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2024-04-20 05:19:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001017420 3376 bp mRNA linear PRI 04-MAY-2013
DEFINITION Homo sapiens establishment of sister chromatid cohesion
N-acetyltransferase 2 (ESCO2), mRNA.
ACCESSION NM_001017420 XM_088331
VERSION NM_001017420.2 GI:63252914
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 3376)
AUTHORS Abbas,R., Waqar,S., Ahmad,T.M., Irfan Waheed,K.A., Sultan,T. and
Qureshi,A.U.
TITLE A child with Roberts syndrome
JOURNAL J Coll Physicians Surg Pak 21 (7), 431-433 (2011)
PUBMED 21777535
REMARK GeneRIF: the ESCO2 gene mutation responsible for developmental
abnormalities maps to chromosome 8p21.
REFERENCE 2 (bases 1 to 3376)
AUTHORS Nishihara,M., Yamada,M., Nozaki,M., Nakahira,K. and Yanagihara,I.
TITLE Transcriptional regulation of the human establishment of cohesion 1
homolog 2 gene
JOURNAL Biochem. Biophys. Res. Commun. 393 (1), 111-117 (2010)
PUBMED 20116366
REMARK GeneRIF: These results demonstrated that the Staf binding site
functioned as the basal transcriptional activator of the S
phase-specific gene ESCO2, but other mechanisms are required for
cell cycle-dependent expression.
REFERENCE 3 (bases 1 to 3376)
AUTHORS Vega,H., Trainer,A.H., Gordillo,M., Crosier,M., Kayserili,H.,
Skovby,F., Uzielli,M.L., Schnur,R.E., Manouvrier,S., Blair,E.,
Hurst,J.A., Forzano,F., Meins,M., Simola,K.O., Raas-Rothschild,A.,
Hennekam,R.C. and Jabs,E.W.
TITLE Phenotypic variability in 49 cases of ESCO2 mutations, including
novel missense and codon deletion in the acetyltransferase domain,
correlates with ESCO2 expression and establishes the clinical
criteria for Roberts syndrome
JOURNAL J. Med. Genet. 47 (1), 30-37 (2010)
PUBMED 19574259
REMARK GeneRIF: In situ hybridisation on human embryos showed ESCO2
expression in the brain, face, limb, kidney and gonads, which
corresponds to the structures affected in Roberts syndrome.
REFERENCE 4 (bases 1 to 3376)
AUTHORS Terret,M.E., Sherwood,R., Rahman,S., Qin,J. and Jallepalli,P.V.
TITLE Cohesin acetylation speeds the replication fork
JOURNAL Nature 462 (7270), 231-234 (2009)
PUBMED 19907496
REFERENCE 5 (bases 1 to 3376)
AUTHORS van der Lelij,P., Godthelp,B.C., van Zon,W., van Gosliga,D.,
Oostra,A.B., Steltenpool,J., de Groot,J., Scheper,R.J.,
Wolthuis,R.M., Waisfisz,Q., Darroudi,F., Joenje,H. and de
Winter,J.P.
TITLE The cellular phenotype of Roberts syndrome fibroblasts as revealed
by ectopic expression of ESCO2
JOURNAL PLoS ONE 4 (9), E6936 (2009)
PUBMED 19738907
REMARK GeneRIF: ESCO2 has an S-phase specific role in the maintenance of
genome stability
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 3376)
AUTHORS Schule,B., Oviedo,A., Johnston,K., Pai,S. and Francke,U.
TITLE Inactivating mutations in ESCO2 cause SC phocomelia and Roberts
syndrome: no phenotype-genotype correlation
JOURNAL Am. J. Hum. Genet. 77 (6), 1117-1128 (2005)
PUBMED 16380922
REMARK GeneRIF: Inactivating mutations in ESCO2 cause SC phocomelia and
Roberts syndrome: there is no phenotype-genotype correlation.
REFERENCE 7 (bases 1 to 3376)
AUTHORS Hou,F. and Zou,H.
