2024-04-19 17:42:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_012291 6641 bp mRNA linear PRI 05-MAY-2013 DEFINITION Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA. ACCESSION NM_012291 VERSION NM_012291.4 GI:134276942 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 6641) AUTHORS Shindo,N., Kumada,K. and Hirota,T. TITLE Separase sensor reveals dual roles for separase coordinating cohesin cleavage and cdk1 inhibition JOURNAL Dev. Cell 23 (1), 112-123 (2012) PUBMED 22814604 REMARK GeneRIF: By consecutively acting as a protease and a cdk1 inhibitor, separase coordinates two key processes to achieve simultaneous and abrupt separation of sister chromatids. REFERENCE 2 (bases 1 to 6641) AUTHORS Matsuo,K., Ohsumi,K., Iwabuchi,M., Kawamata,T., Ono,Y. and Takahashi,M. TITLE Kendrin is a novel substrate for separase involved in the licensing of centriole duplication JOURNAL Curr. Biol. 22 (10), 915-921 (2012) PUBMED 22542101 REMARK GeneRIF: Kendrin is a novel and crucial substrate for separase (ESPL1) at the centrosome, protecting the engaged centrioles from premature disengagement and thereby blocking reduplication until the cell passes through mitosis. REFERENCE 3 (bases 1 to 6641) AUTHORS Bacac,M., Fusco,C., Planche,A., Santodomingo,J., Demaurex,N., Leemann-Zakaryan,R., Provero,P. and Stamenkovic,I. TITLE Securin and separase modulate membrane traffic by affecting endosomal acidification JOURNAL Traffic 12 (5), 615-626 (2011) PUBMED 21272169 REMARK GeneRIF: Results identify a new functional role of securin and separase in the modulation of membrane traffic and protein secretion that implicates regulation of V-ATPase assembly and function. REFERENCE 4 (bases 1 to 6641) AUTHORS Yim,H. and Erikson,R.L. TITLE Cell division cycle 6, a mitotic substrate of polo-like kinase 1, regulates chromosomal segregation mediated by cyclin-dependent kinase 1 and separase JOURNAL Proc. Natl. Acad. Sci. U.S.A. 107 (46), 19742-19747 (2010) PUBMED 21041660 REMARK GeneRIF: Plk1-mediated phosphorylation of Cdc6 promotes the interaction of Cdc6 and Cdk1, leading to the attenuation of Cdk1 activity, release of separase, and subsequent anaphase progression. REFERENCE 5 (bases 1 to 6641) AUTHORS Li,Z.T., Wang,W., Zhao,Y., Wang,L.X., Zhu,H.S., Wu,W.D. and Wu,Y.M. TITLE [Change of structural maintenance of chromosome (SMC)1, SMC3, Separase and Securin expression in BEAS-2B malignant transformation cell induced by coal tar pitch smoke extracts] JOURNAL Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 28 (10), 776-780 (2010) PUBMED 21126432 REMARK GeneRIF: SMC3 and separase are upregulated and securin is downregulated in malignant transformation of BEAS-2B cells induced by coal tar pitch smoke extracts. REFERENCE 6 (bases 1 to 6641) AUTHORS Waizenegger,I., Gimenez-Abian,J.F., Wernic,D. and Peters,J.M. TITLE Regulation of human separase by securin binding and autocleavage JOURNAL Curr. Biol. 12 (16), 1368-1378 (2002) PUBMED 12194817 REMARK GeneRIF: Data suggest that separase is required for sister chromatid separation during mitosis in human cells, and that securin inhibits separase by blocking the access of substrates to the active site of separase. REFERENCE 7 (bases 1 to 6641) AUTHORS Chen,F., Kamradt,M., Mulcahy,M., Byun,Y., Xu,H., McKay,M.J. and Cryns,V.L. TITLE Caspase proteolysis of the cohesin component RAD21 promotes apoptosis JOURNAL J. Biol. Chem. 277 (19), 16775-16781 (2002) PUBMED 11875078 REFERENCE 8 (bases 1 to 6641) AUTHORS Stemmann,O., Zou,H., Gerber,S.A., Gygi,S.P. and Kirschner,M.W. TITLE Dual inhibition of sister chromatid separation at metaphase JOURNAL Cell 107 (6), 715-726 (2001) PUBMED 11747808 REFERENCE 9 (bases 1 to 6641) AUTHORS Hauf,S., Waizenegger,I.C. and Peters,J.M. TITLE Cohesin cleavage by separase required for anaphase and cytokinesis in human cells JOURNAL Science 293 (5533), 1320-1323 (2001) PUBMED 11509732 REFERENCE 10 (bases 1 to 6641) AUTHORS Zou,H., McGarry,T.J., Bernal,T. and Kirschner,M.W. TITLE Identification of a vertebrate sister-chromatid separation inhibitor involved in transformation and tumorigenesis JOURNAL Science 285 (5426), 418-422 (1999) PUBMED 10411507 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BP244662.1, AC021072.27, AY455930.1, AC073611.29 and AI458447.1. On Mar 29, 2007 this sequence version replaced gi:39652623. Summary: Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. 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## CDS exon combination :: AY455930.