AutismKB 2.0

Annotation Detail for PRRT2


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Basic Information Top
Gene Symbol:PRRT2 ( DKFZp547J199,FLJ25513,IFITMD1 )
Gene Full Name: proline-rich transmembrane protein 2
Band: 16p11.2
Quick LinksEntrez ID:112476; OMIM: NA; Uniprot ID:PRRT2_HUMAN; ENSEMBL ID: ENSG00000167371; HGNC ID: 30500
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 body1 / 7076114
blastocyst4 / 6231964
fetus87 / 564012154
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult59 / 193912130
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 tumor3 / 11936925
germ cell tumor20 / 26384575
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal300 / 336030789
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
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 gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain271 / 1100989246
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye6 / 21105428
heart1 / 8962611
intestine4 / 23447217
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta3 / 28082510
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis7 / 33044221
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus4 / 23287817
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_P66017
  • 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
Amygdala12.36 ± 0.48
Basal Forebrain11.57 ± 0.32
Basal Part of Pons12.26 ± 0.32
Cerebellar Cortex12.12 ± 0.3
Cerebellar Nuclei10.15 ± 0.56
Claustrum12.23 ± 0.35
Epithalamus11.68 ± 0.66
Frontal Lobe11.46 ± 0.46
Globus Pallidus9.38 ± 0.8
Hypothalamus11.4 ± 0.49
Insula11.69 ± 0.29
Limbic Lobe11.93 ± 0.58
Mesencephalon11.3 ± 0.65
Myelencephalon11.63 ± 0.68
Occipital Lobe12.14 ± 0.61
Parietal Lobe11.58 ± 0.49
Pontine Tegmentum11.3 ± 0.57
Striatum11.74 ± 0.6
Subthalamus10.72 ± 0.43
Temporal Lobe11.8 ± 0.48
Thalamus10.94 ± 0.55
White Matter9.31 ± 0.46
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00063793 20 97 116 ANCSPEDPCQETVSKPEVSK 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