AutismKB 2.0

Annotation Detail for PITPNM1


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Basic Information Top
Gene Symbol:PITPNM1 ( DRES9,FLJ44997,NIR2,PITPNM,RDGB,RDGB1,RDGBA,RDGBA1,Rd9 )
Gene Full Name: phosphatidylinositol transfer protein, membrane-associated 1
Band: 11q13.2
Quick LinksEntrez ID:9600; OMIM: 608794; Uniprot ID:PITM1_HUMAN; ENSEMBL ID: ENSG00000110697; HGNC ID: 9003
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 body2 / 7076128
blastocyst3 / 6231948
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult74 / 193912138
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 tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor20 / 26384575
glioma9 / 10688384
head and neck tumor20 / 136302146
kidney tumor4 / 6895958
leukemia8 / 9584283
liver tumor2 / 9635920
lung tumor5 / 10312748
lymphoma6 / 7175583
non-neoplasia5 / 9725051
normal127 / 336030737
ovarian tumor3 / 7668239
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma9 / 46356194
skin tumor6 / 12494948
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood7 / 12347856
bone1 / 7165513
bone marrow0 / 488010 
brain72 / 110098965
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye23 / 211054108
heart0 / 896260 
intestine11 / 23447246
kidney4 / 21177718
larynx4 / 24145165
liver2 / 2077439
lung12 / 33697435
lymph3 / 4427067
lymph node11 / 91610120
mammary gland2 / 15327113
mouth5 / 6705274
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta5 / 28082517
prostate3 / 18934515
salivary gland8 / 20155396
skin6 / 21057428
spleen1 / 5395218
stomach0 / 966190 
testis12 / 33044236
thymus9 / 81131110
thyroid3 / 4747363
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203826_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts42.35
Adipocyte33.4
AdrenalCortex45.15
Adrenalgland29.05
Amygdala36.5
Appendix34.2
AtrioventricularNode26.3
BDCA4+_DentriticCells37.75
Bonemarrow33.25
BronchialEpithelialCells33.6
CD105+_Endothelial31.7
CD14+_Monocytes42.4
CD19+_BCells(neg._sel.)40.85
CD33+_Myeloid52.4
CD34+43.3
CD4+_Tcells41
CD56+_NKCells43.95
CD71+_EarlyErythroid32.15
CD8+_Tcells34.8
CardiacMyocytes41.7
Caudatenucleus56.35
Cerebellum39.85
CerebellumPeduncles77.6
CiliaryGanglion24.35
CingulateCortex61.65
Colorectaladenocarcinoma33.95
DorsalRootGanglion26.4
FetalThyroid32.65
Fetalbrain50.35
Fetalliver29.15
Fetallung28.7
GlobusPallidus25.4
Heart43.9
Hypothalamus40.15
Kidney27.95
Leukemia_chronicMyelogenousK-56231.15
Leukemia_promyelocytic-HL-6030.5
Leukemialymphoblastic(MOLT-4)30.65
Liver43.55
Lung38.05
Lymphnode29.85
Lymphoma_burkitts(Daudi)43.9
Lymphoma_burkitts(Raji)52.8
MedullaOblongata46.5
OccipitalLobe31.1
OlfactoryBulb27.05
Ovary22.75
Pancreas27.7
PancreaticIslet36.25
ParietalLobe36.45
Pituitary40.25
Placenta33.75
Pons39.25
PrefrontalCortex43.15
Prostate40.4
Salivarygland26.95
SkeletalMuscle49.4
Skin26
SmoothMuscle38.6
Spinalcord36.7
SubthalamicNucleus47.6
SuperiorCervicalGanglion36.85
TemporalLobe54.2
Testis28.85
TestisGermCell28.5
TestisIntersitial28.3
TestisLeydigCell34.05
TestisSeminiferousTubule29.6
Thalamus103.05
Thymus27.35
Thyroid43.6
Tongue33.4
Tonsil33.55
Trachea28.7
TrigeminalGanglion33.7
Uterus26.75
UterusCorpus30.3
WholeBlood37.95
Wholebrain29.45
colon33.7
pineal_day44.78
pineal_night42.08
retina41.675
small_intestine16.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P1519
  • 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
Amygdala4.47 ± 0.78
Basal Forebrain4.2 ± 0.47
Basal Part of Pons5.12 ± 0.63
Cerebellar Cortex4.98 ± 0.67
Cerebellar Nuclei3.84 ± 0.55
Claustrum3.8 ± 0.94
Epithalamus4.78 ± 0.95
Frontal Lobe4.74 ± 0.75
Globus Pallidus3.18 ± 0.74
Hypothalamus4.59 ± 0.79
Insula4.77 ± 0.45
Limbic Lobe4.29 ± 0.76
Mesencephalon4.33 ± 0.7
Myelencephalon4.49 ± 0.82
Occipital Lobe4.08 ± 0.77
Parietal Lobe4.51 ± 0.76
Pontine Tegmentum4.28 ± 0.66
Striatum3.73 ± 0.71
Subthalamus3.85 ± 1.08
Temporal Lobe4.78 ± 0.62
Thalamus5.12 ± 0.61
White Matter1.65 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pitpnm1CBCerebellum100
100
Pitpnm1CTXCerebral cortex100
100
Pitpnm1HIPHippocampal region68.39
93.64
Pitpnm1HPFHippocampal formation87.63
99.61
Pitpnm1HYHypothalamus100
100
Pitpnm1LSXLateral septal complex100
100
Pitpnm1MBMidbrain100
100
Pitpnm1MYMedulla84.3
96.07
Pitpnm1OLFOlfactory bulb100
100
Pitpnm1PPons87.65
87.95
Pitpnm1PALPallidum93.1
87.02
Pitpnm1RHPRetrohippocampal region100
100
Pitpnm1sAMYStriatum-like amygdalar nuclei100
100
Pitpnm1STRStriatum71.34
51.8
Pitpnm1STRdStriatum dorsal region51.87
36.68
Pitpnm1STRvStriatum ventral region82.99
55.88
Pitpnm1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00039728 21 259 279 CNTGSEGSEAQPPGKPSTEAR Peptide Atlas
PITM1_HUMAN_1219 12 1219 1230 EGPGTPPTTLAR PRIDE
PITM1_HUMAN_137 9 137 145 ILDTIDIVR PRIDE
PITM1_HUMAN_146 9 146 154 DAVAPGEYK PRIDE
PITM1_HUMAN_170 9 170 178 GPLSDDWAR PRIDE
PITM1_HUMAN_195 4 195 198 VEFR PRIDE
PITM1_HUMAN_206 11 206 216 IEQFIHDVGLR PRIDE
PITM1_HUMAN_399 10 399 408 GIEDGAQAPR PRIDE
PITM1_HUMAN_80 17 80 96 AALQVEEESWNAYPYTR PRIDE
PITM1_HUMAN_915 7 915 921 NVTSNHR PRIDE
PITM1_HUMAN_954 13 954 966 VDVYIMTQPLSGK PRIDE
PITM1_HUMAN_981 9 981 989 LTFPVPPER 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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