TITLE Two human orthologues of Eco1/Ctf7 acetyltransferases are both
required for proper sister-chromatid cohesion
JOURNAL Mol. Biol. Cell 16 (8), 3908-3918 (2005)
PUBMED 15958495
REMARK GeneRIF: EFO1 and EFO2 are targeted to different chromosome
structures to help establish or maintain sister-chromatid cohesion
REFERENCE 8 (bases 1 to 3376)
AUTHORS Vega,H., Waisfisz,Q., Gordillo,M., Sakai,N., Yanagihara,I.,
Yamada,M., van Gosliga,D., Kayserili,H., Xu,C., Ozono,K.,
Jabs,E.W., Inui,K. and Joenje,H.
TITLE Roberts syndrome is caused by mutations in ESCO2, a human homolog
of yeast ECO1 that is essential for the establishment of sister
chromatid cohesion
JOURNAL Nat. Genet. 37 (5), 468-470 (2005)
PUBMED 15821733
REMARK GeneRIF: required for the establishment of sister chromatid
cohesion during S phase
REFERENCE 9 (bases 1 to 3376)
AUTHORS Fallone,C.A.
TITLE Epidemiology of the antibiotic resistance of Helicobacter pylori in
Canada
JOURNAL Can. J. Gastroenterol. 14 (10), 879-882 (2000)
PUBMED 11111111
REMARK Review article
REFERENCE 10 (bases 1 to 3376)
AUTHORS Tomkins,D., Hunter,A. and Roberts,M.
TITLE Cytogenetic findings in Roberts-SC phocomelia syndrome(s)
JOURNAL Am. J. Med. Genet. 4 (1), 17-26 (1979)
PUBMED 495649
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AY882862.1 and AF306679.1.
This sequence is a reference standard in the RefSeqGene project.
On May 11, 2005 this sequence version replaced gi:62899034.
Summary: This gene encodes a protein that may have
acetyltransferase activity and may be required for the
establishment of sister chromatid cohesion during the S phase of
mitosis. Mutations in this gene have been associated with Roberts
syndrome. [provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF306679.1, AL832666.1 [ECO:0000332]
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
1-2018 AY882862.1 1-2018
2019-3376 AF306679.1 2018-3375
FEATURES Location/Qualifiers
source 1..3376
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8p21.1"
gene 1..3376
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/note="establishment of sister chromatid cohesion
N-acetyltransferase 2"
/db_xref="GeneID:157570"
/db_xref="HGNC:27230"
/db_xref="HPRD:18564"
/db_xref="MIM:609353"
exon 1..67
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 16
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="g"
/replace="t"
/db_xref="dbSNP:111510470"
exon 68..136
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
CDS 84..1889
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/EC_number="2.3.1.-"
/note="ECO1 homolog 2"
/codon_start=1
/product="N-acetyltransferase ESCO2"
/protein_id="NP_001017420.1"
/db_xref="GI:62899035"
/db_xref="CCDS:CCDS34872.1"
/db_xref="GeneID:157570"
/db_xref="HGNC:27230"
/db_xref="HPRD:18564"
/db_xref="MIM:609353"
/translation="
MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEENLHCSQQEHFVLSALKTTEINRLPSANQGSPFKSALSTVSFYNQNKWYLNPLERKLIKESRSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKPQKSLTAKYQPKYRHIKPVSRNSRNSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIKPQVTLQGGAAFFVRKKSSLRKSSLENEPSLGRTQKSKSEVIEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLSASSKNKEKLIKDSSDDRVSSKEHKVDKNEAFSSEDSLGENKTISPKSTVYPIFSASSVNSKRSLGEEQFSVGSVNFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTASNPEDEMQHVQHHHRFLEGIKYVGWKKERVVAEFWDGKIVLVLPHDPSFAIKKVEDVQELVDNELGFQQVVPKCPNKIKTFLFISDEKRVVGCLIAEPIKQAFRVLSEPIGPESPSSTECPRAWQCSDVPEPAVCGISRIWVFRLKRRKRIARRLVDTLRNCFMFGCFLSTDEIAFSDPTPDGKLFATKYCNTPNFLVYNFNS
"
misc_feature 168..170
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q56NI9.1); phosphorylation site"
misc_feature 168..170
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 306..308
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q56NI9.1); phosphorylation site"
misc_feature 813..815
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q56NI9.1); phosphorylation site"
misc_feature 1203..1325
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/note="zinc-finger of acetyl-transferase ESCO; Region:
zf-C2H2_3; pfam13878"
/db_xref="CDD:206049"
misc_feature 1665..1874
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/note="ESCO1/2 acetyl-transferase; Region:
Acetyltransf_13; pfam13880"
/db_xref="CDD:206051"
variation 106
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="c"
/db_xref="dbSNP:146504750"
variation 109
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:145248677"
variation 117
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201025850"
variation 133
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141013081"
exon 137..944
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 174
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144747170"
variation 230
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="g"
/db_xref="dbSNP:201989984"
variation 260
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199811077"
variation 262
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148224141"
variation 294
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="g"
/replace="t"
/db_xref="dbSNP:11550385"
variation 300
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="g"
/db_xref="dbSNP:141222001"
variation 306
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150317304"
variation 322
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:4732748"
variation 324
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143406229"
variation 330
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:113305862"
variation 333
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="g"
/db_xref="dbSNP:371077886"
variation 335..336
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="at"
/db_xref="dbSNP:80359844"
variation 377..380
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="gaga"
/db_xref="dbSNP:80359845"
variation 386
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373491890"
variation 387
