Matches in Ubergraph for { ?s <http://purl.obolibrary.org/obo/NCIT_P98> ?o ?g. }
- NCIT_C105099 NCIT_P98 "Usage of alternative translation initiation sites results in the formation of two isoforms, NELF-C and NELF-D. NELF-D lacks the first 9 amino acids found in NELF-C. (EntrezGene and UniProt)" @default.
- NCIT_C105101 NCIT_P98 "The TMPO gene encodes 3 isoforms that are produced by alternative splicing that affects the 3' end of the transcript." @default.
- NCIT_C105102 NCIT_P98 "Lamina-associated polypeptide 2, isoform alpha is cleaved to form 2 polypeptides: thymopoietin (TP, Splenin) and thymopentin (TP5). Both polypeptides may be involved in T-cell function. (UniProt)" @default.
- NCIT_C105102 NCIT_P98 "Lamina-associated polypeptide 2, isoform alpha is expressed diffusely throughout the nucleus. (UniProt)" @default.
- NCIT_C105103 NCIT_P98 "Lamina-associated polypeptide 2, isoforms beta/gamma is a transmembrane protein in the inner nuclear membrane. (UniProt)" @default.
- NCIT_C105103 NCIT_P98 "Lamina-associated polypeptide 2, isoforms beta/gamma is cleaved to form 2 polypeptides: thymopoietin (TP, Splenin) and thymopentin (TP5). Both polypeptides play a role in T-cell function. (UniProt)" @default.
- NCIT_C105104 NCIT_P98 "Tue Feb 11 17:46:16 GMT 2014 - See 'Thymopoietin'" @default.
- NCIT_C105116 NCIT_P98 "Prostaglandin E synthase 2 activates the transcription of gamma-IFN-activated transcriptional element-dependent genes by an unknown mechanism. (J Biol Chem. 2002; 277:30253-63.)" @default.
- NCIT_C105147 NCIT_P98 "Thu Aug 25 12:31:18 EDT 2022 - See 'Pegulicianine Acetate(C175839)'" @default.
- NCIT_C105156 NCIT_P98 "Ensembl and HGNC place this gene at 1p12." @default.
- NCIT_C105156 NCIT_P98 "The human HSD3B1 and HSD3B2 genes have 93.6% sequence identity, including the 5-prime and 3-prime untranslated regions. (OMIM)" @default.
- NCIT_C105159 NCIT_P98 "Ensembl and HGNC place this gene at 5p15.31" @default.
- NCIT_C105362 NCIT_P98 "APOE*4 allele is characterized by one point mutation, c.388T>C. The ancestral cytosine at position 526 must also be present." @default.
- NCIT_C105364 NCIT_P98 "Apolipoprotein E4 isoforms are characterized by the presence of two amino acids, arginine at 130 and arginine at 176." @default.
- NCIT_C105368 NCIT_P98 "High Affinity Nerve Growth Factor Receptor Isoform TrkA-III isoform is specifically expressed by pluripotent neural stem and neural crest progenitors and its expression is stimulated by hypoxia. (UniProt)" @default.
- NCIT_C105368 NCIT_P98 "High affinity nerve growth factor receptor isoform TrkA-III does not bind NGF and does not interact with the adaptor molecules GRB2 and FRS2. (UniProt)" @default.
- NCIT_C105373 NCIT_P98 "MIR518E pre-miRNA is processed into hsa-miR-518e-5p and hsa-miR-518e-3q." @default.
- NCIT_C105385 NCIT_P98 "EntrezGene characterizes the ST2 gene as Gene Type other and HGNC characterizes it as Locus Type phenotype only." @default.
- NCIT_C105388 NCIT_P98 "The ubiquitin carboxyl-terminal hydrolase isozyme L1 homodimer may have ATP-independent ubiquitin ligase activity. (UniProt)" @default.
- NCIT_C105422 NCIT_P98 "Substrates for UDP-glucoronosyltransferase 2B15 include several classes of xenobiotic substrates, such as simple phenolic compounds, 7-hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens. (UniProt)" @default.
- NCIT_C105425 NCIT_P98 "Substrates for UDP-glucoronosyltransferase 2B17 include eugenol, 4-methylumbelliferone, dihydrotestosterone (DHT), androstane-3-alpha,17-beta-diol (3-alpha-diol), testosterone and androsterone. (UniProt)" @default.
- NCIT_C105427 NCIT_P98 "Three transcript variants encoding two different isoforms have been found for this gene." @default.
- NCIT_C105558 NCIT_P98 "Alternative splicing results in multiple transcript variants." @default.
- NCIT_C105558 NCIT_P98 "Pseudogenes have been identified on chromosomes 1, 4, 6 and 7." @default.
- NCIT_C105564 NCIT_P98 "Transcript variants encoding different isoforms exist for this gene." @default.