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-164 BP244662.1 1-164 165-165 AC021072.27 7401-7401 c 166-561 BP244662.1 166-561 562-2169 AY455930.1 471-2078 2170-2170 AC073611.29 2985-2985 2171-4075 AY455930.1 2080-3984 4076-4076 AC073611.29 12485-12485 4077-4772 AY455930.1 3986-4681 4773-4773 AC073611.29 14437-14437 4774-6200 AY455930.1 4683-6109 6201-6641 AI458447.1 1-441 c FEATURES Location/Qualifiers source 1..6641 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q" gene 1..6641 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /note="extra spindle pole bodies homolog 1 (S. cerevisiae)" /db_xref="GeneID:9700" /db_xref="HGNC:16856" /db_xref="MIM:604143" exon 1..79 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 15 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="t" /db_xref="dbSNP:6580940" variation 24 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:142816805" misc_feature 41..43 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /note="upstream in-frame stop codon" variation 78 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:112250862" exon 80..172 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" CDS 92..6454 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /EC_number="3.4.22.49" /note="caspase-like protein ESPL1; extra spindle poles-like 1 protein; extra spindle poles like 1; separin, cysteine protease" /codon_start=1 /product="separin" /protein_id="NP_036423.4" /db_xref="GI:134276943" /db_xref="CCDS:CCDS8852.1" /db_xref="GeneID:9700" /db_xref="HGNC:16856" /db_xref="MIM:604143" /translation="
MRSFKRVNFGTLLSSQKEAEELLPALKEFLSNPPAGFPSSRSDAERRQACDAILRACNQQLTAKLACPRHLGSLLELAELACDGYLVSTPQRPPLYLERILFVLLRNAAAQGSPEATLRLAQPLHACLVQCSREAAPQDYEAVARGSFSLLWKGAEALLERRAAFAARLKALSFLVLLEDESTPCEVPHFASPTACRAVAAHQLFDASGHGLNEADADFLDDLLSRHVIRALVGERGSSSGLLSPQRALCLLELTLEHCRRFCWSRHHDKAISAVEKAHSYLRNTNLAPSLQLCQLGVKLLQVGEEGPQAVAKLLIKASAVLSKSMEAPSPPLRALYESCQFFLSGLERGTKRRYRLDAILSLFAFLGGYCSLLQQLRDDGVYGGSSKQQQSFLQMYFQGLHLYTVVVYDFAQGCQIVDLADLTQLVDSCKSTVVWMLEALEGLSGQELTDHMGMTASYTSNLAYSFYSHKLYAEACAISEPLCQHLGLVKPGTYPEVPPEKLHRCFRLQVESLKKLGKQAQGCKMVILWLAALQPCSPEHMAEPVTFWVRVKMDAARAGDKELQLKTLRDSLSGWDPETLALLLREELQAYKAVRADTGQERFNIICDLLELSPEETPAGAWARATHLVELAQVLCYHDFTQQTNCSALDAIREALQLLDSVRPEAQARDQLLDDKAQALLWLYICTLEAKMQEGIERDRRAQAPGNLEEFEVNDLNYEDKLQEDRFLYSNIAFNLAADAAQSKCLDQALALWKELLTKGQAPAVRCLQQTAASLQILAALYQLVAKPMQALEVLLLLRIVSERLKDHSKAAGSSCHITQLLLTLGCPSYAQLHLEEAASSLKHLDQTTDTYLLLSLTCDLLRSQLYWTHQKVTKGVSLLLSVLRDPALQKSSKAWYLLRVQVLQLVAAYLSLPSNNLSHSLWEQLCAQGWQTPEIALIDSHKLLRSIILLLMGSDILSTQKAAVETSFLDYGENLVQKWQVLSEVLSCSEKLVCHLGRLGSVSEAKAFCLEALKLTTKLQIPRQCALFLVLKGELELARNDIDLCQSDLQQVLFLLESCTEFGGVTQHLDSVKKVHLQKGKQQAQVPCPPQLPEEELFLRGPALELVATVAKEPGPIAPSTNSSPVLKTKPQPIPNFLSHSPTCDCSLCASPVLTAVCLRWVLVTAGVRLAMGHQAQGLDLLQVVLKGCPEAAERLTQALQASLNHKTPPSLVPSLLDEILAQAYTLLALEGLNQPSNESLQKVLQSGLKFVAARIPHLEPWRASLLLIWALTKLGGLSCCTTQLFASSWGWQPPLIKSVPGSEPSKTQGQKRSGRGRQKLASAPLRLNNTSQKGLEGRGLPCTPKPPDRIRQAGPHVPFTVFEEVCPTESKPEVPQAPRVQQRVQTRLKVNFSDDSDLEDPVSAEAWLAEEPKRRGTASRGRGRARKGLSLKTDAVVAPGSAPGNPGLNGRSRRAKKVASRHCEERRPQRASDQARPGPEIMRTIPEEELTDNWRKMSFEILRGSDGEDSASGGKTPAPGPEAASGEWELLRLDSSKKKLPSPCPDKESDKDLGPRLRLPSAPVATGLSTLDSICDSLSVAFRGISHCPPSGLYAHLCRFLALCLGHRDPYATAFLVTESVSITCRHQLLTHLHRQLSKAQKHRGSLEIADQLQGLSLQEMPGDVPLARIQRLFSFRALESGHFPQPEKESFQERLALIPSGVTVCVLALATLQPGTVGNTLLLTRLEKDSPPVSVQIPTGQNKLHLRSVLNEFDAIQKAQKENSSCTDKREWWTGRLALDHRMEVLIASLEKSVLGCWKGLLLPSSEEPGPAQEASRLQELLQDCGWKYPDRTLLKIMLSGAGALTPQDIQALAYGLCPTQPERAQELLNEAVGRLQGLTVPSNSHLVLVLDKDLQKLPWESMPSLQALPVTRLPSFRFLLSYSIIKEYGASPVLSQGVDPRSTFYVLNPHNNLSSTEEQFRANFSSEAGWRGVVGEVPRPEQVQEALTKHDLYIYAGHGAGARFLDGQAVLRLSCRAVALLFGCSSAALAVRGNLEGAGIVLKYIMAGCPLFLGNLWDVTDRDIDRYTEALLQGWLGAGPGAPLLYYVNQARQAPRLKYLIGAAPIAYGLPVSLR
" misc_feature 1064..1066 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 3467..3469 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q14674.3); phosphorylation site" misc_feature 4277..4279 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q14674.3); phosphorylation site" misc_feature 4286..4288 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q14674.3); phosphorylation site" misc_feature 4547..4549 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" misc_feature 4607..4612 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="Cleavage, by autolysis; propagated from UniProtKB/Swiss-Prot (Q14674.3); cleavage site" misc_feature 4607..4609 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" misc_feature 4613..4615 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q14674.3); phosphorylation site" misc_feature 4613..4615 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 4694..4699 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="Cleavage, by autolysis; propagated from UniProtKB/Swiss-Prot (Q14674.3); cleavage site" misc_feature 4694..4696 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" misc_feature 5237..6298 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /note="Peptidase family C50; Region: Peptidase_C50; pfam03568" /db_xref="CDD:202687" variation 118 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:142528308" variation 125 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:145977146" variation 165 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:6580942" exon 173..1234 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 178 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:139777651" variation 207 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:141171220" variation 319 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:374757860" variation 329 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:150717889" variation 438 