2024-04-27 03:56:02, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001160 7042 bp mRNA linear PRI 26-MAY-2013 DEFINITION Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 2, mRNA. ACCESSION NM_001160 VERSION NM_001160.2 GI:32483364 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 7042) AUTHORS Yuan,S., Topf,M., Reubold,T.F., Eschenburg,S. and Akey,C.W. TITLE Changes in Apaf-1 conformation that drive apoptosome assembly JOURNAL Biochemistry 52 (13), 2319-2327 (2013) PUBMED 23521171 REMARK GeneRIF: Apaf-1 conformational changes during apoptosome assembly. REFERENCE 2 (bases 1 to 7042) AUTHORS Li,T., Zeng,L., Gao,W., Cui,M.Z., Fu,X. and Xu,X. TITLE PSAP induces a unique Apaf-1 and Smac-dependent mitochondrial apoptotic pathway independent of Bcl-2 family proteins JOURNAL Biochim. Biophys. Acta 1832 (3), 453-474 (2013) PUBMED 23207240 REMARK GeneRIF: Data indicate that the formation of cytochrome c-Apaf-1 apoptosome and the presence of Smac are absolutely required for PSAP-induced apoptosis. REFERENCE 3 (bases 1 to 7042) AUTHORS Andreev,D.E., Dmitriev,S.E., Zinovkin,R., Terenin,I.M. and Shatsky,I.N. TITLE The 5' untranslated region of Apaf-1 mRNA directs translation under apoptosis conditions via a 5' end-dependent scanning mechanism JOURNAL FEBS Lett. 586 (23), 4139-4143 (2012) PUBMED 23085065 REMARK GeneRIF: The 5' untranslated region of Apaf-1 mRNA directs translation under apoptosis conditions via a 5' end-dependent scanning mechanism. REFERENCE 4 (bases 1 to 7042) AUTHORS Zang,Y.S., Zhong,Y.F., Fang,Z., Li,B. and An,J. TITLE MiR-155 inhibits the sensitivity of lung cancer cells to cisplatin via negative regulation of Apaf-1 expression JOURNAL Cancer Gene Ther. 19 (11), 773-778 (2012) PUBMED 22996741 REMARK GeneRIF: Both the silencing of miR-155 and the overexpression Apaf-1 greatly increased the sensitivity of A549 cells to cisplatin. REFERENCE 5 (bases 1 to 7042) AUTHORS Wang,J., Xiao,X., Zhang,Y., Shi,D., Chen,W., Fu,L., Liu,L., Xie,F., Kang,T., Huang,W. and Deng,W. TITLE Simultaneous modulation of COX-2, p300, Akt, and Apaf-1 signaling by melatonin to inhibit proliferation and induce apoptosis in breast cancer cells JOURNAL J. Pineal Res. 53 (1), 77-90 (2012) PUBMED 22335196 REMARK GeneRIF: melatonin inhibits cell proliferation and induces apoptosis in MDA-MB-361 breast cancer cells in vitro by simultaneously suppressing the COX-2/PGE2, p300/NF-kappaB, and PI3K/Akt/signaling and activating the Apaf-1/caspase-dependent apoptotic pathway. REFERENCE 6 (bases 1 to 7042) AUTHORS Srinivasula,S.M., Ahmad,M., Fernandes-Alnemri,T. and Alnemri,E.S. TITLE Autoactivation of procaspase-9 by Apaf-1-mediated oligomerization JOURNAL Mol. Cell 1 (7), 949-957 (1998) PUBMED 9651578 REFERENCE 7 (bases 1 to 7042) AUTHORS Hu,Y., Benedict,M.A., Wu,D., Inohara,N. and Nunez,G. TITLE Bcl-XL interacts with Apaf-1 and inhibits Apaf-1-dependent caspase-9 activation JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (8), 4386-4391 (1998) PUBMED 9539746 REFERENCE 8 (bases 1 to 7042) AUTHORS Pan,G., O'Rourke,K. and Dixit,V.M. TITLE Caspase-9, Bcl-XL, and Apaf-1 form a ternary complex JOURNAL J. Biol. Chem. 273 (10), 5841-5845 (1998) PUBMED 9488720 REFERENCE 9 (bases 1 to 7042) AUTHORS Li,P., Nijhawan,D., Budihardjo,I., Srinivasula,S.M., Ahmad,M., Alnemri,E.S. and Wang,X. TITLE Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade JOURNAL Cell 91 (4), 479-489 (1997) PUBMED 9390557 REFERENCE 10 (bases 1 to 7042) AUTHORS Zou,H., Henzel,W.J., Liu,X., Lutschg,A. and Wang,X. TITLE Apaf-1, a human protein homologous to C. elegans CED-4, participates in cytochrome c-dependent activation of caspase-3 JOURNAL Cell 90 (3), 405-413 (1997) PUBMED 9267021 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF013263.1 and AC011248.8. On Jul 9, 2003 this sequence version replaced gi:4502122. Summary: This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in the coding region but maintains the reading frame, compared to variant 3. Variant 2 encodes isoform b, which is shorter than isoform c. 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 :: AF013263.