AutismKB 2.0

Annotation Detail for NIPSNAP1


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Basic Information Top
Gene Symbol:NIPSNAP1 ( - )
Gene Full Name: nipsnap homolog 1 (C. elegans)
Band: 22q12.2
Quick LinksEntrez ID:8508; OMIM: 603249; Uniprot ID:NIPS1_HUMAN; ENSEMBL ID: ENSG00000184117; HGNC ID: 7827
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 body7 / 7076198
blastocyst12 / 62319192
fetus84 / 564012148
neonate5 / 31097160
infant3 / 23620127
juvenile28 / 55556503
adult176 / 193912190
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma1 / 1747557
breast (mammary gland) tumor12 / 94178127
cervical tumor4 / 34366116
chondrosarcoma12 / 82823144
colorectal tumor16 / 114246140
esophageal tumor0 / 172900 
gastrointestinal tumor27 / 119369226
germ cell tumor28 / 263845106
glioma17 / 106883159
head and neck tumor1 / 1363027
kidney tumor5 / 6895972
leukemia19 / 95842198
liver tumor16 / 96359166
lung tumor22 / 103127213
lymphoma29 / 71755404
non-neoplasia5 / 9725051
normal309 / 336030791
ovarian tumor15 / 76682195
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS57 / 125680453
prostate cancer18 / 102680175
retinoblastoma19 / 46356409
skin tumor9 / 12494972
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites12 / 40015299
bladder2 / 2975767
blood22 / 123478178
bone10 / 71655139
bone marrow4 / 4880181
brain93 / 110098984
cervix5 / 48171103
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue30 / 215722139
esophagus0 / 202090 
eye46 / 211054217
heart5 / 8962655
intestine24 / 234472102
kidney20 / 21177794
larynx0 / 241450 
liver31 / 207743149
lung39 / 336974115
lymph13 / 44270293
lymph node11 / 91610120
mammary gland18 / 153271117
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary21 / 102051205
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta25 / 28082589
prostate27 / 189345142
salivary gland0 / 201550 
skin17 / 21057480
spleen2 / 5395237
stomach13 / 96619134
testis17 / 33044251
thymus8 / 8113198
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus15 / 23287864
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201708_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts56.85
Adipocyte12.5
AdrenalCortex12.8
Adrenalgland15.3
Amygdala14.2
Appendix14.1
AtrioventricularNode9.2
BDCA4+_DentriticCells9.05
Bonemarrow12.4
BronchialEpithelialCells11.85
CD105+_Endothelial11.95
CD14+_Monocytes5.2
CD19+_BCells(neg._sel.)9.9
CD33+_Myeloid8.1
CD34+15.15
CD4+_Tcells10.65
CD56+_NKCells15.05
CD71+_EarlyErythroid10.9
CD8+_Tcells11.15
CardiacMyocytes19.05
Caudatenucleus15.25
Cerebellum27.7
CerebellumPeduncles16.05
CiliaryGanglion8.65
CingulateCortex17.9
Colorectaladenocarcinoma12.4
DorsalRootGanglion9.45
FetalThyroid12.6
Fetalbrain17.5
Fetalliver39.55
Fetallung10.35
GlobusPallidus8.9
Heart15.05
Hypothalamus16.25
Kidney31.95
Leukemia_chronicMyelogenousK-56214.3
Leukemia_promyelocytic-HL-6031.35
Leukemialymphoblastic(MOLT-4)29.4
Liver42.35
Lung12.9
Lymphnode11.05
Lymphoma_burkitts(Daudi)15.8
Lymphoma_burkitts(Raji)46.15
MedullaOblongata16.95
OccipitalLobe17.55
OlfactoryBulb9.4
Ovary9.35
Pancreas9.75
PancreaticIslet13.5
ParietalLobe15.7
Pituitary29.15
Placenta12.25
Pons13.95
PrefrontalCortex17.3
Prostate13.75
Salivarygland9.2
SkeletalMuscle17.25
Skin9.3
SmoothMuscle16.6
Spinalcord13.25
SubthalamicNucleus11.05
SuperiorCervicalGanglion13.65
TemporalLobe20.4
Testis12.95
TestisGermCell10.65
TestisIntersitial9.9
TestisLeydigCell11.65
TestisSeminiferousTubule10.4
Thalamus12.6
Thymus10.15
Thyroid14.95
Tongue11.9
Tonsil11.7
Trachea10.75
TrigeminalGanglion12.55
Uterus9.35
UterusCorpus10.65
WholeBlood12.05
Wholebrain27.6
colon11.85
pineal_day16.74
pineal_night14.44
retina14.9
small_intestine11.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P237278
  • 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
Amygdala5.94 ± 0.45
Basal Forebrain6 ± 0.42
Basal Part of Pons6.2 ± 0.21
Cerebellar Cortex6.15 ± 0.29
Cerebellar Nuclei5.58 ± 0.46
Claustrum5.96 ± 0.41
Epithalamus5.3 ± 0.7
Frontal Lobe6.15 ± 0.39
Globus Pallidus5.29 ± 0.48
Hypothalamus5.96 ± 0.41
Insula6.1 ± 0.3
Limbic Lobe6.18 ± 0.41
Mesencephalon5.99 ± 0.54
Myelencephalon5.96 ± 0.49
Occipital Lobe5.6 ± 0.39
Parietal Lobe5.97 ± 0.43
Pontine Tegmentum5.89 ± 0.43
Striatum5.64 ± 0.37
Subthalamus5.41 ± 0.31
Temporal Lobe6.17 ± 0.37
Thalamus5.91 ± 0.3
White Matter4.77 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nipsnap1CBCerebellum79.21
100
Nipsnap1CTXCerebral cortex100
100
Nipsnap1HIPHippocampal region100
100
Nipsnap1HPFHippocampal formation100
100
Nipsnap1HYHypothalamus100
100
Nipsnap1LSXLateral septal complex100
100
Nipsnap1MBMidbrain100
100
Nipsnap1MYMedulla100
100
Nipsnap1OLFOlfactory bulb100
100
Nipsnap1PPons97.86
100
Nipsnap1PALPallidum100
100
Nipsnap1RHPRetrohippocampal region100
100
Nipsnap1sAMYStriatum-like amygdalar nuclei100
100
Nipsnap1STRStriatum100
100
Nipsnap1STRdStriatum dorsal region100
100
Nipsnap1STRvStriatum ventral region100
100
Nipsnap1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NIPS1_HUMAN_179 9 179 187 MGPNIYELR PRIDE
NIPS1_HUMAN_191 15 191 205 LKPGTMIEWGNNWAR PRIDE
NIPS1_HUMAN_211 27 211 237 QENQEAVGGFFSQIGELYVVHHLWAYK PRIDE
NIPS1_HUMAN_254 14 254 267 GWDENVYYTVPLVR PRIDE
NIPS1_HUMAN_273 11 273 283 IMIPLKISPLQ PRIDE
NIPS1_HUMAN_46 10 46 55 SLFVHKVDPR PRIDE
NIPS1_HUMAN_73 24 73 96 IQFHNVKPEYLDAYNSLTEAVLPK PRIDE
PAp00002573 14 128 141 FSGGYPALMDCMNK 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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