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:2364600" variation 468 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:369432202" variation 488 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:367795450" variation 489 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:371445719" variation 505 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:376027070" variation 517 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:369308881" variation 518 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:199588886" variation 529 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:369839546" variation 566 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:140112349" variation 572 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:145536592" variation 576..577 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="" /replace="a" /db_xref="dbSNP:34918623" variation 588 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:373529010" variation 671 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:199689724" variation 685 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:147703740" variation 773 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:375659071" variation 798 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:113504178" variation 814 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:373327040" variation 816 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:182525960" variation 825 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:369031882" variation 869 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:142300200" variation 887 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:372670255" variation 893 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:151249872" variation 895 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:377108737" variation 954 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:201681571" variation 970 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:185086672" variation 994 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:370617883" variation 999 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:140429726" variation 1018 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:377512325" variation 1031 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:375648442" variation 1054 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:200510757" variation 1123 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:200045476" variation 1152 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:377669347" variation 1211 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:374438789" exon 1235..1339 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 1321 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:368582001" variation 1330 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:368185718" exon 1340..1460 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 1372 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:141048890" variation 1390 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:149663100" variation 1425 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:371969495" variation 1441 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:181249188" variation 1449 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:144769405" exon 1461..1597 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 1474 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:369385641" variation 1482 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:148372321" variation 1487 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:140453459" variation 1501 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:373919065" variation 1580 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:201452936" variation 1582 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:138556813" exon 1598..1791 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 1668 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:200381228" variation 1678 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:377436215" variation 1703 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:371221962" exon 1792..2031 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 1821 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:200635387" variation 1824 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:149272357" variation 1825 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:144474323" variation 1839 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="t" /db_xref="dbSNP:200043098" variation 1873 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:147987096" variation 1878 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:143192971" variation 1883 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:147544896" variation 1903 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:140179562" variation 1933 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:1318648" variation 1951 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:61760168" variation 2017 