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-5167 AF013263.1 1-5167 5168-5168 AC011248.8 25332-25332 c 5169-6588 AF013263.1 5169-6588 6589-6589 AC011248.8 23911-23911 c 6590-6609 AF013263.1 6590-6609 6610-6610 AC011248.8 23890-23890 c 6611-7042 AF013263.1 6611-7042 FEATURES Location/Qualifiers source 1..7042 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q23" gene 1..7042 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="apoptotic peptidase activating factor 1" /db_xref="GeneID:317" /db_xref="HGNC:576" /db_xref="HPRD:03755" /db_xref="MIM:602233" exon 1..536 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 20 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:367782321" variation 38 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:116501350" variation 68 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:371572763" variation 69 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:113577911" variation 90 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:11109556" variation 94 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:113907867" variation 106 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:74619561" variation 134 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:192062352" variation 249 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="g" /db_xref="dbSNP:2118851" variation 293 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="g" /db_xref="dbSNP:139550753" variation 390 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:2118852" exon 537..715 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 567 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:111232069" misc_feature 569..571 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="upstream in-frame stop codon" CDS 578..4162 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="isoform b is encoded by transcript variant 2; apoptotic protease-activating factor 1" /codon_start=1 /product="apoptotic protease-activating factor 1 isoform b" /protein_id="NP_001151.1" /db_xref="GI:4502123" /db_xref="CCDS:CCDS55863.1" /db_xref="GeneID:317" /db_xref="HGNC:576" /db_xref="HPRD:03755" /db_xref="MIM:602233" /translation="
MDAKARNCLLQHREALEKDIKTSYIMDHMISDGFLTISEEEKVRNEPTQQQRAAMLIKMILKKDNDSYVSFYNALLHEGYKDLAALLHDGIPVVSSSSVRTVLCEGGVPQRPVVFVTRKKLVNAIQQKLSKLKGEPGWVTIHGMAGCGKSVLAAEAVRDHSLLEGCFPGGVHWVSVGKQDKSGLLMKLQNLCTRLDQDESFSQRLPLNIEEAKDRLRILMLRKHPRSLLILDDVWDSWVLKAFDSQCQILLTTRDKSVTDSVMGPKYVVPVESSLGKEKGLEILSLFVNMKKADLPEQAHSIIKECKGSPLVVSLIGALLRDFPNRWEYYLKQLQNKQFKRIRKSSSYDYEALDEAMSISVEMLREDIKDYYTDLSILQKDVKVPTKVLCILWDMETEEVEDILQEFVNKSLLFCDRNGKSFRYYLHDLQVDFLTEKNCSQLQDLHKKIITQFQRYHQPHTLSPDQEDCMYWYNFLAYHMASAKMHKELCALMFSLDWIKAKTELVGPAHLIHEFVEYRHILDEKDCAVSENFQEFLSLNGHLLGRQPFPNIVQLGLCEPETSEVYQQAKLQAKQEVDNGMLYLEWINKKNITNLSRLVVRPHTDAVYHACFSEDGQRIASCGADKTLQVFKAETGEKLLEIKAHEDEVLCCAFSTDDRFIATCSVDKKVKIWNSMTGELVHTYDEHSEQVNCCHFTNSSHHLLLATGSSDCFLKLWDLNQKECRNTMFGHTNSVNHCRFSPDDKLLASCSADGTLKLWDATSANERKSINVKQFFLNLEDPQEDMEVIVKCCSWSADGARIMVAAKNKIFLWNTDSRSKVADCRGHLSWVHGVMFSPDGSSFLTSSDDQTIRLWETKKVCKNSAVMLKQEVDVVFQENEVMVLAVDHIRRLQLINGRTGQIDYLTEAQVSCCCLSPHLQYIAFGDENGAIEILELVNNRIFQSRFQHKKTVWHIQFTADEKTLISSSDDAEIQVWNWQLDKCIFLRGHQETVKDFRLLKNSRLLSWSFDGTVKVWNIITGNKEKDFVCHQGTVLSCDISHDATKFSSTSADKTAKIWSFDLLLPLHELRGHNGCVRCSAFSVDSTLLATGDDNGEIRIWNVSNGELLHLCAPLSEEGAATHGGWVTDLCFSPDGKMLISAGGYIKWWNVVTGESSQTFYTNGTNLKKIHVSPDFKTYVTVDNLGILYILQTLE
" misc_feature 596..853 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="Caspase activation and recruitment domain similar to that found in Apoptotic Protease-Activating Factor 1; Region: CARD_APAF1; cd08323" /db_xref="CDD:176737" misc_feature order(644..649,656..661,665..670,686..688,695..697) /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="APAF1-Caspase9 interaction site [polypeptide binding]; other site" /db_xref="CDD:176737" misc_feature 920..1279 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="AAA ATPase domain; Region: AAA_16; pfam13191" /db_xref="CDD:205372" misc_feature 929..1786 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="NB-ARC domain; Region: NB-ARC; pfam00931" /db_xref="CDD:201512" misc_feature 1154..1156 /gene="APAF1" /gene_synonym="APAF-1; CED4" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1256..1258 /gene="APAF1" /gene_synonym="APAF-1; CED4" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1286..1288 /gene="APAF1" /gene_synonym="APAF-1; CED4" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 2363..3154 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from...; Region: WD40; cd00200" /db_xref="CDD:29257" misc_feature <2372..3274 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="FOG: WD40 repeat [General function prediction only]; Region: COG2319" /db_xref="CDD:32473" misc_feature order(2384..2386,2438..2440,2450..2452,2468..2473, 2507..2512,2564..2566,2576..2578,2594..2599,2633..2638, 2693..2695,2708..2710,2726..2731,2768..2770,2819..2821, 2834..2836,2852..2857,2930..2935,2987..2989,2999..3001, 3014..3019,3053..3058,3107..3109,3122..3124,3140..3145) /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="structural tetrad; other site" /db_xref="CDD:29257" misc_feature 2873..4144 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="FOG: WD40 repeat [General function prediction only]; Region: COG2319" /db_xref="CDD:32473" misc_feature 