HYHypothalamus0.11
0.25
Pramef12LSXLateral septal complex0
0
Pramef12MBMidbrain0.23
0.3
Pramef12MYMedulla0.17
0.21
Pramef12OLFOlfactory bulb0.25
1.49
Pramef12PPons0.06
0.04
Pramef12PALPallidum0.04
0
Pramef12RHPRetrohippocampal region0.02
0
Pramef12sAMYStriatum-like amygdalar nuclei0.09
0.12
Pramef12STRStriatum0.16
0.18
Pramef12STRdStriatum dorsal region0.21
0.24
Pramef12STRvStriatum ventral region0.04
0.06
Pramef12THThalamus0.05
0.05
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