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:199988679" exon 2032..2176 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 2116 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:144067650" variation 2141 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:146446613" variation 2161 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:370405626" variation 2168 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:149801859" variation 2170 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:17125266" variation 2171 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:78589208" variation 2172 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:148936970" variation 2176 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:368828501" exon 2177..2315 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 2177 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:373329819" variation 2186 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:376714329" variation 2187 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:34424268" variation 2193 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:146530110" variation 2261 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:141112607" variation 2265 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:369221056" exon 2316..2455 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 2316 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:190417568" variation 2346 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:201534978" variation 2362 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:144835082" variation 2374 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:149815657" exon 2456..2590 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 2502 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:201664942" variation 2526 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:373744832" variation 2543 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:140262036" variation 2590 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:150330971" exon 2591..2710 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 2599 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:368466381" variation 2611 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:137974152" variation 2614 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:143458983" variation 2675 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:12367362" variation 2692 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:147138995" exon 2711..2882 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 2732 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:138600534" variation 2810 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:376690308" variation 2844 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:73309511" exon 2883..3011 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 2964 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:182921952" variation 2968 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:75893829" variation 2998 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:115860198" variation 3010 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:200674938" exon 3012..3168 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 3049 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:148254772" variation 3064 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:186239817" variation 3104 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:199991198" exon 3169..3278 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 3196 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:200962229" variation 3238 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:148775541" variation 3269 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:370401595" variation 3276 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:201164932" exon 3279..4267 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" STS 3314..3532 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /standard_name="RH45441" /db_xref="UniSTS:56851" variation 3323 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:139523603" variation 3324 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:139302714" variation 3341 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:202160500" variation 3355 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:375195046" variation 3359 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:4759306" variation 3363 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:144237775" variation 3365 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:368502607" variation 3373 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:372973984" variation 3380 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:201215189" variation 3382 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:34100547" variation 3388 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:140003811" variation 3399 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:143501002" variation 3479 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:200584190" variation 