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201354290"
variation 389
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371324732"
variation 390..394
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="aaaga"
/db_xref="dbSNP:80359846"
variation 391..392
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="aa"
/db_xref="dbSNP:80359847"
variation 400
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199638838"
variation 408
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199653554"
variation 414
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147327594"
variation 429
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:182074852"
variation 434
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:139322666"
variation 465
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143828675"
variation 472
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143231066"
variation 500..501
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="a"
/db_xref="dbSNP:80359848"
variation 506
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="g"
/db_xref="dbSNP:147519828"
variation 539
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148554778"
variation 588
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:80359849"
variation 589
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1052492"
variation 593
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:112031297"
variation 598
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201521463"
variation 641
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368458854"
variation 660
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143539004"
variation 687
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:80359850"
variation 745
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:199665460"
variation 749
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201608468"
variation 767
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:146523589"
variation 804
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141078857"
variation 805
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201194009"
variation 811
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143466016"
variation 828..829
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="gt"
/db_xref="dbSNP:80359851"
variation 834..835
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="g"
/db_xref="dbSNP:80359852"
variation 843..844
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="a"
/db_xref="dbSNP:80359853"
variation 843
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="a"
/db_xref="dbSNP:80359854"
variation 847..848
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="tt"
/db_xref="dbSNP:80359855"
variation 847
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:141631911"
variation 851
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:372611248"
variation 860
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375210525"
variation 898
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="g"
/replace="t"
/db_xref="dbSNP:143518212"
variation 903
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="g"
/db_xref="dbSNP:111667783"
exon 945..1038
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 958..961
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="acag"
/db_xref="dbSNP:80359856"
variation 962..963
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="ag"
/db_xref="dbSNP:80359857"
variation 979
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141959652"
variation 986
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="g"
/replace="t"
/db_xref="dbSNP:200848023"
variation 998
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:184200865"
variation 999
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200213698"
variation 1012
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:145734811"
variation 1019
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="g"
/replace="t"
/db_xref="dbSNP:375459354"
exon 1039..1096
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 1045
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="c"
/db_xref="dbSNP:1380676"
variation 1087
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:138646734"
exon 1097..1214
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 1114
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="c"
/db_xref="dbSNP:143346057"
variation 1122
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368924075"
variation 1138
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:150904402"
variation 1159
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="c"
/db_xref="dbSNP:57479434"
variation 1167
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149604337"
variation 1177
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144288263"
variation 1188
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:202084183"
variation 1194..1195
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="a"
/replace="g"
/db_xref="dbSNP:80359859"
variation 1195
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="c"
/db_xref="dbSNP:199747189"
variation 1200
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="g"
/replace="t"
/db_xref="dbSNP:191457728"
variation 1211
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="g"
/db_xref="dbSNP:140062105"
exon 1215..1346
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 1240
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143606966"
variation 1245
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="g"
/db_xref="dbSNP:373061021"
variation 1255
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="g"
/db_xref="dbSNP:369056136"
variation 1258
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:146312522"
variation 1291
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:373708669"
variation 1322
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="g"
/replace="t"