3296..4117 /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from...; Region: WD40; cd00200" /db_xref="CDD:29257" misc_feature order(3347..3349,3359..3361,3377..3382,3416..3421, 3473..3475,3485..3487,3503..3508,3539..3544,3593..3595, 3605..3607,3623..3628,3665..3667,3716..3718,3731..3733, 3749..3754,3788..3793,3845..3847,3857..3859,3875..3880, 3914..3916,3941..3943,3992..3994,4019..4024,4058..4063, 4115..4117) /gene="APAF1" /gene_synonym="APAF-1; CED4" /note="structural tetrad; other site" /db_xref="CDD:29257" variation 615 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:373035647" variation 635 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:368174559" variation 648 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:150457288" variation 686 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:372259373" variation 711 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:145226502" variation 713 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:199944569" exon 716..872 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 757 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:200621810" variation 784 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:202065446" variation 793 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:373040331" variation 804 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:376597105" variation 848 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:139951279" variation 851 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:141352935" variation 864 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:150823984" exon 873..1070 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 883 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:139274870" variation 909 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:150005477" variation 927 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:147700706" variation 975 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:200533513" variation 1002 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:377171914" variation 1021 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:370625919" variation 1022 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:76680641" variation 1043 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:113035658" variation 1054 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:144787055" variation 1059 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:147932236" exon 1071..1254 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 1092 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:200830441" variation 1103 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:370928764" variation 1117 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:143842243" variation 1145 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:374500915" variation 1156 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:151139898" variation 1195 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:146505676" variation 1242 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:141157255" variation 1247 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:368744142" exon 1255..1367 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 1325 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:145270473" variation 1349 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:199783677" variation 1351 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:111885484" exon 1368..1499 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 1403 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="g" /db_xref="dbSNP:144728788" variation 1408 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:138616141" variation 1442 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:201562861" variation 1454 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:149321598" variation 1455 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:189237320" variation 1481 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:192898520" variation 1491 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:369909924" exon 1500..1738 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 1516 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:144643655" variation 1537 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:199648389" variation 1621 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:57171247" variation 1639 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:201932795" variation 1670 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:141824871" variation 1677 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:201629052" exon 1739..1906 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 1744 