AutismKB 2.0

Annotation Detail for PERP


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Basic Information Top
Gene Symbol:PERP ( KCP1,KRTCAP1,PIGPC1,RP3-496H19.1,THW,dJ496H19.1 )
Gene Full Name: PERP, TP53 apoptosis effector
Band: 6q23.3
Quick LinksEntrez ID:64065; OMIM: 609301; Uniprot ID:PERP_HUMAN; ENSEMBL ID: ENSG00000112378; HGNC ID: 17637
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 body15 / 70761211
blastocyst3 / 6231948
fetus43 / 56401276
neonate1 / 3109732
infant0 / 236200 
juvenile4 / 5555671
adult400 / 1939121206
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma17 / 17475972
breast (mammary gland) tumor23 / 94178244
cervical tumor11 / 34366320
chondrosarcoma8 / 8282396
colorectal tumor16 / 114246140
esophageal tumor99 / 172905725
gastrointestinal tumor39 / 119369326
germ cell tumor24 / 26384590
glioma12 / 106883112
head and neck tumor35 / 136302256
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor34 / 96359352
lung tumor13 / 103127126
lymphoma0 / 717550 
non-neoplasia40 / 97250411
normal459 / 3360307136
ovarian tumor11 / 76682143
pancreatic tumor24 / 104616229
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer11 / 102680107
retinoblastoma0 / 463560 
skin tumor14 / 124949112
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor30 / 90257332
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites9 / 40015224
bladder19 / 29757638
blood2 / 12347816
bone6 / 7165583
bone marrow5 / 48801102
brain61 / 110098955
cervix15 / 48171311
connective tissue16 / 149255107
ear0 / 162120 
embryonic tissue35 / 215722162
esophagus107 / 202095294
eye42 / 211054199
heart22 / 89626245
intestine52 / 234472221
kidney19 / 21177789
larynx5 / 24145207
liver51 / 207743245
lung54 / 336974160
lymph0 / 442700 
lymph node2 / 9161021
mammary gland52 / 153271339
mouth23 / 67052343
muscle2 / 10771518
nerve0 / 157680 
ovary12 / 102051117
pancreas46 / 214812214
parathyroid7 / 20539340
pharynx10 / 41328241
pituitary gland0 / 165850 
placenta119 / 280825423
prostate47 / 189345248
salivary gland4 / 20155198
skin41 / 210574194
spleen0 / 539520 
stomach39 / 96619403
testis8 / 33044224
thymus14 / 81131172
thyroid9 / 47473189
tonsil0 / 169990 
trachea37 / 52413705
umbilical cord0 / 136800 
uterus46 / 232878197
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217744_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.75
Adipocyte23.2
AdrenalCortex6.6
Adrenalgland5.15
Amygdala7
Appendix6.4
AtrioventricularNode6.25
BDCA4+_DentriticCells6.15
Bonemarrow6
BronchialEpithelialCells1641.8
CD105+_Endothelial5.9
CD14+_Monocytes6.25
CD19+_BCells(neg._sel.)6.15
CD33+_Myeloid7.3
CD34+7.2
CD4+_Tcells6.1
CD56+_NKCells6.65
CD71+_EarlyErythroid5.6
CD8+_Tcells5.4
CardiacMyocytes10.1
Caudatenucleus5.3
Cerebellum4.85
CerebellumPeduncles7.1
CiliaryGanglion4.45
CingulateCortex6.15
Colorectaladenocarcinoma350.25
DorsalRootGanglion4.9
FetalThyroid6.65
Fetalbrain5.7
Fetalliver60.85
Fetallung11.25
GlobusPallidus4.5
Heart26.55
Hypothalamus6.55
Kidney5.65
Leukemia_chronicMyelogenousK-5627.35
Leukemia_promyelocytic-HL-605.25
Leukemialymphoblastic(MOLT-4)4.6
Liver46.1
Lung49.1
Lymphnode4.9
Lymphoma_burkitts(Daudi)7.65
Lymphoma_burkitts(Raji)8.6
MedullaOblongata5.35
OccipitalLobe5.3
OlfactoryBulb4.65
Ovary4
Pancreas155.4
PancreaticIslet177.5
ParietalLobe6.35
Pituitary7.25
Placenta477.85
Pons6.15
PrefrontalCortex8.2
Prostate500.25
Salivarygland309.15
SkeletalMuscle7.2
Skin658.15
SmoothMuscle54.25
Spinalcord6.3
SubthalamicNucleus5.55
SuperiorCervicalGanglion7.2
TemporalLobe5.55
Testis5
TestisGermCell4.9
TestisIntersitial4.9
TestisLeydigCell8.25
TestisSeminiferousTubule5.1
Thalamus6.05
Thymus15.85
Thyroid121.85
Tongue667.1
Tonsil302.2
Trachea288.6
TrigeminalGanglion6.05
Uterus32.2
UterusCorpus5.85
WholeBlood6.4
Wholebrain4.8
colon106.2
pineal_day12.72
pineal_night15.22
retina12.125
small_intestine105.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P131608
  • 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
Amygdala2.82 ± 1.07
Basal Forebrain2.5 ± 0.4
Basal Part of Pons2.35 ± 0.99
Cerebellar Cortex2.46 ± 0.97
Cerebellar Nuclei2.5 ± 0.72
Claustrum3.25 ± 1.06
Epithalamus1.97 ± 1.04
Frontal Lobe2.18 ± 0.88
Globus Pallidus2.88 ± 0.6
Hypothalamus2.33 ± 1
Insula2.14 ± 0.61
Limbic Lobe2.47 ± 0.94
Mesencephalon2.4 ± 0.8
Myelencephalon2.38 ± 0.82
Occipital Lobe2.46 ± 1
Parietal Lobe2.44 ± 0.95
Pontine Tegmentum2.61 ± 0.98
Striatum2.45 ± 0.95
Subthalamus2.05 ± 0.41
Temporal Lobe2.29 ± 0.89
Thalamus2.21 ± 0.8
White Matter2.54 ± 1.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PerpCBCerebellum12.81
16.33
PerpCTXCerebral cortex1.89
2.02
PerpHIPHippocampal region1.54
2.3
PerpHPFHippocampal formation1.82
1.96
PerpHYHypothalamus2.9
2.11
PerpLSXLateral septal complex1.23
0.98
PerpMBMidbrain3.96
5.16
PerpMYMedulla5.21
8.33
PerpOLFOlfactory bulb6.62
5.4
PerpPPons5
5.64
PerpPALPallidum3.6
3.11
PerpRHPRetrohippocampal region2.18
1.52
PerpsAMYStriatum-like amygdalar nuclei2.6
4.68
PerpSTRStriatum4.23
4.56
PerpSTRdStriatum dorsal region2.23
3.18
PerpSTRvStriatum ventral region11.56
7.67
PerpTHThalamus2.89
3.37
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


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