- NCIT_C105573 NCIT_P98 "Alternative splicing in the unique 5' end of this gene results in two transcript variants." @default.
- NCIT_C105606 NCIT_P98 "Ensembl and Hugo place this gene at 10p11.22" @default.
- NCIT_C105609 NCIT_P98 "Multiple transcript variants encoding several different isoforms have been found for this gene." @default.
- NCIT_C105615 NCIT_P98 "Fri Dec 17 14:21:30 EST 2021 - See 'Alectinib(C101790)'" @default.
- NCIT_C105619 NCIT_P98 "Wed Apr 07 12:01:31 EDT 2021 - See 'As Bad As It Can Be(C104610)'" @default.
- NCIT_C105621 NCIT_P98 "Tue Aug 27 16:12:15 EDT 2013 - See 'San_Antonio_Cancer_Institute'" @default.
- NCIT_C105625 NCIT_P98 "Tue May 21 13:53:13 GMT 2013 - See 'Cancer_Center_at_the_Burnham_Institute'" @default.
- NCIT_C105650 NCIT_P98 "C-circles may be markers for alternative lengthening of telomeres." @default.
- NCIT_C105658 NCIT_P98 "There is evidence for multiple transcript variants for this gene encoding different isoforms. However, only two full-length isoforms have been characterized. (EntrezGene)" @default.
- NCIT_C105681 NCIT_P98 "Keratin, type II cytoskeletal 5 in the epidermis is part of a heterotetramer consisting of two keratin, type I cytoskeletal 14 chains and two keratin, type II cytoskeletal 5 chains. (UniProt)" @default.
- NCIT_C105684 NCIT_P98 "Keratin 6 isomers associate with KRT16 and/or KRT17. (UniProt)" @default.
- NCIT_C105707 NCIT_P98 "Roughly equivalent to ECOG 0" @default.
- NCIT_C105709 NCIT_P98 "Roughly equivalent to ECOG 0" @default.
- NCIT_C105710 NCIT_P98 "Roughly equivalent to ECOG 1" @default.
- NCIT_C105711 NCIT_P98 "Roughly equivalent to ECOG 1" @default.
- NCIT_C105712 NCIT_P98 "Roughly equivalent to ECOG 2" @default.
- NCIT_C105713 NCIT_P98 "Roughly equivalent to ECOG 2" @default.
- NCIT_C105714 NCIT_P98 "Roughly equivalent to ECOG 3" @default.
- NCIT_C105715 NCIT_P98 "Roughly equivalent to ECOG 3" @default.
- NCIT_C105716 NCIT_P98 "Roughly equivalent to ECOG 4" @default.
- NCIT_C105720 NCIT_P98 "Equivalent to ECOG 5" @default.
- NCIT_C105734 NCIT_P98 "Dolichyl-diphosphooligosaccharide-protein glycosyltransferase subunit DAD1 catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent proteins. (UniProt)" @default.
- NCIT_C105738 NCIT_P98 "Selenium is found not as a cofactor in mammalian proteins but as a selenocysteine residue, which is encoded by UGA. In order for the UGA codon to be translated as a selenocysteine rather than a stop codon, a stem-loop structure called a selenocysteine insertion sequence (SECIS) must be present in the 3' untranslated region (UTR) of the selenoprotein mRNA. (OMIM)" @default.
- NCIT_C105815 NCIT_P98 "The one patient that has been documented to have the NUP96/KDM5A fusion gene contained a complex translocation t(11;21;12)(p15;p13;p13). (Atlas of Genetics and Cytogenetics in Oncology and Haematology)" @default.
- NCIT_C105817 NCIT_P98 "The presence of this fusion is associated with poor prognosis." @default.
- NCIT_C105830 NCIT_P98 "Expression of the FKBP5 gene may be a marker for glucocorticoid sensitivity. (OMIM)" @default.
- NCIT_C105837 NCIT_P98 "ATP synthase subunit epsilon, mitochondrial is part of the F1 ATPase catalytic complex. (UniProt)" @default.
- NCIT_C105843 NCIT_P98 "The signaling pathways downstream of ephrin receptors are referred to as forward signaling while the signaling pathways downstream of the ephrin ligands are referred to as reverse signaling. (UniProt)" @default.
- NCIT_C105861 NCIT_P98 "Neurogenin-1 activates transcription by binding to the E box (5'-CANNTG-3'). (UniProt)" @default.
- NCIT_C105905 NCIT_P98 "Substrates for cytochrome P450 2A6 include coumarin, aflatoxin B1, eucalyptol, phenacetin, nicotine, cyclophosphamide and ifosphamide. (UniProt)" @default.
- NCIT_C105971 NCIT_P98 "Elevated levels of calprotectin may be associated with chronic inflammatory diseases." @default.