3497 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:34130634" variation 3522 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:374347669" variation 3541 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:148885660" variation 3542..3543 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1064218" variation 3545 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:143545932" variation 3560 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:35428211" variation 3576 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:142064942" variation 3582 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:111320105" variation 3591 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:138672959" variation 3607 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:201744934" variation 3623 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:202075440" variation 3626 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:371853647" variation 3652 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:144484136" variation 3673 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:61740151" variation 3674 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:200640004" variation 3706 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:61741367" variation 3739 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:200283132" variation 3748 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:138937167" variation 3791 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:149415525" variation 3802 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:34396464" variation 3806 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:111731199" variation 3812 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:145542764" variation 3830 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:201939448" variation 3850 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:376159356" variation 3860 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:376592855" variation 3920 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:144785442" variation 3946 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:369769998" variation 3973 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:373537189" variation 4016 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:376466564" variation 4020 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:200942440" variation 4039 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:368850407" variation 4044 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:139654136" variation 4049 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:34014450" variation 4057 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:146081392" variation 4076 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:35874650" variation 4083 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:147747325" variation 4101 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:140972771" STS 4104..5091 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /standard_name="D1S3694" /db_xref="UniSTS:474272" variation 4115 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:186027426" variation 4144 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:113736228" variation 4153 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:376362754" variation 4166 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:370889085" variation 4231 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:151232479" variation 4238 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:139197630" variation 4258 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:190584320" variation 4259 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:149944800" exon 4268..4637 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 4287 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:187703318" variation 4334 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="" /replace="c" /db_xref="dbSNP:34131110" variation 4395 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="t" /db_xref="dbSNP:1110719" variation 4398 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:374272838" variation 4405 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:192407973" variation 4449 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:142131425" variation 4457 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:145892138" variation 4458 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:147791357" variation 4475 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:61752572" variation 4484 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:143441853" variation 4496 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:202171821" variation 4499 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:148389327" variation 4501 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="t" /db_xref="dbSNP:141578053" variation 4519 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:373633730" variation 4526 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:142631451" variation 