AutismKB 2.0

Annotation Detail for PITRM1


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Basic Information Top
Gene Symbol:PITRM1 ( KIAA1104,MGC138192,MGC141929,MP1,PreP,hMP1 )
Gene Full Name: pitrilysin metallopeptidase 1
Band: 10p15.2
Quick LinksEntrez ID:10531; OMIM: NA; Uniprot ID:PREP_HUMAN; ENSEMBL ID: ENSG00000107959; HGNC ID: 17663
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 body10 / 70761141
blastocyst5 / 6231980
fetus92 / 564012163
neonate6 / 31097192
infant1 / 2362042
juvenile2 / 5555635
adult198 / 1939121102
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor11 / 94178116
cervical tumor1 / 3436629
chondrosarcoma15 / 82823181
colorectal tumor12 / 114246105
esophageal tumor2 / 17290115
gastrointestinal tumor22 / 119369184
germ cell tumor50 / 263845189
glioma7 / 10688365
head and neck tumor38 / 136302278
kidney tumor10 / 68959145
leukemia9 / 9584293
liver tumor10 / 96359103
lung tumor14 / 103127135
lymphoma11 / 71755153
non-neoplasia10 / 97250102
normal582 / 3360307173
ovarian tumor4 / 7668252
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer3 / 10268029
retinoblastoma13 / 46356280
skin tumor11 / 12494988
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland5 / 33197150
ascites14 / 40015349
bladder1 / 2975733
blood5 / 12347840
bone8 / 71655111
bone marrow9 / 48801184
brain329 / 1100989298
cervix1 / 4817120
connective tissue23 / 149255154
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus3 / 20209148
eye29 / 211054137
heart10 / 89626111
intestine18 / 23447276
kidney38 / 211777179
larynx5 / 24145207
liver13 / 20774362
lung78 / 336974231
lymph7 / 44270158
lymph node7 / 9161076
mammary gland16 / 153271104
mouth32 / 67052477
muscle1 / 1077159
nerve1 / 1576863
ovary6 / 10205158
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta17 / 28082560
prostate8 / 18934542
salivary gland3 / 20155148
skin16 / 21057475
spleen6 / 53952111
stomach8 / 9661982
testis110 / 330442332
thymus28 / 81131345
thyroid2 / 4747342
tonsil1 / 1699958
trachea32 / 52413610
umbilical cord8 / 13680584
uterus34 / 232878145
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205273_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts55.45
Adipocyte16.2
AdrenalCortex18.25
Adrenalgland28.1
Amygdala25.7
Appendix7.6
AtrioventricularNode5.95
BDCA4+_DentriticCells71.15
Bonemarrow11.3
BronchialEpithelialCells30.5
CD105+_Endothelial39.65
CD14+_Monocytes28.2
CD19+_BCells(neg._sel.)16.4
CD33+_Myeloid36.55
CD34+50.65
CD4+_Tcells48.7
CD56+_NKCells46.2
CD71+_EarlyErythroid14
CD8+_Tcells69.5
CardiacMyocytes26.55
Caudatenucleus13.15
Cerebellum12
CerebellumPeduncles12.75
CiliaryGanglion5.35
CingulateCortex15.4
Colorectaladenocarcinoma11.8
DorsalRootGanglion5.85
FetalThyroid22.1
Fetalbrain15.3
Fetalliver5.4
Fetallung12.6
GlobusPallidus8.9
Heart26.7
Hypothalamus21.9
Kidney8.55
Leukemia_chronicMyelogenousK-56214.2
Leukemia_promyelocytic-HL-6013.45
Leukemialymphoblastic(MOLT-4)12.45
Liver19.9
Lung37.75
Lymphnode11.95
Lymphoma_burkitts(Daudi)16.65
Lymphoma_burkitts(Raji)15.85