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:368597507" variation 1745 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:371118366" variation 1792 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:147249307" variation 1803 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:140772800" variation 1818..1819 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="" /replace="c" /db_xref="dbSNP:34602753" variation 1840 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:374998401" variation 1844 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:368429786" variation 1845 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:201872620" variation 1871 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:144721573" variation 1880 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:75622772" variation 1882 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:376806366" variation 1894 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="g" /db_xref="dbSNP:139378273" variation 1901 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:371633206" variation 1905 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:150056794" exon 1907..2038 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 1938 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:76732147" variation 1953 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:145393515" variation 1968 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:369544125" variation 1980 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:373209321" variation 1981 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="g" /db_xref="dbSNP:149223130" variation 2025 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:143963802" exon 2039..2152 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 2106 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:146424586" exon 2153..2337 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 2174 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:372400613" variation 2183 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:376175905" variation 2219 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:202243082" variation 2283 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:11613534" variation 2298 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:199975148" variation 2308 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:371417225" variation 2325 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:61758870" exon 2338..2464 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 2356 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:144715006" variation 2378 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:371897242" variation 2379 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:375182344" variation 2400 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:61758871" variation 2418 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:73142307" variation 2419 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:369089258" variation 2463 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:140327382" exon 2465..2590 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 2539 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:372738633" exon 2591..2722 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 2591 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:200295459" variation 2617 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:376958146" variation 2652 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:375497407" variation 2674 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:111760682" exon 2723..2848 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 2732 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:371871697" variation 2745 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:371385003" variation 2750 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:150355642" variation 2760 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:138068283" variation 2778 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:372234984" variation 2818 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:200562772" exon 2849..3010 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 2860 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:368374940" variation 2873 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:138526583" variation 2889 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:117235991" variation 2927 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="g" /db_xref="dbSNP:181546874" variation 2942 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:139083690" variation 2944 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:372032284" variation 