AutismKB 2.0

Annotation Detail for NIPA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NIPA1 ( FSP3,MGC102724,MGC35570,SPG6 )
Gene Full Name: non imprinted in Prader-Willi/Angelman syndrome 1
Band: 15q11.2
Quick LinksEntrez ID:123606; OMIM: 608145; Uniprot ID:NIPA1_HUMAN; ENSEMBL ID: ENSG00000170113; HGNC ID: 17043
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
blastocyst5 / 6231980
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult53 / 193912127
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 tumor5 / 34366145
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor7 / 26384526
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia0 / 972500 
normal114 / 336030733
ovarian tumor0 / 766820 
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone3 / 7165541
bone marrow0 / 488010 
brain71 / 110098964
cervix5 / 48171103
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye7 / 21105433
heart2 / 8962622
intestine4 / 23447217
kidney3 / 21177714
larynx0 / 241450 
liver6 / 20774328
lung3 / 3369748
lymph0 / 442700 
lymph node2 / 9161021
mammary gland6 / 15327139
mouth2 / 6705229
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate4 / 18934521
salivary gland0 / 201550 
skin4 / 21057418
spleen4 / 5395274
stomach2 / 9661920
testis8 / 33044224
thymus5 / 8113161
thyroid3 / 4747363
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus2 / 2328788
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P359131
  • 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
Amygdala6.81 ± 0.5
Basal Forebrain7.47 ± 0.4
Basal Part of Pons7.42 ± 0.42
Cerebellar Cortex6.9 ± 0.32
Cerebellar Nuclei8.34 ± 0.33
Claustrum7.35 ± 0.35
Epithalamus6.69 ± 0.58
Frontal Lobe7.29 ± 0.51
Globus Pallidus8.44 ± 0.32
Hypothalamus7.21 ± 0.55
Insula6.96 ± 0.27
Limbic Lobe7.23 ± 0.54
Mesencephalon7.63 ± 0.5
Myelencephalon7.39 ± 0.51
Occipital Lobe7.78 ± 0.48
Parietal Lobe7.47 ± 0.49
Pontine Tegmentum7.47 ± 0.47
Striatum7.51 ± 0.48
Subthalamus7.9 ± 0.14
Temporal Lobe7.26 ± 0.44
Thalamus7.83 ± 0.41
White Matter8.98 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nipa1CBCerebellum18.48
22.46
Nipa1CTXCerebral cortex65.6
55.26
Nipa1HIPHippocampal region35.95
57.52
Nipa1HPFHippocampal formation42.67
53.53
Nipa1HYHypothalamus17.85
16.15
Nipa1LSXLateral septal complex10.02
9.2
Nipa1MBMidbrain37.54
38.68
Nipa1MYMedulla50.5
64.1
Nipa1OLFOlfactory bulb35.37
31.36
Nipa1PPons39.71
48.55
Nipa1PALPallidum31.44
34.49
Nipa1RHPRetrohippocampal region55.52
50.62
Nipa1sAMYStriatum-like amygdalar nuclei20.04
16.05
Nipa1STRStriatum27.56
22.1
Nipa1STRdStriatum dorsal region32.24
26.08
Nipa1STRvStriatum ventral region26.83
20.23
Nipa1THThalamus41.81
43.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00509090 18 208 225 GIGLAAQDILHNNPSSQR 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