MedullaOblongata14.1
OccipitalLobe16.15
OlfactoryBulb11.9
Ovary5.95
Pancreas8.3
PancreaticIslet17.95
ParietalLobe15.65
Pituitary16.55
Placenta10.35
Pons15.5
PrefrontalCortex33
Prostate31.4
Salivarygland8.75
SkeletalMuscle17.25
Skin5.7
SmoothMuscle49.2
Spinalcord16
SubthalamicNucleus13.4
SuperiorCervicalGanglion14.55
TemporalLobe13.65
Testis37.2
TestisGermCell42.85
TestisIntersitial42.15
TestisLeydigCell20.6
TestisSeminiferousTubule20
Thalamus23.15
Thymus43
Thyroid14.35
Tongue11.4
Tonsil11.2
Trachea12.35
TrigeminalGanglion11.6
Uterus20.85
UterusCorpus10.05
WholeBlood14.35
Wholebrain46.6
colon11.05
pineal_day45.22
pineal_night26.22
retina56.7
small_intestine10.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P52402
  • 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
Amygdala8.11 ± 0.25
Basal Forebrain7.79 ± 0.2
Basal Part of Pons8.19 ± 0.14
Cerebellar Cortex7.77 ± 0.19
Cerebellar Nuclei8.22 ± 0.2
Claustrum8.28 ± 0.39
Epithalamus7.52 ± 0.21
Frontal Lobe7.98 ± 0.29
Globus Pallidus7.86 ± 0.22
Hypothalamus7.6 ± 0.18
Insula7.84 ± 0.18
Limbic Lobe8.11 ± 0.27
Mesencephalon8.01 ± 0.34
Myelencephalon7.93 ± 0.3
Occipital Lobe8.1 ± 0.26
Parietal Lobe8.05 ± 0.27
Pontine Tegmentum7.98 ± 0.23
Striatum7.89 ± 0.36
Subthalamus8.08 ± 0.09
Temporal Lobe8.02 ± 0.22
Thalamus7.99 ± 0.23
White Matter7.98 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pitrm1CBCerebellum24.99
32.59
Pitrm1CTXCerebral cortex19.9
14.8
Pitrm1HIPHippocampal region19.89
21.32
Pitrm1HPFHippocampal formation22.66
21.6
Pitrm1HYHypothalamus3.78
3.06
Pitrm1LSXLateral septal complex3.53
2.94
Pitrm1MBMidbrain10.73
10.87
Pitrm1MYMedulla21.04
26
Pitrm1OLFOlfactory bulb17.04
12.72
Pitrm1PPons14.37
16.17
Pitrm1PALPallidum7.36
6.55
Pitrm1RHPRetrohippocampal region30.43
24.87
Pitrm1sAMYStriatum-like amygdalar nuclei5.22
3.94
Pitrm1STRStriatum5.42
4.27
Pitrm1STRdStriatum dorsal region5.47
4.5
Pitrm1STRvStriatum ventral region6.41
4.34
Pitrm1THThalamus17.38
14
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004888 18 625 642 LGCGLLDYREQAQQIELK Peptide Atlas
PREP_HUMAN_1001 7 1001 1007 LLAVSDR PRIDE
PREP_HUMAN_174 10 174 183 ELDFWQEGWR PRIDE
PREP_HUMAN_184 16 184 199 LEHENPSDPQTPLVFK PRIDE
PREP_HUMAN_406 13 406 418 SLIDRTIDEVVEK PRIDE
PREP_HUMAN_46 21 46 66 IHGFTVNQVTSVPELFLTAVK PRIDE
PREP_HUMAN_467 7 467 473 LGNQLAK PRIDE
PREP_HUMAN_476 8 476 483 QCLQENPK PRIDE
PREP_HUMAN_500 10 500 509 LTLSMRPDDK PRIDE
PREP_HUMAN_500 14 500 513 LTLSMRPDDKYHEK PRIDE
PREP_HUMAN_526 15 526 540 VEALSPGDRQQIYEK PRIDE
PREP_HUMAN_526 9 526 534 VEALSPGDR PRIDE
PREP_HUMAN_8 7 8 14 QGLCVLR PRIDE
PREP_HUMAN_810 30 810 839 RPVRPHTVEKPVPSSSGGDAHVPHGSQVIR PRIDE
PREP_HUMAN_82 12 82 93 EDTNNLFSVQFR PRIDE
PREP_HUMAN_842 13 842 854 LVMEPTFKPWQMK PRIDE
PREP_HUMAN_855 17 855 871 THFLMPFPVNYVGECIR PRIDE
PREP_HUMAN_912 13 912 924 LSHNGIFTLYSYR PRIDE
PREP_HUMAN_957 16 957 972 LSVFSTVDAPVAPSDK PRIDE
PREP_HUMAN_991 10 991 1000 EQLFAVSHDK 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


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