Property Summary

NCBI Gene PubMed Count 23
PubMed Score 9.16
PubTator Score 8.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
ependymoma 1.200 2.5e-02
oligodendroglioma 1.300 1.7e-03
permanent atrial fibrillation -1.100 1.1e-05
psoriasis -1.700 2.8e-04
astrocytoma 2.000 2.1e-02
atypical teratoid/rhabdoid tumor -1.900 6.7e-05
primitive neuroectodermal tumor -1.300 1.8e-02
lung cancer 2.300 6.2e-05
Multiple Sclerosis -1.400 2.0e-03
interstitial cystitis -1.100 6.3e-03
group 4 medulloblastoma 2.100 1.9e-06
non primary Sjogren syndrome sicca -1.500 2.1e-02
lung carcinoma 1.600 3.7e-13
pituitary cancer 3.200 3.1e-07

Pathway (1)

Protein-protein Interaction (1)

Gene RIF (12)

PMID Text
26694817 The expression of coding and non-coding genes with SAFB1 cross-link sites was altered by SAFB1 knockdown. The isoform-specific expression of neural cell adhesion molecule (NCAM1) and ASTN2 was influenced by SAFB1.
25939412 rs4836732 may contribute to hip OA susceptibility by altering proximal femur shape.
25410587 Study found a significant association of ASTN2 genetic variants with age at onset in Alzheimer's disease in two independent samples together with in silico analysis that demonstrated potential role of ASTN2 in the pathogenesis of the disease
24381304 3' terminal ASTN2 deletions are significantly enriched in males with neurodevelopmental disorders, but not in females.
22504421 Single nucleotide polymorphism in ASTN2 gene is associated with cognition disorders.
20889312 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20195266 Clinical trial and genome-wide association study of gene-disease association. (HuGE Navigator)
19910543 Observational study of gene-disease association. (HuGE Navigator)
19086053 Observational study of gene-disease association. (HuGE Navigator)
18940311 Observational study of gene-disease association. (HuGE Navigator)
18839057 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTV      1 - 70
STLPALRESDIGWSGARAGAGAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNT     71 - 140
ELPFFTLEMSGTAADISLVHWRQQWLENGTLYFHVSMSSSGQLAQATAPTLQEPSEIVEEQMHILHISVM    141 - 210
GGLIALLLLLLVFTVALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRSSRLQTHNSVI    211 - 280
GVPIRETPILDDYDCEEDEEPPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKAAAEATQETVES    281 - 350
LMQKFKESFRANTPIEIGQLQPPLRSTSAGKRKRRSKSRGGISFGRAKGTSGSEADDETQLTFYTEQYRS    351 - 420
RRRSKGLLKSPVNKTALTLIAVSSCILAMVCGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISD    421 - 490
WLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGP    491 - 560
WPYTTLERGYDLVTGEQAPEKILRSTFSLGQGLWLPVSKSFVVPPVELSINPLASCKTDVLVTEDPADVR    561 - 630
EEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVDSSGCVCPEELKPMKDGSGCYDHSKG    631 - 700
IDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSCLMLSDVCEGPKCLKPDSKFN    701 - 770
DTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQCRGVLSEPLPDLQLLT    771 - 840
GDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHYGSHYIAEALY    841 - 910
GSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEK    911 - 980
GRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCD    981 - 1050
LSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGE   1051 - 1120
FLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTAC   1121 - 1190
PLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGP   1191 - 1260
RKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMAR   1261 - 1330
NTYGESKGR                                                                1331 - 1339
//

Text Mined References (27)

PMID Year Title
26694817 2015 iCLIP identifies novel roles for SAFB1 in regulating RNA processing and neuronal function.
25939412 2015 Investigation of association between hip osteoarthritis susceptibility loci and radiographic proximal femur shape.
25410587 2015 Polymorphisms within ASTN2 gene are associated with age at onset of Alzheimer's disease.
24381304 2014 Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.
23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22683712 2012 Genome-wide association analysis identifies susceptibility loci for migraine without aura.
22658931 2012 A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed.
22566634 2012 The genetic architecture of economic and political preferences.
22504421 2012 Common variants at 12q14 and 12q24 are associated with hippocampal volume.
21685187 2011 Genome-wide association study of smoking behaviours in patients with COPD.
21248752 2011 Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20195266 2011 Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
19910543 2010 Confirmation of genomewide association signals in Chinese Han population reveals risk loci for ischemic stroke.
19086053 2009 Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
18940311 2008 Recurrent CNVs disrupt three candidate genes in schizophrenia patients.
18839057 2008 Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9734811 1998 Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.