AutismKB 2.0

Annotation Detail for PITPNM3


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Basic Information Top
Gene Symbol:PITPNM3 ( CORD5,MGC157740,MGC157741,NIR1,RDGBA3 )
Gene Full Name: PITPNM family member 3
Band: 17p13.2-p13.1
Quick LinksEntrez ID:83394; OMIM: 608921; Uniprot ID:PITM3_HUMAN; ENSEMBL ID: ENSG00000091622; HGNC ID: 21043
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 
fetus12 / 56401221
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult17 / 19391218
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 tumor4 / 34366116
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal44 / 336030713
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain22 / 110098919
cervix5 / 48171103
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine5 / 23447221
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph1 / 4427022
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221254_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.65
Adipocyte3.8
AdrenalCortex4.05
Adrenalgland3.25
Amygdala4
Appendix3.9
AtrioventricularNode2.95
BDCA4+_DentriticCells4.25
Bonemarrow3.85
BronchialEpithelialCells3.8
CD105+_Endothelial3.9
CD14+_Monocytes4.1
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid4.95
CD34+4.9
CD4+_Tcells4.2
CD56+_NKCells4.6
CD71+_EarlyErythroid3.6
CD8+_Tcells3.65
CardiacMyocytes5.1
Caudatenucleus3.45
Cerebellum3.1
CerebellumPeduncles4.45
CiliaryGanglion2.7
CingulateCortex3.95
Colorectaladenocarcinoma3.85
DorsalRootGanglion3
FetalThyroid3.8
Fetalbrain3.85
Fetalliver3.3
Fetallung3.2
GlobusPallidus2.9
Heart4.85
Hypothalamus4.15
Kidney3.1
Leukemia_chronicMyelogenousK-5623.45
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.1
Liver5.45
Lung4.2
Lymphnode3.3
Lymphoma_burkitts(Daudi)4.9
Lymphoma_burkitts(Raji)5.4
MedullaOblongata4.55
OccipitalLobe3.45
OlfactoryBulb3
Ovary2.6
Pancreas3.1
PancreaticIslet4.15
ParietalLobe4.1
Pituitary4.5
Placenta3.95
Pons3.8
PrefrontalCortex4.75
Prostate4.5
Salivarygland3.15
SkeletalMuscle4.8
Skin2.95
SmoothMuscle4.35
Spinalcord4.1
SubthalamicNucleus3.55
SuperiorCervicalGanglion4.35
TemporalLobe3.5
Testis3.3
TestisGermCell3.2
TestisIntersitial3.25
TestisLeydigCell3.8
TestisSeminiferousTubule3.3
Thalamus3.9
Thymus3
Thyroid4.8
Tongue3.8
Tonsil3.75
Trachea3.2
TrigeminalGanglion3.8
Uterus3.15
UterusCorpus3.5
WholeBlood4.25
Wholebrain3.25
colon3.85
pineal_day4.76
pineal_night4.72
retina4.625
small_intestine3.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P66753
  • 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
Amygdala4.01 ± 0.86
Basal Forebrain3.28 ± 0.57
Basal Part of Pons3.02 ± 0.4
Cerebellar Cortex3.49 ± 0.49
Cerebellar Nuclei3.55 ± 1.05
Claustrum3.84 ± 0.86
Epithalamus2.77 ± 0.72
Frontal Lobe3.34 ± 0.65
Globus Pallidus1.97 ± 0.7
Hypothalamus3.23 ± 0.59
Insula3.79 ± 0.65
Limbic Lobe3.39 ± 0.71
Mesencephalon3.46 ± 0.7
Myelencephalon3.36 ± 0.7
Occipital Lobe3.12 ± 0.6
Parietal Lobe3.46 ± 0.65
Pontine Tegmentum3.43 ± 0.71
Striatum3.01 ± 0.88
Subthalamus3.47 ± 0.32
Temporal Lobe3.57 ± 0.62
Thalamus3.15 ± 0.56
White Matter1.67 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
A330068P14RikCBCerebellum25.05
31.27
A330068P14RikCTXCerebral cortex20.84
13.74
A330068P14RikHIPHippocampal region5.49
5.19
A330068P14RikHPFHippocampal formation8.83
7.49
A330068P14RikHYHypothalamus4.14
2.83
A330068P14RikLSXLateral septal complex19.38
13.72
A330068P14RikMBMidbrain5.1
4.49
A330068P14RikMYMedulla12.88
11.31
A330068P14RikOLFOlfactory bulb37.95
31.23
A330068P14RikPPons9.29
7.77
A330068P14RikPALPallidum7.85
5.7
A330068P14RikRHPRetrohippocampal region14.89
10.99
A330068P14RiksAMYStriatum-like amygdalar nuclei14.63
10.51
A330068P14RikSTRStriatum9.07
6.18
A330068P14RikSTRdStriatum dorsal region7.1
4.84
A330068P14RikSTRvStriatum ventral region8.14
5.15
A330068P14RikTHThalamus6.73
4.87
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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