AutismKB 2.0

Annotation Detail for PITPNM2


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Basic Information Top
Gene Symbol:PITPNM2 ( KIAA1457,NIR3,RDGB2,RDGBA2 )
Gene Full Name: phosphatidylinositol transfer protein, membrane-associated 2
Band: 12q24.31
Quick LinksEntrez ID:57605; OMIM: 608920; Uniprot ID:PITM2_HUMAN; ENSEMBL ID: ENSG00000090975; HGNC ID: 21044
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
blastocyst2 / 6231932
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult42 / 193912121
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor7 / 26384526
glioma3 / 10688328
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal43 / 336030712
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain9 / 11009898
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye10 / 21105447
heart2 / 8962622
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary2 / 10205119
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis7 / 33044221
thymus14 / 81131172
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P401361
  • 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
Amygdala6.18 ± 0.53
Basal Forebrain5.32 ± 0.64
Basal Part of Pons5.33 ± 0.82
Cerebellar Cortex5.24 ± 0.35
Cerebellar Nuclei4.55 ± 0.67
Claustrum6.29 ± 0.54
Epithalamus4.91 ± 0.58
Frontal Lobe5.89 ± 0.65
Globus Pallidus3.91 ± 1.05
Hypothalamus5.38 ± 0.54
Insula6.37 ± 0.42
Limbic Lobe5.95 ± 0.77
Mesencephalon5.51 ± 0.75
Myelencephalon5.5 ± 0.63
Occipital Lobe5.08 ± 0.89
Parietal Lobe5.79 ± 0.53
Pontine Tegmentum5.6 ± 0.71
Striatum5.23 ± 1.23
Subthalamus4.95 ± 0.98
Temporal Lobe6.11 ± 0.44
Thalamus5.34 ± 0.48
White Matter3.36 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pitpnm2CBCerebellum6.55
8.37
Pitpnm2CTXCerebral cortex32.25
27.11
Pitpnm2HIPHippocampal region34.87
50
Pitpnm2HPFHippocampal formation24.6
32.89
Pitpnm2HYHypothalamus0.4
0.35
Pitpnm2LSXLateral septal complex2.87
2.02
Pitpnm2MBMidbrain1.25
1.23
Pitpnm2MYMedulla2.25
2.32
Pitpnm2OLFOlfactory bulb32.34
34.98
Pitpnm2PPons1.11
1.05
Pitpnm2PALPallidum2.81
2.4
Pitpnm2RHPRetrohippocampal region12.96
10.85
Pitpnm2sAMYStriatum-like amygdalar nuclei2.46
1.83
Pitpnm2STRStriatum13.6
10.66
Pitpnm2STRdStriatum dorsal region9.69
7.08
Pitpnm2STRvStriatum ventral region36.57
28.47
Pitpnm2THThalamus5.66
7.29
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