2024-04-27 02:54:46, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001188 2203 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens BCL2-antagonist/killer 1 (BAK1), mRNA. ACCESSION NM_001188 VERSION NM_001188.3 GI:109698605 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2203) AUTHORS Beverly,L.J., Howell,L.A., Hernandez-Corbacho,M., Casson,L., Chipuk,J.E. and Siskind,L.J. TITLE BAK activation is necessary and sufficient to drive ceramide synthase-dependent ceramide accumulation following inhibition of BCL2-like proteins JOURNAL Biochem. J. 452 (1), 111-119 (2013) PUBMED 23480852 REMARK GeneRIF: BAK activation increases ceramide synthase levels and ceramide accumulation in tumor cell lines. REFERENCE 2 (bases 1 to 2203) AUTHORS Moldoveanu,T., Grace,C.R., Llambi,F., Nourse,A., Fitzgerald,P., Gehring,K., Kriwacki,R.W. and Green,D.R. TITLE BID-induced structural changes in BAK promote apoptosis JOURNAL Nat. Struct. Mol. Biol. 20 (5), 589-597 (2013) PUBMED 23604079 REMARK GeneRIF: BAK activation follows a 'hit-and-run' mechanism whereby BID dissociates from the trigger site, which allows BAK oligomerization at an overlapping interface. REFERENCE 3 (bases 1 to 2203) AUTHORS Leshchiner,E.S., Braun,C.R., Bird,G.H. and Walensky,L.D. TITLE Direct activation of full-length proapoptotic BAK JOURNAL Proc. Natl. Acad. Sci. U.S.A. 110 (11), E986-E995 (2013) PUBMED 23404709 REMARK GeneRIF: activation of both BAK and BAX is initiated by direct BH3-interaction but at distinct trigger sites. REFERENCE 4 (bases 1 to 2203) AUTHORS Tran,V.H., Bartolo,R., Westphal,D., Alsop,A., Dewson,G. and Kluck,R.M. TITLE Bak apoptotic function is not directly regulated by phosphorylation JOURNAL Cell Death Dis 4, E452 (2013) PUBMED 23303126 REMARK GeneRIF: Bak is not significantly phosphorylated at any residue, and Bak activation during apoptosis does not require dephosphorylation. Publication Status: Online-Only REFERENCE 5 (bases 1 to 2203) AUTHORS Kim,M.S., Kim,S.S., Yoo,N.J. and Lee,S.H. TITLE Rare somatic mutation of pro-apoptotic BAX and BAK genes in common human cancers JOURNAL Tumori 98 (6), 149E-151E (2012) PUBMED 23389372 REMARK GeneRIF: data indicate that somatic mutation of BAX and BAK genes are rare in the common cancers (besides the cancers with high microsatellite instability) and suggest that neither BAX nor BAK mutation may causally be implicated in their tumorigenesis REFERENCE 6 (bases 1 to 2203) AUTHORS Sattler,M., Liang,H., Nettesheim,D., Meadows,R.P., Harlan,J.E., Eberstadt,M., Yoon,H.S., Shuker,S.B., Chang,B.S., Minn,A.J., Thompson,C.B. and Fesik,S.W. TITLE Structure of Bcl-xL-Bak peptide complex: recognition between regulators of apoptosis JOURNAL Science 275 (5302), 983-986 (1997) PUBMED 9020082 REFERENCE 7 (bases 1 to 2203) AUTHORS Chittenden,T., Flemington,C., Houghton,A.B., Ebb,R.G., Gallo,G.J., Elangovan,B., Chinnadurai,G. and Lutz,R.J. TITLE A conserved domain in Bak, distinct from BH1 and BH2, mediates cell death and protein binding functions JOURNAL EMBO J. 14 (22), 5589-5596 (1995) PUBMED 8521816 REFERENCE 8 (bases 1 to 2203) AUTHORS Kiefer,M.C., Brauer,M.J., Powers,V.C., Wu,J.J., Umansky,S.R., Tomei,L.D. and Barr,P.J. TITLE Modulation of apoptosis by the widely distributed Bcl-2 homologue Bak JOURNAL Nature 374 (6524), 736-739 (1995) PUBMED 7715731 REFERENCE 9 (bases 1 to 2203) AUTHORS Chittenden,T., Harrington,E.A., O'Connor,R., Flemington,C., Lutz,R.J., Evan,G.I. and Guild,B.C. TITLE Induction of apoptosis by the Bcl-2 homologue Bak JOURNAL Nature 374 (6524), 733-736 (1995) PUBMED 7715730 REFERENCE 10 (bases 1 to 2203) AUTHORS Farrow,S.N., White,J.H., Martinou,I., Raven,T., Pun,K.T., Grinham,C.J., Martinou,J.C. and Brown,R. TITLE Cloning of a bcl-2 homologue by interaction with adenovirus E1B 19K JOURNAL Nature 374 (6524), 731-733 (1995) PUBMED 7715729 REMARK Erratum:[Nature 1995 Jun 1;375(6530):431] COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CB142221.1, BC004431.1, Z93017.6 and BM855203.1. On Jun 28, 2006 this sequence version replaced gi:33457353. Summary: The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC004431.1, U16811.