2958 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:375207439" variation 2959 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:202216630" variation 2965 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:143097832" variation 3007 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:144749677" exon 3011..3136 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 3027 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:145807191" variation 3030 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:139940389" variation 3096 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:61757705" variation 3107 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:199525775" exon 3137..3256 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 3249 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:146420669" exon 3257..3373 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 3267 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:201911170" variation 3276 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:140836008" variation 3277 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:143246247" variation 3346 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:145497334" variation 3367 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:148854272" exon 3374..3499 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 3393 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:201541593" variation 3420 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:201122276" variation 3422 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:367942061" variation 3466 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:143528358" variation 3482 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:372125027" variation 3489 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:77127123" exon 3500..3619 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 3514 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:142269091" variation 3527 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:146238655" variation 3536 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:139016212" exon 3620..3745 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 3649 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:143961269" variation 3700 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:139786967" exon 3746..3871 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 3762 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:138188210" variation 3839 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:201678092" variation 3847 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:149589840" exon 3872..4015 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 3889 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:144336881" variation 3893 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:184890158" variation 3916 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:368589663" variation 3943 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:140151475" exon 4016..7029 /gene="APAF1" /gene_synonym="APAF-1; CED4" /inference="alignment:Splign:1.39.8" variation 4063 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:201917086" variation 4088 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:201029707" variation 4093 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:369751053" variation 4097 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="g" /db_xref="dbSNP:142230441" variation 4111 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:372861046" variation 4138 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:375449857" variation 4155 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:369724536" variation 4165 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:118102803" variation 4166 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:375966404" variation 4368 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:147973432" variation 4449 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:17227606" variation 4497 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:376693352" variation 4530 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:370287396" variation 4588 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:115805629" variation 4628 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:187945549" variation 4728 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:116884285" variation 4729 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:368133650" variation 4755..4756 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="" /replace="ag" /db_xref="dbSNP:376965258" STS 4772..4874 /gene="APAF1" /gene_synonym="APAF-1; CED4" /standard_name="D11S2921" /db_xref="UniSTS:152074" STS 