- NCIT_C105974 NCIT_P98 "HLA-DR15 alpha subunit is encoded by the HLA-DRA*01 allele. The beta subunit is polymorphic and can be encoded by HLA-DRB1*1501, HLA-DRB1*1502, HLA-DRB1*1503, HLA-DRB1*1504, HLA-DRB1*1505 or HLA-DRB1*1507." @default.
- NCIT_C105976 NCIT_P98 "There are 69 known isoforms of the HLA class I histocompatibility antigen, A-24 alpha chain. (UniProt)" @default.
- NCIT_C105979 NCIT_P98 "The 5-HT3 receptor is a non-selective, cation-specific, ligand-gated ion channel. (UniProt)" @default.
- NCIT_C105987 NCIT_P98 "MIR150 pre-miRNA Is processed to form hsa-miR-150-5p and hsa-mir-150-3p. (miRBase)" @default.
- NCIT_C105989 NCIT_P98 "There is evidence that MIR191 can target sequences in the 3' untranslated regions of both the CDK6 and SATB1 genes. (OMIM)" @default.
- NCIT_C105990 NCIT_P98 "MIR191 pre-miRNA Is processed to form hsa-miR-191-5p and hsa-mir-191-3p. (miRBase)" @default.
- NCIT_C106005 NCIT_P98 "Thyroxine-binding globulin appears to have no protease inhibitory activity. (EntrezGene)" @default.
- NCIT_C106011 NCIT_P98 "Interleukin-1 receptor-like 1 is a receptor for interleukin-33 (IL33); signaling requires association of the coreceptor interleukin-1 receptor accessory protein (IL1RAP)." @default.
- NCIT_C106032 NCIT_P98 "RNA editing of the full-length APOB transcript at residue 2180 (CAA->UAA), results in the creation of a stop codon. This truncated mRNA encodes apolipoprotein B-48 (apo B-48), which is found in chylomicron particles. (EntrezGene and UniProt)" @default.
- NCIT_C106055 NCIT_P98 "Thu May 13 14:44:53 EDT 2021 - See 'Bisulfite Sequencing(C106054)'" @default.
- NCIT_C106060 NCIT_P98 "PHD finger protein 20 may acetylate and stabilize cellular tumor antigen p53. (Nat Struct Mol Biol. 2012; 19:916-24 and J Biol Chem. 2012;2 87:11151-11163.)" @default.
- NCIT_C106065 NCIT_P98 "Aberrant expression of the SPARCL1 gene may be associated with malignant prostate cancer and poor prognosis. (PNAS. 2012; 109:14977-14982 .)" @default.
- NCIT_C106068 NCIT_P98 "Chromosomal aberrations resulting in RSPO2 gene fusions are associated with colon cancer. (Nature. 2012; 488:660-664.)" @default.
- NCIT_C106071 NCIT_P98 "Ensembl reports the location of the RRAS gene in the vicinity of 19q13.3." @default.
- NCIT_C106093 NCIT_P98 "Expression of the KIR2DS1 gene by donor cells may be associated with reduced risk of relapse of acute myelogenous leukemia in patients treated with blood stem cell transplants. (NCI Cancer Bulletin. Sept 4, 2012.)" @default.
- NCIT_C106093 NCIT_P98 "Members of the KIR gene family are polymorphic and highly homologous. These genes are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). (EntrezGene)" @default.
- NCIT_C106096 NCIT_P98 "Ensembl reports the location of the VAMP1 gene in the vicinity of 12p13.31." @default.
- NCIT_C106096 NCIT_P98 "Mutation of the VAMP1 gene may be associated with dominantly inherited hereditary spastic ataxia. (Am J Hum Genet. 2012; 91:548-552.)" @default.
- NCIT_C106141 NCIT_P98 "Cryptochrome-2 has no photolyase activity. (UniProt)" @default.
- NCIT_C106217 NCIT_P98 "UniProt reports a protein, putative Wilms tumor upstream neighbor 1 gene protein (92 aa, ~10 kDa) with the Swiss_Prot identifier Q06250, but caution that it is the product of a dubious coding domain sequence (CDS) prediction." @default.
- NCIT_C106219 NCIT_P98 "Ensembl reports that the TAOK3 gene is located in the vicinity of 12q24.23." @default.
- NCIT_C106248 NCIT_P98 "Thu Jan 13 13:08:42 EST 2022 - See 'Birtamimab(C142958)'" @default.
- NCIT_C106286 NCIT_P98 "This gene encodes a subunit of the GATOR1 (GAP Activity TOward Rags 1) complex, which inhibits the amino acid-sensing branch of the mTORC1 pathway." @default.
- NCIT_C106288 NCIT_P98 "DEPDC5, NPRL2 and NPRL3 are subunits of the GATOR1 (GAP Activity TOward Rags 1) complex, which inhibits the amino acid-sensing branch of the mTORC1 pathway." @default.
