AutismKB 2.0

Annotation Detail for PMPCA


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Basic Information Top
Gene Symbol:PMPCA ( Alpha-MPP,FLJ26258,INPP5E,KIAA0123,MGC104197 )
Gene Full Name: peptidase (mitochondrial processing) alpha
Band: 9q34.3
Quick LinksEntrez ID:23203; OMIM: 613036; Uniprot ID:MPPA_HUMAN; ENSEMBL ID: ENSG00000165688; HGNC ID: 18667
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 body4 / 7076156
blastocyst10 / 62319160
fetus57 / 564012101
neonate10 / 31097321
infant4 / 23620169
juvenile27 / 55556485
adult218 / 1939121112
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor19 / 94178201
cervical tumor2 / 3436658
chondrosarcoma9 / 82823108
colorectal tumor13 / 114246113
esophageal tumor3 / 17290173
gastrointestinal tumor21 / 119369175
germ cell tumor48 / 263845181
glioma23 / 106883215
head and neck tumor10 / 13630273
kidney tumor24 / 68959348
leukemia17 / 95842177
liver tumor21 / 96359217
lung tumor7 / 10312767
lymphoma29 / 71755404
non-neoplasia13 / 97250133
normal488 / 3360307145
ovarian tumor10 / 76682130
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS53 / 125680421
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor24 / 124949192
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland13 / 33197391
ascites9 / 40015224
bladder3 / 29757100
blood27 / 123478218
bone7 / 7165597
bone marrow11 / 48801225
brain216 / 1100989196
cervix4 / 4817183
connective tissue19 / 149255127
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus3 / 20209148
eye13 / 21105461
heart10 / 89626111
intestine47 / 234472200
kidney51 / 211777240
larynx0 / 241450 
liver29 / 207743139
lung23 / 33697468
lymph19 / 44270429
lymph node2 / 9161021
mammary gland24 / 153271156
mouth12 / 67052178
muscle11 / 107715102
nerve3 / 15768190
ovary12 / 102051117
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta28 / 28082599
prostate15 / 18934579
salivary gland1 / 2015549
skin37 / 210574175
spleen18 / 53952333
stomach10 / 96619103
testis63 / 330442190
thymus19 / 81131234
thyroid3 / 4747363
tonsil5 / 16999294
trachea6 / 52413114
umbilical cord3 / 13680219
uterus40 / 232878171
vascular12 / 51780231
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212088_at
Cell line Expression level Expression bar
721_B_lymphoblasts85.45
Adipocyte22.5
AdrenalCortex24.75
Adrenalgland20.55
Amygdala17.3
Appendix8.9
AtrioventricularNode6.9
BDCA4+_DentriticCells47.3
Bonemarrow17.4
BronchialEpithelialCells67.5
CD105+_Endothelial40.7
CD14+_Monocytes24.6
CD19+_BCells(neg._sel.)32.3
CD33+_Myeloid35.85
CD34+69.1
CD4+_Tcells58.75
CD56+_NKCells35.55
CD71+_EarlyErythroid11.3
CD8+_Tcells65.5
CardiacMyocytes22.4
Caudatenucleus8.15
Cerebellum17.6
CerebellumPeduncles20.25
CiliaryGanglion6.85
CingulateCortex25
Colorectaladenocarcinoma71
DorsalRootGanglion6.9
FetalThyroid26.85
Fetalbrain18
Fetalliver14.85
Fetallung22.55
GlobusPallidus7.55
Heart68.75
Hypothalamus28.8
Kidney22.3
Leukemia_chronicMyelogenousK-56250.9
Leukemia_promyelocytic-HL-6066.1
Leukemialymphoblastic(MOLT-4)32.6
Liver91.2
Lung53.05
Lymphnode18.55
Lymphoma_burkitts(Daudi)61.05
Lymphoma_burkitts(Raji)109.65
MedullaOblongata11.7
OccipitalLobe10.3
OlfactoryBulb14.4
Ovary6.05
Pancreas19.5
PancreaticIslet19.7
ParietalLobe19.75
Pituitary35.15
Placenta28.15
Pons9.5
PrefrontalCortex28.95
Prostate63.3
Salivarygland15.65
SkeletalMuscle24.9
Skin5.95
SmoothMuscle57.85
Spinalcord12.35
SubthalamicNucleus16.15
SuperiorCervicalGanglion7.1
TemporalLobe8.95
Testis55.2
TestisGermCell31.3
TestisIntersitial14.95
TestisLeydigCell20.3
TestisSeminiferousTubule23.85
Thalamus13.65
Thymus40.95
Thyroid31.7
Tongue11.7
Tonsil22.35
Trachea12.9
TrigeminalGanglion8
Uterus33.45
UterusCorpus13.35
WholeBlood25.15
Wholebrain42.35
colon27.4
pineal_day26.76
pineal_night23.44
retina18.675
small_intestine26.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8417_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
Amygdala4.13 ± 0.64
Basal Forebrain3.84 ± 0.59
Basal Part of Pons4.68 ± 0.51
Cerebellar Cortex4.29 ± 0.64
Cerebellar Nuclei4.09 ± 0.75
Claustrum3.85 ± 0.98
Epithalamus3.75 ± 0.59
Frontal Lobe4.45 ± 0.51
Globus Pallidus3.8 ± 0.59
Hypothalamus3.98 ± 0.55
Insula4.37 ± 0.46
Limbic Lobe4.08 ± 0.66
Mesencephalon4.08 ± 0.59
Myelencephalon4.13 ± 0.64
Occipital Lobe3.9 ± 0.54
Parietal Lobe4.22 ± 0.65
Pontine Tegmentum4.18 ± 0.54
Striatum3.76 ± 0.61
Subthalamus4.08 ± 0.12
Temporal Lobe4.31 ± 0.6
Thalamus4.12 ± 0.55
White Matter3.56 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PmpcaCBCerebellum27.46
30.85
PmpcaCTXCerebral cortex67.66
53.7
PmpcaHIPHippocampal region42.06
65.76
PmpcaHPFHippocampal formation44.77
55.07
PmpcaHYHypothalamus24.57
18.84
PmpcaLSXLateral septal complex23.88
18.87
PmpcaMBMidbrain24.24
22.79
PmpcaMYMedulla32.63
36.75
PmpcaOLFOlfactory bulb58.21
50.02
PmpcaPPons25.81
28.19
PmpcaPALPallidum22.82
20.46
PmpcaRHPRetrohippocampal region48.86
42.57
PmpcasAMYStriatum-like amygdalar nuclei27.63
20.97
PmpcaSTRStriatum26.18
20.34
PmpcaSTRdStriatum dorsal region22.32
17.72
PmpcaSTRvStriatum ventral region38.35
27.55
PmpcaTHThalamus31.04
29.63
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MPPA_HUMAN_146 12 146 157 DTTMYAVSADSK PRIDE
MPPA_HUMAN_158 17 158 174 GLDTVVALLADVVLQPR PRIDE
MPPA_HUMAN_176 10 176 185 LTDEEVEMTR PRIDE
MPPA_HUMAN_185 30 185 214 MAVQFELEDLNLRPDPEPLLTEMIHEAAYR PRIDE
PAp00002420 16 84 99 FGQFCTVGILINSGSR 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


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