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-89 CB142221.1 1-89 90-1008 BC004431.1 1-919 1009-1965 Z93017.6 80204-81160 c 1966-2203 BM855203.1 1-238 FEATURES Location/Qualifiers source 1..2203 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="6" /map="6p21.3" gene 1..2203 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /note="BCL2-antagonist/killer 1" /db_xref="GeneID:578" /db_xref="HGNC:949" /db_xref="HPRD:02744" /db_xref="MIM:600516" exon 1..269 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /inference="alignment:Splign:1.39.8" exon 270..370 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /inference="alignment:Splign:1.39.8" misc_feature 295..297 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /note="upstream in-frame stop codon" CDS 301..936 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /note="pro-apoptotic protein BAK; apoptosis regulator BAK; BCL2-like 7 protein; bcl2-L-7; bcl-2-like protein 7" /codon_start=1 /product="bcl-2 homologous antagonist/killer" /protein_id="NP_001179.1" /db_xref="GI:4502363" /db_xref="CCDS:CCDS4781.1" /db_xref="GeneID:578" /db_xref="HGNC:949" /db_xref="HPRD:02744" /db_xref="MIM:600516" /translation="
MASGQGPGPPRQECGEPALPSASEEQVAQDTEEVFRSYVFYRHQQEQEAEGVAAPADPEMVTLPLQPSSTMGQVGRQLAIIGDDINRRYDSEFQTMLQHLQPTAENAYEYFTKIATSLFESGINWGRVVALLGFGYRLALHVYQHGLTGFLGQVTRFVVDFMLHHCIARWIAQRGGWVAALNLGNGPILNVLVVLGVVLLGQFVVRRFFKS
" misc_feature 385..837 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /note="Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane...; Region: Bcl-2_like; cd06845" /db_xref="CDD:132900" misc_feature 385..426 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /note="BH4; other site" /db_xref="CDD:132900" misc_feature 520..564 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q16611.1); Region: BH3" misc_feature 532..558 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /note="BH3; other site" /db_xref="CDD:132900" misc_feature order(541..546,550..555,565..567,574..579,625..630, 637..642,649..654,670..672,676..681,685..690,700..702, 712..714) /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /note="BH3-homology region binding site; other site" /db_xref="CDD:132900" misc_feature 649..708 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q16611.1); Region: BH1" misc_feature order(649..657,667..705) /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /note="BH1; other site" /db_xref="CDD:132900" misc_feature 805..852 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q16611.1); Region: BH2" misc_feature 805..837 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /note="BH2; other site" /db_xref="CDD:132900" misc_feature 862..915 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q16611.1); transmembrane region" variation 342 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="c" /replace="t" /db_xref="dbSNP:2227925" exon 371..506 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /inference="alignment:Splign:1.39.8" variation 383 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="c" /replace="t" /db_xref="dbSNP:4987115" variation 425 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="a" /replace="g" /db_xref="dbSNP:1051911" variation 455 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="c" /replace="t" /db_xref="dbSNP:1051912" exon 507..650 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /inference="alignment:Splign:1.39.8" variation 507 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="a" /replace="c" /db_xref="dbSNP:5745592" variation 543 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="c" /replace="t" /db_xref="dbSNP:1051913" exon 651..831 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /inference="alignment:Splign:1.39.8" exon 832..2193 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /inference="alignment:Splign:1.39.8" variation 1108 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="c" /replace="g" /db_xref="dbSNP:5745596" variation 1178 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="a" /replace="g" /db_xref="dbSNP:5745597" STS 1224..1568 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /standard_name="D11S4366" /db_xref="UniSTS:38127" STS 1916..2059 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /standard_name="RH64934" /db_xref="UniSTS:89222" variation 2086 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="a" /replace="g" /db_xref="dbSNP:1051940" variation 2092 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="c" /replace="t" /db_xref="dbSNP:1051945" variation 2124 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="a" /replace="g" /db_xref="dbSNP:1051958" variation 2141 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" /replace="a" /replace="c" /db_xref="dbSNP:1051964" polyA_signal 2166..2171 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" polyA_site 2183 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" polyA_site 2187 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" polyA_site 2193 /gene="BAK1" /gene_synonym="BAK; BAK-LIKE; BCL2L7; CDN1" ORIGIN