- NCIT_C106308 NCIT_P98 "Uracil-DNA glycosylase has 2 isoforms produced by alternative splicing. Isoform 1 is widely expressed and found in mitochondria. Isoform 2 is expressed in proliferating tissues and is found in the nucleus and is the canonical form according to UniProt." @default.
- NCIT_C106333 NCIT_P98 "Long-chain fatty acid transport protein 3 does not appear to play a role in fatty acid transport. (UniProt)" @default.
- NCIT_C106341 NCIT_P98 "Fusion of the FAM131B gene with the BRAF gene may be associated with pilocytic astrocytoma. (Acta Neuropathol. 2011; 121:763-774.)" @default.
- NCIT_C106344 NCIT_P98 "The KLC1 gene undergoes extensive alternative splicing producing isoforms with different carboxyl-terminal amino acid sequences, which are proposed to bind to different cargos. The full-length nature and/or biological validity of most of these variants have not been determined. (EntrezGene)" @default.
- NCIT_C106351 NCIT_P98 "The expression of a newly described variant form of Cip1-interacting zinc finger protein, which has an in-frame deletion of eight amino acids (758-765; VEEELCKQ), may be a biomarker for early-stage lung cancer. (PNAS. 2012; 109:E3128-E3135 .)" @default.
- NCIT_C106370 NCIT_P98 "Mon Jan 10 13:58:30 EST 2022 - See 'Tepotinib(C88314)'" @default.
- NCIT_C106414 NCIT_P98 "GeneID 11277 was annotated as a single gene with two non-overlapping coding regions. GeneID 11277 now represents only the downstream coding region encoding three prime repair exonuclease 1 (TREX1). The upstream coding region encoding ATR-interacting protein (ATRIP) is represented by geneID 84126. (29 May 2007, EntrezGene)" @default.
- NCIT_C106415 NCIT_P98 "It was originally thought that three prime repair exonuclease 1 and ATR-interacting protein were encoded by alternatively spliced transcripts from the same gene. They are now considered to be products of neighboring genes." @default.
- NCIT_C106421 NCIT_P98 "Orexin is proteolytically processed to form 2 active neuropeptides orexin-A (hypocretin-1, Hcrt1) and orexin-B (hypocretin-2, Hcrt2). (UniProt)" @default.
- NCIT_C106440 NCIT_P98 "PSAP mutations that cause saposin-B deficiency are associated with metachromatic leukodystrophy due to saposin B deficiency. Mutations that cause saposin-C deficiency are associated with Gaucher disease. Mutations that cause saposin-A deficiency are associated with Krabbe disease. Certain point mutations affecting the saposin-D region are associated with autosomal dominant Parkinson disease type 24. Loss of function mutations, especially mutations resulting in premature stop codons in the PSAP coding sequence, are associated with combined saposin (SAP) deficiency. (OMIM)" @default.
- NCIT_C106441 NCIT_P98 "Prosaposin is cleaved into the following active polypeptides saposin-A (protein A), saposin-B-Val, saposin-B (cerebroside sulfate activator, CSAct, dispersin, sphingolipid activator protein 1, SAP-1, sulfatide/GM1 activator), saposin-C (A1 activator, Co-beta-glucosidase, glucosylceramidase activator, sphingolipid activator protein 2, SAP-2), saposin-D (component C, protein C). (UniProt)" @default.
- NCIT_C106441 NCIT_P98 "The UniProt canonical sequence corresponds to the Sap-mu-0 isoform of prosaposin." @default.
- NCIT_C106452 NCIT_P98 "This gene is a putative tumor suppressor gene." @default.
- NCIT_C106458 NCIT_P98 "Alternative splicing produces two transcript variants that encode the same protein. (RefSeq)" @default.
- NCIT_C106458 NCIT_P98 "Ensembl has this gene at 6p11.2 and HGNC has it at 6p12.1." @default.
- NCIT_C106592 NCIT_P98 "Alternative splicing results in multiple transcript variants encoding different protein isoforms. (RefSeq)" @default.
- NCIT_C106612 NCIT_P98 "Alternatively spliced transcript variants encoding the same protein have been observed. (RefSeq)" @default.
- NCIT_C107115 NCIT_P98 "Type VII collagen fibrils are composed of homotrimers of collagen alpha-1(VII) chain." @default.
- NCIT_C107132 NCIT_P98 "Alternate splicing results in isoforms containing either 317 or 344 amino acids." @default.
- NCIT_C107151 NCIT_P98 "Even though the literature refers to lysine 27 methylation or amino acid variation/mutation, RefSeq indicates that the lysine is located at amino acid position 28 in histone H3. (see https://link.springer.com/article/10.1007/s00401-018-1867-2)" @default.