4554 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="t" /db_xref="dbSNP:183442980" variation 4555 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:61737629" variation 4579 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:142928188" variation 4619 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:143177748" variation 4631 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:140072296" exon 4638..4799 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 4642 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:1110720" variation 4656 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:372888910" variation 4657 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:374902885" variation 4707 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:367813096" variation 4710 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:201029363" variation 4773 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:56358776" variation 4781 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:148496956" variation 4788 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:142704739" variation 4793 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:372689298" exon 4800..5013 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 4855 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:371892420" variation 4874 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:375264914" variation 4894 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:191911483" variation 4900 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:145634647" variation 4912 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:3214023" STS 4927..5144 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /standard_name="G64240" /db_xref="UniSTS:166644" variation 4953 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:200442902" exon 5014..5204 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 5019 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:369044987" variation 5048 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:112624761" variation 5103 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:137968545" variation 5106 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:200673617" variation 5144 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:115894086" variation 5176 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:200753222" exon 5205..5332 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 5224 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:199636599" variation 5246 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:372612771" variation 5251 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:140195222" variation 5252 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:149892921" variation 5272 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:375993955" exon 5333..5455 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 5397 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:143994085" variation 5449 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:370250029" exon 5456..5611 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 5483 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:144898798" variation 5503 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:149024421" variation 5530 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:143830681" variation 5601 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:138467141" variation 5606 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:375540909" exon 5612..5782 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 5620 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:375388351" variation 5681 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:368685698" variation 5751 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:141370738" variation 5753 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:371767769" exon 5783..5887 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 5832 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="g" /db_xref="dbSNP:181361598" variation 5842 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:369694566" variation 5855 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:145106971" variation 5864 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:373153518" variation 5881 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:138917869" variation 5883 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:377435563" exon 5888..6003 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 5935 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:141472982" variation 5958 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:370986015" exon 6004..6087 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 6013 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:201137134" variation 6037 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="g" /replace="t" /db_xref="dbSNP:150841515" variation 6056 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:200370234" variation 6057 