Property Summary

NCBI Gene PubMed Count 18
PubMed Score 13.11
PubTator Score 10.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
lung carcinoma 2844 5.12395967699503E-28
osteosarcoma 7933 1.16091486892301E-8
cutaneous lupus erythematosus 1056 5.72719498184687E-4
primary Sjogren syndrome 789 0.00117693766242885
ulcerative colitis 2087 0.00350887451450066
interstitial cystitis 2299 0.00637468892811499
lung cancer 4473 0.016329305332454
nasopharyngeal carcinoma 1056 0.0307781280029225
acute myeloid leukemia 785 0.039854201791746
Disease Target Count Z-score Confidence
Crohn's disease 304 0.0 2.0
Lymphoid leukemia 69 0.0 2.0
Multiple Sclerosis 498 0.0 2.0
Disease Target Count Z-score Confidence
Primary biliary cirrhosis 45 3.732 1.9

Expression

  Differential Expression (9)

Disease log2 FC p
cutaneous lupus erythematosus 2.700 0.001
osteosarcoma -3.581 0.000
lung cancer -1.300 0.016
interstitial cystitis 2.400 0.006
primary Sjogren syndrome 2.100 0.001
nasopharyngeal carcinoma -1.100 0.031
lung carcinoma -2.400 0.000
acute myeloid leukemia 1.100 0.040
ulcerative colitis 1.500 0.004

Synonym

Accession Q13342 E7ESH9 E7EUR5 E9PFJ6 Q0VGE5 Q13341 Q3KR17 Q4ZG66 Q53TG1 Q6NSG4 Q92881 Q96TG3
Symbols LYSP100
LYSP100-A
LYSP100-B

Gene

PDB

2MD7   2MD8  

  Ortholog (2)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid

 GO Process (1)

Gene RIF (6)

PMID Text
26152201 Data identified rs28445040 variant in SP140 gene as the causal factor for skipping of exon 7 and the most associated with multiple sclerosis.
20731705 Observational study of gene-disease association. (HuGE Navigator)
20332261 Observational study of gene-disease association. (HuGE Navigator)
19149577 Wild-type HIV-1 Vif binds to the carboxyl-terminal region of Sp140 between amino acids 527-836, while Vif mutants with deletions of amino acids 12-23, 43-59, 73-87 or 97-112 are strongly inhibited in their binding to Sp140
12368356 the nuclear body protein Sp140, was found specifically in all NP cells (n = 12 cell lines tested; P < or = 0.001), and HIV-1 infection induced its partial dispersal from nuclear bodies into cytosolic colocalization with Vif
12368356 Wild-type HIV-1 Vif binds to the carboxyl-terminal region of Sp140 between amino acids 527-836, while Vif mutants with deletions of amino acids 12-23, 43-59, 73-87 or 97-112 are strongly inhibited in their binding to Sp140

AA Sequence

MAQQGQQGQMASGDSNLNFRMVAEIQNVEGQNLQEQVCPEPIFRFFRENKVEIASAITRPFPFLMGLRDR      1 - 70
SFISEQMYEHFQEAFRNLVPVTRVMYCVLSELEKTFGWSHLEALFSRINLMAYPDLNEIYRSFQNVCYEH     71 - 140
SPLQMNNVNDLEDRPRLLPYGKQENSNACHEMDDIAVPQEALSSSPRCEPGFSSESCEQLALPKAGGGDA    141 - 210
EDAPSLLPGGGVSCKLAIQIDEGESEEMPKLLPYDTEVLESNGMIDAARTYSTAPGEKQGEEEGRNSPRK    211 - 280
RNQDKEKYQESPEGRDKETFDLKTPQVTNEGEPEKGLCLLPGEGEEGSDDCSEMCDGEEPQEASSSLARC    281 - 350
GSVSCLSAETFDLKTPQVTNEGEPEKELSLLPGEGEEGSDDCSEMCDGEERQEASSSLARRGSVSSELEN    351 - 420
HPMNEEGESEELASSLLYDNVPGAEQSAYENEKCSCVMCFSEEVPGSPEARTESDQACGTMDTVDIANNS    421 - 490
TLGKPKRKRRKKRGHGWSRMRMRRQENSQQNDNSKADGQVVSSEKKANVNLKDLSKIRGRKRGKPGTRFT    491 - 560
QSDRAAQKRVRSRASRKHKDETVDFKAPLLPVTCGGVKGILHKKKLQQGILVKCIQTEDGKWFTPTEFEI    561 - 630
KGGHARSKNWRLSVRCGGWPLRWLMENGFLPDPPRIRYRKKKRILKSQNNSSVDPCMRNLDECEVCRDGG    631 - 700
ELFCCDTCSRVFHEDCHIPPVEAERTPWNCIFCRMKESPGSQQCCQESEVLERQMCPEEQLKCEFLLLKV    701 - 770
YCCSESSFFAKIPYYYYIREACQGLKEPMWLDKIKKRLNEHGYPQVEGFVQDMRLIFQNHRASYKYKDFG    771 - 840
QMGFRLEAEFEKNFKEVFAIQETNGNN                                               841 - 867
//

Text Mined References (20)

PMID Year Title
26888452 2016 Whole Genome DNA Methylation Analysis of Obstructive Sleep Apnea: IL1R2, NPR2, AR, SP140 Methylation and Clinical Phenotype.
26152201 2015 A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.
24292274 2014 A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
24267382 2014 Structure of human Sp140 PHD finger: an atypical fold interacting with Pin1.
23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22700719 2012 Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
20731705 2010 Genetic susceptibility for chronic lymphocytic leukemia among Chinese in Hong Kong.
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