AutismKB 2.0

Annotation Detail for PRF1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PRF1 ( FLH2,HPLH2,MGC65093,P1,PFN1,PFP )
Gene Full Name: perforin 1 (pore forming protein)
Band: 10q22.1
Quick LinksEntrez ID:5551; OMIM: 170280; Uniprot ID:PERF_HUMAN; ENSEMBL ID: ENSG00000180644; HGNC ID: 9360
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 
fetus1 / 5640121
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult18 / 19391219
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal154 / 336030745
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 tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood26 / 123478210
bone0 / 716550 
bone marrow1 / 4880120
brain6 / 11009895
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver5 / 20774324
lung9 / 33697426
lymph0 / 442700 
lymph node2 / 9161021
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen98 / 539521816
stomach0 / 966190 
testis0 / 3304420 
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214617_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.95
Adipocyte9.45
AdrenalCortex12.25
Adrenalgland9.2
Amygdala9.75
Appendix13
AtrioventricularNode11.6
BDCA4+_DentriticCells59.85
Bonemarrow147.85
BronchialEpithelialCells8.85
CD105+_Endothelial9.05
CD14+_Monocytes11.6
CD19+_BCells(neg._sel.)9.3
CD33+_Myeloid10.6
CD34+10.35
CD4+_Tcells952.25
CD56+_NKCells13312.7
CD71+_EarlyErythroid9.15
CD8+_Tcells1774.6
CardiacMyocytes16.35
Caudatenucleus8.8
Cerebellum7.95
CerebellumPeduncles12
CiliaryGanglion8.1
CingulateCortex9.9
Colorectaladenocarcinoma1047.2
DorsalRootGanglion10.2
FetalThyroid9.9
Fetalbrain9.45
Fetalliver8.75
Fetallung8.25
GlobusPallidus7.3
Heart68.45
Hypothalamus10.35
Kidney9.5
Leukemia_chronicMyelogenousK-56210.45
Leukemia_promyelocytic-HL-608.55
Leukemialymphoblastic(MOLT-4)7.1
Liver19.85
Lung297.15
Lymphnode38.45
Lymphoma_burkitts(Daudi)12.3
Lymphoma_burkitts(Raji)15.2
MedullaOblongata8.7
OccipitalLobe8.6
OlfactoryBulb7.55
Ovary7.8
Pancreas19.8
PancreaticIslet10.6
ParietalLobe10.75
Pituitary11.35
Placenta10.2
Pons9.8
PrefrontalCortex11.25
Prostate12.1
Salivarygland8.25
SkeletalMuscle15.35
Skin8.75
SmoothMuscle10.5
Spinalcord10.35
SubthalamicNucleus9.05
SuperiorCervicalGanglion19.4
TemporalLobe9.15
Testis8.35
TestisGermCell7.65
TestisIntersitial8.45
TestisLeydigCell10.35
TestisSeminiferousTubule8.4
Thalamus9.9
Thymus40.95
Thyroid13.4
Tongue12.3
Tonsil9.85
Trachea10.4
TrigeminalGanglion13.7
Uterus8.1
UterusCorpus10.95
WholeBlood1193.65
Wholebrain7.4
colon9.5
pineal_day10.96
pineal_night11
retina15.35
small_intestine9.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16774_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
Amygdala6.36 ± 1.18
Basal Forebrain6.19 ± 0.8
Basal Part of Pons6.38 ± 0.82
Cerebellar Cortex5.55 ± 0.94
Cerebellar Nuclei5.92 ± 0.6
Claustrum6.38 ± 1.29
Epithalamus5.23 ± 0.86
Frontal Lobe5.99 ± 1.02
Globus Pallidus6.69 ± 0.92
Hypothalamus5.65 ± 0.73
Insula5.69 ± 0.91
Limbic Lobe6.24 ± 1.07
Mesencephalon5.96 ± 0.99
Myelencephalon6.02 ± 0.97
Occipital Lobe6.01 ± 1.03
Parietal Lobe5.81 ± 0.88
Pontine Tegmentum5.58 ± 0.69
Striatum5.88 ± 0.97
Subthalamus4.99 ± 1.91
Temporal Lobe5.87 ± 1.07
Thalamus5.95 ± 0.87
White Matter6.14 ± 0.9
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Prf1CBCerebellum1.49
1.66
Prf1CTXCerebral cortex1.28
0.9
Prf1HIPHippocampal region0.55
0.62
Prf1HPFHippocampal formation0.83
1.07
Prf1HYHypothalamus0.45
0.28
Prf1LSXLateral septal complex0.79
0.53
Prf1MBMidbrain0.65
0.89
Prf1MYMedulla2.09
1.64
Prf1OLFOlfactory bulb1.46
1.75
Prf1PPons1.39
2.19
Prf1PALPallidum0.43
0.23
Prf1RHPRetrohippocampal region1.07
1.43
Prf1sAMYStriatum-like amygdalar nuclei0.54
0.53
Prf1STRStriatum0.39
0.39
Prf1STRdStriatum dorsal region0.35
0.43
Prf1STRvStriatum ventral region0.29
0.2
Prf1THThalamus0.46
0.43
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009844 20 391 410 DPCQCVCHGSAVTTQDCCPR Peptide Atlas
PERF_HUMAN_36 18 36 53 FVPGAWLAGEGVDVTSLR PRIDE
PERF_HUMAN_362 9 362 370 ALSQYLTDR PRIDE
PERF_HUMAN_390 20 390 409 DPCQCVCHGSAVTTQDCCPR PRIDE
PERF_HUMAN_440 9 440 448 LFFGGQELR PRIDE
PERF_HUMAN_464 15 464 478 LDFGDVLLATGGPLR PRIDE
PERF_HUMAN_87 9 87 95 LPLALTNWR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved