AutismKB 2.0

Annotation Detail for NUFIP2


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Basic Information Top
Gene Symbol:NUFIP2 ( 182-FIP,82-FIP,FIP-82,FLJ10976,KIAA1321,MGC117262 )
Gene Full Name: nuclear fragile X mental retardation protein interacting protein 2
Band: 17q11.1
Quick LinksEntrez ID:57532; OMIM: 609356; Uniprot ID:NUFP2_HUMAN; ENSEMBL ID: ENSG00000108256; HGNC ID: 17634
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 body4 / 7076156
blastocyst4 / 6231964
fetus74 / 564012131
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult169 / 193912187
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma8 / 17475457
breast (mammary gland) tumor8 / 9417884
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor9 / 11424678
esophageal tumor2 / 17290115
gastrointestinal tumor5 / 11936941
germ cell tumor16 / 26384560
glioma1 / 1068839
head and neck tumor11 / 13630280
kidney tumor4 / 6895958
leukemia7 / 9584273
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia10 / 97250102
normal295 / 336030787
ovarian tumor6 / 7668278
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer6 / 10268058
retinoblastoma3 / 4635664
skin tumor6 / 12494948
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder7 / 29757235
blood1 / 1234788
bone2 / 7165527
bone marrow4 / 4880181
brain47 / 110098942
cervix0 / 481710 
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue20 / 21572292
esophagus2 / 2020998
eye19 / 21105490
heart2 / 8962622
intestine17 / 23447272
kidney15 / 21177770
larynx0 / 241450 
liver14 / 20774367
lung21 / 33697462
lymph0 / 442700 
lymph node23 / 91610251
mammary gland19 / 153271123
mouth9 / 67052134
muscle13 / 107715120
nerve4 / 15768253
ovary7 / 10205168
pancreas11 / 21481251
parathyroid5 / 20539243
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta39 / 280825138
prostate13 / 18934568
salivary gland2 / 2015599
skin15 / 21057471
spleen0 / 539520 
stomach5 / 9661951
testis17 / 33044251
thymus10 / 81131123
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus18 / 23287877
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P921144
  • 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
Amygdala8.7 ± 0.23
Basal Forebrain8.73 ± 0.16
Basal Part of Pons8.76 ± 0.3
Cerebellar Cortex9.08 ± 0.16
Cerebellar Nuclei8.88 ± 0.17
Claustrum8.98 ± 0.52
Epithalamus8.99 ± 0.33
Frontal Lobe8.81 ± 0.25
Globus Pallidus8.63 ± 0.19
Hypothalamus8.9 ± 0.16
Insula8.87 ± 0.18
Limbic Lobe8.82 ± 0.3
Mesencephalon8.92 ± 0.23
Myelencephalon8.8 ± 0.25
Occipital Lobe9.07 ± 0.2
Parietal Lobe8.9 ± 0.24
Pontine Tegmentum8.84 ± 0.23
Striatum8.68 ± 0.25
Subthalamus8.8 ± 0.5
Temporal Lobe8.78 ± 0.21
Thalamus8.88 ± 0.2
White Matter9.14 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nufip2CBCerebellum4.44
4.12
Nufip2CTXCerebral cortex1.18
1.17
Nufip2HIPHippocampal region2.38
2.4
Nufip2HPFHippocampal formation1.69
1.57
Nufip2HYHypothalamus0.45
0.56
Nufip2LSXLateral septal complex0.06
0.03
Nufip2MBMidbrain0.42
0.54
Nufip2MYMedulla1.82
2.06
Nufip2OLFOlfactory bulb2.88
2.09
Nufip2PPons0.9
1.16
Nufip2PALPallidum0.39
0.44
Nufip2RHPRetrohippocampal region0.59
0.48
Nufip2sAMYStriatum-like amygdalar nuclei0.02
0
Nufip2STRStriatum0.47
0.45
Nufip2STRdStriatum dorsal region0.4
0.38
Nufip2STRvStriatum ventral region1.12
1.09
Nufip2THThalamus0.26
0.3
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002694 11 233 243 GCENLNIVQDK 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