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:111724509" variation 6065 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:138160247" variation 6073 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:201744986" exon 6088..6252 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 6201 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:1056685" variation 6250 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:147227299" exon 6253..6623 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /inference="alignment:Splign:1.39.8" variation 6256 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:184947855" variation 6291 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:140602543" variation 6292 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:369327696" variation 6309 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:113469395" variation 6310 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:200427483" variation 6384 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:375620823" variation 6388 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="t" /db_xref="dbSNP:370035865" variation 6401 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="t" /db_xref="dbSNP:201705856" variation 6433 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:61929241" variation 6449 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="c" /db_xref="dbSNP:147406279" variation 6455 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:199711854" variation 6479 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:373318470" variation 6566 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="c" /replace="t" /db_xref="dbSNP:146497037" variation 6583 /gene="ESPL1" /gene_synonym="ESP1; SEPA" /replace="a" /replace="g" /db_xref="dbSNP:1056692" polyA_signal 6598..6603 /gene="ESPL1" /gene_synonym="ESP1; SEPA" polyA_site 6623 /gene="ESPL1" /gene_synonym="ESP1; SEPA" ORIGIN
ggttacattttggatcctcgcggagtactggtcaggcggttaagtcctgtacctaggaaagagggcgagctctggggcgctctccggtgtcatgaggagcttcaaaagagtcaactttgggactctgctaagcagccagaaggaggctgaagagttgctgcccgccttgaaggagttcctgtccaaccctccagctggttttcccagcagccgatctgatgctgagaggagacaagcttgtgatgccatcctgagggcttgcaaccagcagctgactgctaagctagcttgccctaggcatctggggagcctgctggagctggcagagctggcctgtgatggctacttagtgtctaccccacagcgtcctcccctctacctggaacgaattctctttgtcttactgcggaatgctgctgcacaaggaagcccagaggccacactccgccttgctcagcccctccatgcctgcttggtgcagtgctctcgcgaggctgctccccaggactatgaggccgtggctcggggcagcttttctctgctttggaagggggcagaagccctgttggaacggcgagctgcatttgcagctcggctgaaggccttgagcttcctagtactcttggaggatgaaagtaccccttgtgaggttcctcactttgcttctccaacagcctgtcgagcggtagctgcccatcagctatttgatgccagtggccatggtctaaatgaagcagatgctgatttcctagatgacctgctctccaggcacgtgatcagagccttggtgggtgagagagggagctcttctgggcttctttctccccagagggccctctgcctcttggagctcaccttggaacactgccgtcgcttttgctggagccgccaccatgacaaagccatcagcgcagtggagaaggctcacagttacctaaggaacaccaatctagcccctagccttcagctatgtcagctgggggttaagctgctgcaggttggggaggaaggacctcaggcagtggccaagcttctgatcaaggcatcagctgtcctgagcaagagtatggaggcaccatcacccccacttcgggcattgtatgagagctgccagttcttcctttcaggcctggaacgaggcaccaagaggcgctatagacttgatgccattctgagcctctttgcttttcttggagggtactgctctcttctgcagcagctgcgggatgatggtgtgtatgggggctcctccaagcaacagcagtcttttcttcagatgtactttcagggacttcacctctacactgtggtggtttatgactttgcccaaggctgtcagatagttgatttggctgacctgacccaactagtggacagttgtaaatctaccgttgtctggatgctggaggccttagagggcctgtcgggccaagagctgacggaccacatggggatgaccgcttcttacaccagtaatttggcctacagcttctatagtcacaagctctatgccgaggcctgtgccatctctgagccgctctgtcagcacctgggtttggtgaagccaggcacttatcccgaggtgcctcctgagaagttgcacaggtgcttccggctacaagtagagagtttgaagaaactgggtaaacaggcccagggctgcaagatggtgattttgtggctggcagccctgcaaccctgtagccctgaacacatggctgagccagtcactttctgggttcgggtcaagatggatgcggccagggctggagacaaggagctacagctaaagactctgcgagacagcctcagtggctgggacccggagaccctggccctcctgctgagggaggagctgcaggcctacaaggcggtgcgggccgacactggacaggaacgcttcaacatcatctgtgacctcctggagctgagccccgaggagacaccagccggggcctgggcacgagccacccacctggtagaactggctcaggtgctctgctaccacgactttacgcagcagaccaactgctctgctctggatgctatccgggaagccctgcagcttctggactctgtgaggcctgaggcccaggccagagatcagcttctggacgataaagcacaggccttgctgtggctttacatctgtactctggaagccaaaatgcaggaaggtatcgagcgggatcggagagcccaggcccctggtaacttggaggaatttgaagtcaatgacctgaactatgaagataaactccaggaagatcgtttcctatacagtaacattgccttcaacctggctgcagatgctgctcagtccaaatgcctggaccaagccctggccctgtggaaggagctgcttacaaaggggcaggccccagctgtacggtgtctccagcagacagcagcctcactgcagatcctagcagccctctaccagctggtggcaaagcccatgcaggctctggaggtcctcctgctgctacggattgtctctgagagactgaaggaccactcgaaggcagctggctcctcctgccacatcacccagctcctcctgaccctcggctgtcccagctatgcccagttacacctggaagaggcagcatcgagcctgaagcatctcgatcagactactgacacatacctgctcctttccctgacctgtgatctgcttcgaagtcaactctactggactcaccagaaggtgaccaagggtgtctctctgctgctgtctgtgcttcgggatcctgccctccagaagtcctccaaggcttggtacttgctgcgtgtccaggtcctgcagctggtggcagcttaccttagcctcccgtcaaacaacctctcacactccctgtgggagcagctctgtgcccaaggctggcagacacctgagatagctctcatagactcccataagctcctccgaagcatcatcctcctgctgatgggcagtgacattctctcaactcagaaagcagctgtggagacatcgtttttggactatggtgaaaatctggtacaaaaatggcaggttctttcagaggtgctgagctgctcagagaagctggtctgccacctgggccgcctgggtagtgtgagtgaagccaaggccttttgcttggaggccctaaaacttacaacaaagctgcagataccacgccagtgtgccctgttcctggtgctgaagggcgagctggagctggcccgcaatgacattgatctctgtcagtcggacctgcagcaggttctgttcttgcttgagtcttgcacagagtttggtggggtgactcagcacctggactctgtgaagaaggtccacctgcagaaggggaagcagcaggcccaggtcccctgtcctccacagctcccagaggaggagctcttcctaagaggccctgctctagagctggtggccactgtggccaaggagcctggccccatagcaccttctacaaactcctccccagtcttgaaaaccaagccccagcccatacccaacttcctgtcccattcacccacctgtgactgctcgctctgcgccagccctgtcctcacagcagtctgtctgcgctgggtattggtcacggcaggggtgaggctggccatgggccaccaagcccagggtctggatctgctgcaggtcgtgctgaagggctgtcctgaagccgctgagcgcctcacccaagctctccaagcttccctgaatcataaaacacccccctccttggttccaagcctcttggatgagatcttggctcaagcatacacactgttggcactggagggcctgaaccagccatcaaacgagagcctgcagaaggttctacagtcagggctgaagtttgtagcagcacggataccccacctagagccctggcgagccagcctgctcttgatttgggccctcacaaaactaggtggcctcagctgctgtactacccaactttttgcaagctcctggggctggcagccaccattaataaaaagtgtccctggctcagagccctctaagactcagggccaaaaacgttctggacgagggcgccaaaagttagcctctgctcccctgcgcctcaataatacctctcagaaaggtctggaaggtagaggactgccctgcacacctaaacccccagaccggatcaggcaagctggccctcatgtccccttcacggtgtttgaggaagtctgccctacagagagcaagcctgaagtaccccaggcccccagggtacaacagagagtccagacgcgcctcaaggtgaacttcagtgatgacagtgacttggaagaccctgtctcagctgaggcctggctggcagaggagcctaagagacggggcactgcttcccggggccgggggcgagcaaggaagggcctgagcctaaagacggatgccgtggttgccccaggtagtgcccctgggaaccctggcctgaatggcaggagccggagggccaagaaggtggcatcaagacattgtgaggagcggcgtccccagagggccagtgaccaggccaggcctggccctgagatcatgaggaccatccctgaggaagaactgactgacaactggagaaaaatgagctttgagatcctcaggggctctgacggggaagactcagcctcaggtgggaagactccagctccgggccctgaggcagcttctggagaatgggagctgctgaggctggattccagcaagaagaagctgcccagcccatgcccagacaaggagagtgacaaggaccttggtcctcggctccggctcccctcagcccccgtagccactggtctttctaccctggactccatctgtgactccctgagtgttgctttccggggcattagtcactgtcctcctagtgggctctatgcccacctctgccgcttcctggccttgtgcctgggccaccgggatccttatgccactgctttccttgtcaccgagtctgtctccatcacctgtcgccaccagctgctcacccacctccacagacagctcagcaaggcccagaagcaccgaggatcacttgaaatagcagaccagctgcaggggctgagccttcaggagatgcctggagatgtccccctggcccgcatccagcgcctcttttccttcagggctttggaatctggccacttcccccagcctgaaaaggagagtttccaggagcgcctggctctgatccccagtggggtgactgtgtgtgtgttggccctggccaccctccagcccggaaccgtgggcaacaccctcctgctgacccggctggaaaaggacagtcccccagtcagtgtgcagattcccactggccagaacaagcttcatctgcgttcagtcctgaatgagtttgatgccatccagaaggcacagaaagagaacagcagctgtactgacaagcgagaatggtggacagggcggctggcactggaccacaggatggaggttctcatcgcttccctagagaagtctgtgctgggctgctggaaggggctgctgctgccgtccagtgaggagcccggccctgcccaggaggcctcccgcctacaggagctgctacaggactgtggctggaaatatcctgaccgcactctgctgaaaatcatgctcagtggtgccggtgccctcacccctcaggacattcaggccctggcctacgggctgtgcccaacccagccagagcgagcccaggagctcctgaatgaggcagtaggacgtctacagggcctgacagtaccaagcaatagccaccttgtcttggtcctagacaaggacttgcagaagctgccgtgggaaagcatgcccagcctccaagcactgcctgtcacccggctgccctccttccgcttcctactcagctactccatcatcaaagagtatggggcctcgccagtgctgagtcaaggggtggatccacgaagtaccttctatgtcctgaaccctcacaataacctgtcaagcacagaggagcaatttcgagccaatttcagcagtgaagctggctggagaggagtggttggggaggtgccaagacctgaacaggtgcaggaagccctgacaaagcatgatttgtatatctatgcagggcatggggctggtgcccgcttccttgatgggcaggctgtcctgcggctgagctgtcgggcagtggccctgctgtttggctgtagcagtgcggccctggctgtgcgtggaaacctggagggggctggcatcgtgctcaagtacatcatggctggttgccccttgtttctgggtaatctctgggatgtgactgaccgcgacattgaccgctacacggaagctctgctgcaaggctggcttggagcaggcccaggggccccccttctctactatgtaaaccaggcccgccaagctccccgactcaagtatcttattggggctgcacctatagcctatggcttgcctgtctctctgcggtaaccccatggagctgtcttattgatgctagaagcctcataactgttctacctccaaggttagatttaatccttaggataactcttttaaagtgattttccccagtgttttatatgaaacatttccttttgatttaacctcagtataataaagatacatcatttaaaccctgaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:9700 -> Molecular function: GO:0003824 [catalytic activity] evidence: NAS GeneID:9700 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:9700 -> Molecular function: GO:0008234 [cysteine-type peptidase activity] evidence: NAS GeneID:9700 -> Molecular function: GO:0008234 [cysteine-type peptidase activity] evidence: TAS GeneID:9700 -> Biological process: GO:0000070 [mitotic sister chromatid segregation] evidence: IMP GeneID:9700 -> Biological process: GO:0000212 [meiotic spindle organization] evidence: IEA GeneID:9700 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS GeneID:9700 -> Biological process: GO:0000910 [cytokinesis] evidence: NAS GeneID:9700 -> Biological process: GO:0006508 [proteolysis] evidence: IEA GeneID:9700 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:9700 -> Biological process: GO:0040001 [establishment of mitotic spindle localization] evidence: NAS GeneID:9700 -> Biological process: GO:0045143 [homologous chromosome segregation] evidence: IEA GeneID:9700 -> Biological process: GO:0045842 [positive regulation of mitotic metaphase/anaphase transition] evidence: NAS GeneID:9700 -> Biological process: GO:0045875 [negative regulation of sister chromatid cohesion] evidence: NAS GeneID:9700 -> Cellular component: GO:0005634 [nucleus] evidence: IEA GeneID:9700 -> Cellular component: GO:0005813 [centrosome] evidence: IDA GeneID:9700 -> Cellular component: GO:0005829 [cytosol] evidence: TAS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_036423 -> EC 3.4.22.49
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