4779..5166 /gene="APAF1" /gene_synonym="APAF-1; CED4" /standard_name="PMC156606P1" /db_xref="UniSTS:271408" STS 4779..4868 /gene="APAF1" /gene_synonym="APAF-1; CED4" /standard_name="PMC156606P1" /db_xref="UniSTS:271408" variation 4799 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:372020077" variation 4818 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:111382335" STS 4834..4920 /gene="APAF1" /gene_synonym="APAF-1; CED4" /standard_name="D8S2279" /db_xref="UniSTS:473907" variation 4840 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:192421145" variation 4856 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:185285999" STS 4861..5234 /gene="APAF1" /gene_synonym="APAF-1; CED4" /standard_name="GDB:313557" /db_xref="UniSTS:8230" variation 4919 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:12307986" variation 4949 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="g" /db_xref="dbSNP:187456676" STS 4983..5288 /gene="APAF1" /gene_synonym="APAF-1; CED4" /standard_name="GDB:434012" /db_xref="UniSTS:157204" STS 4983..5152 /gene="APAF1" /gene_synonym="APAF-1; CED4" /standard_name="GDB:434012" /db_xref="UniSTS:157204" variation 4993 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /db_xref="dbSNP:4450213" STS 4996..5259 /gene="APAF1" /gene_synonym="APAF-1; CED4" /standard_name="L17791" /db_xref="UniSTS:42740" variation 5048 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:375602833" variation 5065 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:188204280" variation 5070 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:140030216" variation 5143 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:192992501" variation 5168 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:1131019" variation 5175 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:143208155" variation 5249 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:12829605" variation 5281 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:184748337" variation 5334 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:188259081" variation 5347 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:180779783" variation 5514 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="" /replace="a" /db_xref="dbSNP:11296996" variation 5577 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:139964896" variation 5632 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:145416277" variation 5650 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:183510672" variation 5819..5820 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="" /replace="at" /db_xref="dbSNP:374060808" variation 5819 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:6538881" variation 5820 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:6538882" variation 5846 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:187010424" variation 5876 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:191552272" variation 5891..5892 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="" /replace="g" /db_xref="dbSNP:35746294" variation 5920 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:145263832" variation 6003 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:142293344" variation 6060 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:151008594" variation 6084 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="g" /db_xref="dbSNP:111495253" variation 6110 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:181602728" variation 6138 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:140896989" variation 6175 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:73142318" variation 6518..6519 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="" /replace="tt" /db_xref="dbSNP:371739358" variation 6539 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:60760345" variation 6589 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:1131020" variation 6610 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:1131021" variation 6690 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:116928965" STS 6760..6920 /gene="APAF1" /gene_synonym="APAF-1; CED4" /standard_name="RH69665" /db_xref="UniSTS:12332" variation 6789 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="g" /replace="t" /db_xref="dbSNP:186272491" variation 6807 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="g" /db_xref="dbSNP:116289685" variation 6837..6838 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="" /replace="t" /db_xref="dbSNP:201081099" variation 6840 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="t" /db_xref="dbSNP:12159" variation 6844 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="" /replace="t" /db_xref="dbSNP:3834481" variation 6878 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:113354620" polyA_signal 6999..7004 /gene="APAF1" /gene_synonym="APAF-1; CED4" variation 7015 /gene="APAF1" /gene_synonym="APAF-1; CED4" /replace="c" /replace="t" /db_xref="dbSNP:140352209" polyA_site 7029 /gene="APAF1" /gene_synonym="APAF-1; CED4" ORIGIN