gtctgcatccggtggccacagagcaacttcctctagagggagctgattggagccgggtgccgctggcacctctatgatcactggagtctcgcgggtccctcgggctgcacagggacaagtaaaggctacatccagatgccgggaatgcactgacgcccattcctggaaactgggctcccactcagcccctgggagcagcagccgccagcccctcgggacctccatctccaccctgctgagccacccgggttgggccaggatcccggcaggctgatcccgtcctccactgagacctgaaaaatggcttcggggcaaggcccaggtcctcccaggcaggagtgcggagagcctgccctgccctctgcttctgaggagcaggtagcccaggacacagaggaggttttccgcagctacgttttttaccgccatcagcaggaacaggaggctgaaggggtggctgcccctgccgacccagagatggtcaccttacctctgcaacctagcagcaccatggggcaggtgggacggcagctcgccatcatcggggacgacatcaaccgacgctatgactcagagttccagaccatgttgcagcacctgcagcccacggcagagaatgcctatgagtacttcaccaagattgccaccagcctgtttgagagtggcatcaattggggccgtgtggtggctcttctgggcttcggctaccgtctggccctacacgtctaccagcatggcctgactggcttcctaggccaggtgacccgcttcgtggtcgacttcatgctgcatcactgcattgcccggtggattgcacagaggggtggctgggtggcagccctgaacttgggcaatggtcccatcctgaacgtgctggtggttctgggtgtggttctgttgggccagtttgtggtacgaagattcttcaaatcatgactcccaagggtgccctttggggtcccggttcagacccctgcctggacttaagcgaagtctttgccttctctgttcccttgcaggggtcccccctcaagagtacagaagctttagcaagtgtgcactccagcttcggagggcccctgcgtgggggccagtcaggctgcagaggcacctcaacattgcatggtgctagtgggccctctctctgggcccaggggctgtggccgtctcctccctcagctctctgggacctccttagccctgtctgctaggcgctggggagactgataacttggggaggcaagagactgggagccacttctccccagaaagtgtttaacggttttagctttttataatacccttgtgagagcccattcccaccattctacctgaggccaggacgtctggggtgtggggattggtgggtctatgttccccaggattcagctattctggaagatcagcaccctaagagatgggactaggacctgagcctggtcctggccgtccctaagcatgtgtcccaggagcaggacctactaggagaggggggccaaggtcctgctcaactctacccctgctcccattcctccctccggccatactgcctttgcagttggactctcagggattctgggcttggggtgtggggtggggtggagtcgcagaccagagctgtctgaactcacgtgtcagaagcctccaagcctgcctcccaaggtcctctcagttctctcccttcctctctccttatagacacttgctcccaacccattcactacaggtgaaggctctcacccccatccctgggggccttgggtgagtggcctgctaaggctcctccttgcccagactacagggcttaggacttggtttgttatatcagggaaaaggagtagggagttcatctggagggttctaagtgggagaaggactatcaacaccactaggaatcccagaggtgggatcctccctcatggctctggcacagtgtaatccaggggtgtagatgggggaactgtgaatacttgaactctgttcccccaccctccatgctcctcacctgtctaggtctcctcagggtggggggtgacagtgccttctctattgggcacagcctagggtcttgggggtcaggggggagaagttcttgattcagccaaatgcagggaggggaggcagatggagcccataggccaccccctatcctctgagtgtttggaaataaactgtgcaatcccctcaccctgaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:578 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:578 -> Molecular function: GO:0031072 [heat shock protein binding] evidence: IEA GeneID:578 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI GeneID:578 -> Molecular function: GO:0042803 [protein homodimerization activity] evidence: IEA GeneID:578 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA GeneID:578 -> Molecular function: GO:0046982 [protein heterodimerization activity] evidence: IPI GeneID:578 -> Molecular function: GO:0051087 [chaperone binding] evidence: IEA GeneID:578 -> Molecular function: GO:0051400 [BH domain binding] evidence: IEA GeneID:578 -> Biological process: GO:0001782 [B cell homeostasis] evidence: IEA GeneID:578 -> Biological process: GO:0001783 [B cell apoptotic process] evidence: IEA GeneID:578 -> Biological process: GO:0001836 [release of cytochrome c from mitochondria] evidence: IDA GeneID:578 -> Biological process: GO:0001836 [release of cytochrome c from mitochondria] evidence: IGI GeneID:578 -> Biological process: GO:0001974 [blood vessel remodeling] evidence: IEA GeneID:578 -> Biological process: GO:0002262 [myeloid cell homeostasis] evidence: IEA GeneID:578 -> Biological process: GO:0002352 [B cell negative selection] evidence: IEA GeneID:578 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:578 -> Biological process: GO:0007420 [brain development] evidence: IEA GeneID:578 -> Biological process: GO:0007568 [aging] evidence: IEA GeneID:578 -> Biological process: GO:0008053 [mitochondrial fusion] evidence: IEA GeneID:578 -> Biological process: GO:0008283 [cell proliferation] evidence: IEA GeneID:578 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IEA GeneID:578 -> Biological process: GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] evidence: IEA GeneID:578 -> Biological process: GO:0009620 [response to fungus] evidence: IEA GeneID:578 -> Biological process: GO:0010046 [response to mycotoxin] evidence: IEA GeneID:578 -> Biological process: GO:0010225 [response to UV-C] evidence: IEA GeneID:578 -> Biological process: GO:0010248 [establishment or maintenance of transmembrane electrochemical gradient] evidence: IDA GeneID:578 -> Biological process: GO:0010332 [response to gamma radiation] evidence: IEA GeneID:578 -> Biological process: GO:0010524 [positive regulation of calcium ion transport into cytosol] evidence: IEA GeneID:578 -> Biological process: GO:0010629 [negative regulation of gene expression] evidence: IEA GeneID:578 -> Biological process: GO:0014070 [response to organic cyclic compound] evidence: IEA GeneID:578 -> Biological process: GO:0031018 [endocrine pancreas development] evidence: IEA GeneID:578 -> Biological process: GO:0031100 [organ regeneration] evidence: IEA GeneID:578 -> Biological process: GO:0032471 [reduction of endoplasmic reticulum calcium ion concentration] evidence: IEA GeneID:578 -> Biological process: GO:0033137 [negative regulation of peptidyl-serine phosphorylation] evidence: IEA GeneID:578 -> Biological process: GO:0034644 [cellular response to UV] evidence: IMP GeneID:578 -> Biological process: GO:0034644 [cellular response to UV] evidence: ISS GeneID:578 -> Biological process: GO:0035108 [limb morphogenesis] evidence: IEA GeneID:578 -> Biological process: GO:0042493 [response to drug] evidence: IEA GeneID:578 -> Biological process: GO:0042542 [response to hydrogen peroxide] evidence: IEA GeneID:578 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: IMP GeneID:578 -> Biological process: GO:0043496 [regulation of protein homodimerization activity] evidence: IDA GeneID:578 -> Biological process: GO:0043497 [regulation of protein heterodimerization activity] evidence: IDA GeneID:578 -> Biological process: GO:0045471 [response to ethanol] evidence: IEA GeneID:578 -> Biological process: GO:0045862 [positive regulation of proteolysis] evidence: IDA GeneID:578 -> Biological process: GO:0046902 [regulation of mitochondrial membrane permeability] evidence: IDA GeneID:578 -> Biological process: GO:0048597 [post-embryonic camera-type eye morphogenesis] evidence: IEA GeneID:578 -> Biological process: GO:0051726 [regulation of cell cycle] evidence: IEA GeneID:578 -> Biological process: GO:0051881 [regulation of mitochondrial membrane potential] evidence: IDA GeneID:578 -> Biological process: GO:0060068 [vagina development] evidence: IEA GeneID:578 -> Biological process: GO:0070059 [intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress] evidence: IEA GeneID:578 -> Biological process: GO:0071260 [cellular response to mechanical stimulus] evidence: IEP GeneID:578 -> Biological process: GO:0090200 [positive regulation of release of cytochrome c from mitochondria] evidence: IEA GeneID:578 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: IMP GeneID:578 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS GeneID:578 -> Biological process: GO:0097202 [activation of cysteine-type endopeptidase activity] evidence: IDA GeneID:578 -> Biological process: GO:1900103 [positive regulation of endoplasmic reticulum unfolded protein response] evidence: IMP GeneID:578 -> Biological process: GO:1901030 [positive regulation of mitochondrial outer membrane permeabilization] evidence: TAS GeneID:578 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:578 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: TAS GeneID:578 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IEA GeneID:578 -> Cellular component: GO:0005829 [cytosol] evidence: IEA GeneID:578 -> Cellular component: GO:0031307 [integral to mitochondrial outer membrane] evidence: ISS GeneID:578 -> Cellular component: GO:0046930 [pore complex] evidence: IDA
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