aagaagaggtagcgagtggacgtgactgctctatcccgggcaaaagggatagaaccagaggtggggagtctgggcagtcggcgacccgcgaagacttgaggtgccgcagcggcatccggagtagcgccgggctccctccggggtgcagccgccgtcgggggaagggcgccacaggccgggaagacctcctccctttgtgtccagtagtggggtccaccggagggcggcccgtgggccgggcctcaccgcggcgctccgggactgtggggtcaggctgcgttgggtggacgcccacctcgccaaccttcggaggtccctgggggtcttcgtgcgccccggggctgcagagatccaggggaggcgcctgtgaggcccggacctgccccggggcgaagggtatgtggcgagacagagccctgcacccctaattcccggtggaaaactcctgttgccgtttccctccaccggcctggagtctcccagtcttgtcccggcagtgccgccctccccactaagacctaggcgcaaaggcttggctcatggttgacagctcagagagagaaagatctgagggaagatggatgcaaaagctcgaaattgtttgcttcaacatagagaagctctggaaaaggacatcaagacatcctacatcatggatcacatgattagtgatggatttttaacaatatcagaagaggaaaaagtaagaaatgagcccactcaacagcaaagagcagctatgctgattaaaatgatacttaaaaaagataatgattcctacgtatcattctacaatgctctactacatgaaggatataaagatcttgctgcccttctccatgatggcattcctgttgtctcttcttccagtgtaaggacagtcctgtgtgaaggtggagtaccacagaggccagttgtttttgtcacaaggaagaagctggtgaatgcaattcagcagaagctctccaaattgaaaggtgaaccaggatgggtcaccatacatggaatggcaggctgtgggaagtctgtattagctgcagaagctgttagagatcattcccttttagaaggttgtttcccagggggagtgcattgggtttcagttgggaaacaagacaaatctgggcttctgatgaaactgcagaatctttgcacacggttggatcaggatgagagtttttcccagaggcttccacttaatattgaagaggctaaagaccgtctccgcattctgatgcttcgcaaacacccaaggtctctcttgatcttggatgatgtttgggactcttgggtgttgaaagcttttgacagtcagtgtcagattcttcttacaaccagagacaagagtgttacagattcagtaatgggtcctaaatatgtagtccctgtggagagttccttaggaaaggaaaaaggacttgaaattttatccctttttgttaatatgaagaaggcagatttgccagaacaagctcatagtattataaaagaatgtaaaggctctccccttgtagtatctttaattggtgcacttttacgtgattttcccaatcgctgggagtactacctcaaacagcttcagaataagcagtttaagagaataaggaaatcttcgtcttatgattatgaggctctagatgaagccatgtctataagtgttgaaatgctcagagaagacatcaaagattattacacagatctttccatccttcagaaggacgttaaggtgcctacaaaggtgttatgtattctctgggacatggaaactgaagaagttgaagacatactgcaggagtttgtaaataagtctcttttattctgtgatcggaatggaaagtcgtttcgttattatttacatgatcttcaagtagattttcttacagagaagaattgcagccagcttcaggatctacataagaagataatcactcagtttcagagatatcaccagccgcatactctttcaccagatcaggaagactgtatgtattggtacaactttctggcctatcacatggccagtgccaagatgcacaaggaactttgtgctttaatgttttccctggattggattaaagcaaaaacagaacttgtaggccctgctcatctgattcatgaatttgtggaatacagacatatactagatgaaaaggattgtgcagtcagtgagaattttcaggagtttttatctttaaatggacaccttcttggacgacagccatttcctaatattgtacaactgggtctctgtgagccggaaacttcagaagtttatcagcaagctaagctgcaggccaagcaggaggtcgataatggaatgctttacctggaatggataaacaaaaaaaacatcacgaatctttcccgcttagttgtccgcccccacacagatgctgtttaccatgcctgcttttctgaggatggtcagagaatagcttcttgtggagctgataaaaccttacaggtgttcaaagctgaaacaggagagaaacttctagaaatcaaggctcatgaggatgaagtgctttgttgtgcattctctacagatgacagatttatagcaacctgctcagtggataaaaaagtgaagatttggaattctatgactggggaactagtacacacctatgatgagcactcagagcaagtcaattgctgccatttcaccaacagtagtcatcatcttctcttagccactgggtcaagtgactgcttcctcaaactttgggatttgaatcaaaaagaatgtcgaaataccatgtttggtcatacaaattcagtcaatcactgcagattttcaccagatgataagcttttggctagttgttcagctgatggaaccttaaagctttgggatgcgacatcagcaaatgagaggaaaagcattaatgtgaaacagttcttcctaaatttggaggaccctcaagaggatatggaagtgatagtgaagtgttgttcgtggtctgctgatggtgcaaggataatggtggcagcaaaaaataaaatctttttgtggaatacagactcacgttcaaaggtggctgattgcagaggacatttaagttgggttcatggtgtgatgttttctcctgatggatcatcatttttgacatcttctgatgaccagacaatcaggctctgggagacaaagaaagtatgtaagaactctgctgtaatgttaaagcaagaagtagatgttgtgtttcaagaaaatgaagtgatggtccttgcagttgaccatataagacgtctgcaactcattaatggaagaacaggtcagattgattatctgactgaagctcaagttagctgctgttgcttaagtccacatcttcagtacattgcatttggagatgaaaatggagccattgagattttagaacttgtaaacaatagaatcttccagtccaggtttcagcacaagaaaactgtatggcacatccagttcacagccgatgagaagactcttatttcaagttctgatgatgctgaaattcaggtatggaattggcaattggacaaatgtatctttctacgaggccatcaggaaacagtgaaagactttagactcttgaaaaattcaagactgctttcttggtcatttgatggaacagtgaaggtatggaatattattactggaaataaagaaaaagactttgtctgtcaccagggtacagtactttcttgtgacatttctcacgatgctaccaagttttcatctacctctgctgacaagactgcaaagatctggagttttgatctccttttgccacttcatgaattgaggggccacaacggctgtgtgcgctgctctgccttctctgtggacagtaccctgctggcaacgggagatgacaatggagaaatcaggatatggaatgtctcaaacggtgagcttcttcatttgtgtgctccgctttcagaagaaggagctgctacccatggaggctgggtgactgacctttgcttttctccagatggcaaaatgcttatctctgctggaggatatattaagtggtggaacgttgtcactggggaatcctcacagaccttctacacaaatggaaccaatcttaagaaaatacacgtgtcccctgacttcaaaacatatgtgactgtggataatcttggtattttatatattttacagactttagaataaaatagttaagcattaatgtagttgaactttttaaatttttgaattggaaaaaaattctaatgaaaccctgatatcaactttttataaagctcttaattgttgtgcagtattgcattcattacaaaagtgtttgtggttggatgaataatattaatgtagctttttcccaaatgaacatacctttaatcttgtttttcatgatcatcattaacagtttgtccttaggatgcaaatgaaaatgtgaatacataccttgttgtactgttggtaaaattctgtcttgatgcattcaaaatggttgacataattaatgagaagaatttggaagaaattggtattttaatactgtctgtatttattactgttatgcaggctgtgcctcagggtagcagtggcctgctttttgaaccacacttaccccaagggggttttgttctcctaaatacaatcttagaggttttttgcactctttaaatttgctttaaaaatattgtgtctgtgtgcatagtctgcagcatttcctttaattgactcaataagtgagtcttggatttagcaggcccccccaccttttttttttgtttttggagacagagtcttgctttgttgccaggctggagtgcagtggcgcgatctcggctcaccacaatcgctgcctcctgggttcaagcaattctcctgcctcagcctcccgagtagctgggactacaggtgtgcgcacatgccaggctaatttttgtatttttagtagagacggggtttcaccatgttggccgggatggtctcgatctcttgacctcatgatctacccgccttggcctcccaaagtgctgagattacaggcgtgagccaccgtgcctggccaggccccttctcttttaatggagacagggtcttgcactatcacccaggctggagtgcagtggcataatcatacctcattgcagcctcagactcctgggttcaagcaatcctcctgcctcagcctcccaagtagctgagactacaggcacgagccaccacacccagctaatttttaagttttcttgtagagacagggtctcactatgttgtctaggctggtcttgaactcttggcctcaagtaatcctcctgcctcagcctcccaaagtgttgggattgcagatatgagccactggcctggccttcagcagttctttttgtgaagtaaaacttgtatgttggaaagagtagattttattggtctacccttttctcactgtagctgctggcagccctgtgccatatctggactctagttgtcagtatctgagttggacactattcctgctccctcttgtttcttacatatcagacttcttacttgaatgaaacctgatctttcctaatcctcacttttttcttttttaaaaagcagtttctccactgctaaatgttagtcattgaggtggggccaattttaatcataagccttaataagatttttctaagaaatgtgaaatagaacaattttcatctaattccatttacttttagatgaatggcattgtgaatgccattcttttaatgaatttcaagagaattctctggttttctgtgtaattccagatgagtcactgtaactctagaagattaaccttccagccaacctattttcctttcccttgtctctctcatcctcttttccttccttctttcctttctcttcttttatctccaaggttaatcaggaaaaatagcttttgacaggggaaaaaactcaataactagctatttttgacctcctgatcaggaactttagttgaagcgtaaatctaaagaaacattttctctgaaatatattattaagggcaatggagataaattaatagtagatgtggttcccagaaaatataatcaaaattcaaagattttttttgtttctgtaactggaactaaatcaaatgattactagtgttaatagtagataacttgtttttattgttggtgcatattagtataactgtggggtaggtcggggagagggtaagggaatagatcactcagatgtattttagataagctatttagcctttgatggaatcataaatacagtgaatacaatcctttgcattgttaaggaggttttttgtttttaaatggtgggtcaaggagctagtttacaggcttactgtgatttaagcaaatgtgaaaagtgaaaccttaattttatcaaaagaaatttctgtaaatggtatgtctccttagaatacccaaatcataattttatttgtacacactgttaggggctcatctcatgtaggcagagtataaagtattaccttttggaattaaaagccactgactgttataaagtataacaacacacatcaggttttaaaaagccttgaatggcccttgtcttaaaaagaaattaggagccaggtgcggtggcacgtgcctgtaatcccagctccttgggaggctaagacaggaggattccttgagccctggagtttgagtccagcctgggtgacatagcaagaccctgtcttaaaagaaaaatgggaagaaagacaaggtaacatgaagaaagaagagatacctagtatgatggagctgcaaatttcatggcagttcatgcagtcggtcaagaggaggattttgttttgtagtttgcagatgagcatttctaaagcattttcccttgctgtatttttttgtattataaattacattggacttcatatatataatttttttttacattatatgtctcttgtatgttttgaaactcttgtatttatgatatagcttatatgatttttttgccttggtatacattttaaaatatgaatttaaaaaatttttgtaaaaataaaattcacaaaattgttttgaaaaacaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:317 -> Molecular function: GO:0000166 [nucleotide binding] evidence: TAS GeneID:317 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:317 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA GeneID:317 -> Molecular function: GO:0008656 [cysteine-type endopeptidase activator activity involved in apoptotic process] evidence: NAS GeneID:317 -> Molecular function: GO:0042802 [identical protein binding] evidence: IEA GeneID:317 -> Molecular function: GO:0043531 [ADP binding] evidence: IEA GeneID:317 -> Biological process: GO:0001843 [neural tube closure] evidence: IEA GeneID:317 -> Biological process: GO:0006309 [apoptotic DNA fragmentation] evidence: IEA GeneID:317 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:317 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: IDA GeneID:317 -> Biological process: GO:0006952 [defense response] evidence: IEA GeneID:317 -> Biological process: GO:0007399 [nervous system development] evidence: TAS GeneID:317 -> Biological process: GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] evidence: IDA GeneID:317 -> Biological process: GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] evidence: TAS GeneID:317 -> Biological process: GO:0030900 [forebrain development] evidence: IEA GeneID:317 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:317 -> Biological process: GO:0051402 [neuron apoptotic process] evidence: IEA GeneID:317 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS GeneID:317 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:317 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:317 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:317 -> Cellular component: GO:0005794 [Golgi apparatus] evidence: IDA GeneID:317 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:317 -> Cellular component: GO:0043293 [apoptosome] evidence: IDA GeneID:317 -> Cellular component: GO:0043293 [apoptosome] evidence: TAS
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