/db_xref="dbSNP:377605480"
variation 1345
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:189897222"
exon 1347..1436
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 1352
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:80359864"
variation 1362
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200548692"
variation 1412
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376887269"
variation 1428
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371574054"
exon 1437..1580
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 1544..1545
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="ag"
/db_xref="dbSNP:80359866"
variation 1576
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="c"
/db_xref="dbSNP:143530690"
exon 1581..1756
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 1593
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="g"
/db_xref="dbSNP:368306137"
variation 1605
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:114956994"
variation 1630
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201095039"
variation 1631
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149917909"
variation 1675
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144956719"
variation 1680..1681
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="t"
/db_xref="dbSNP:80359867"
variation 1698
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="g"
/replace="t"
/db_xref="dbSNP:80359868"
variation 1708
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373944853"
variation 1730
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:73568217"
exon 1757..3359
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/inference="alignment:Splign:1.39.8"
variation 1818
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="c"
/db_xref="dbSNP:115144373"
variation 1868
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="c"
/db_xref="dbSNP:375906405"
variation 1923
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:182715200"
variation 1963..1964
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="taa"
/db_xref="dbSNP:200615628"
variation 1964..1965
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="aata"
/db_xref="dbSNP:139887923"
variation 1964
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:200314258"
variation 1965..1966
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="aata"
/db_xref="dbSNP:374966526"
variation 1985
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:118103454"
variation 1997
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:79020291"
variation 2000..2001
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="ac"
/db_xref="dbSNP:144484866"
variation 2000
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:111607440"
variation 2001..2002
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="ac"
/replace="acac"
/db_xref="dbSNP:34017150"
variation 2010..2011
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="caca"
/db_xref="dbSNP:72174220"
variation 2011..2012
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="acac"
/db_xref="dbSNP:35484405"
variation 2018..2019
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="ac"
/replace="acacac"
/db_xref="dbSNP:56062620"
variation 2019
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="acac"
/db_xref="dbSNP:67380448"
variation 2019
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:62498042"
variation 2021
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199687371"
variation 2030
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200666958"
variation 2188
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="c"
/replace="t"
/db_xref="dbSNP:113728758"
variation 2252
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="c"
/db_xref="dbSNP:72609983"
variation 2314
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:72609984"
variation 2356
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="t"
/db_xref="dbSNP:111395487"
variation 2359
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:200753108"
variation 2360
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:201762904"
variation 2362..2363
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="t"
/db_xref="dbSNP:57013897"
variation 2370
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:80050409"
variation 2372
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="t"
/db_xref="dbSNP:62498043"
variation 2380
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149395052"
variation 2392..2393
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="gt"
/db_xref="dbSNP:374900624"
variation 2438..2439
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="c"
/db_xref="dbSNP:35540364"
variation 2455
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377214278"
STS 2516..2657
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/standard_name="STS-H67282"
/db_xref="UniSTS:63854"
variation 2915
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368030062"
STS 3054..3208
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/standard_name="RH102575"
/db_xref="UniSTS:96909"
variation 3099
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace="g"
/replace="t"
/db_xref="dbSNP:144851720"
variation 3294..3297
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
/replace=""
/replace="taac"
/db_xref="dbSNP:145717897"
polyA_signal 3331..3336
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
polyA_site 3359
/gene="ESCO2"
/gene_synonym="2410004I17Rik; EFO2; RBS"
ORIGIN
attatttgaagacgctcacggagcggctggctaggctgaggagagctcgccgggctctgaggcgcaggaattcaataaagaaaatggcagctcttactccaaggaagaggaagcaggattctttgaagtgtgacagccttttacacttcactgaaaatctgtttccatcacctaataaaaagcactgtttttatcaaaacagtgataaaaatgaagaaaacctgcattgctctcaacaagagcattttgttttaagtgcgctcaaaacaactgaaataaatagactgccatcagcaaatcaaggctcaccatttaaatctgcgctctccactgtatctttttacaaccaaaataagtggtacctcaatccactggagagaaagctgataaaagagagtagatctacttgtctaaaaactaatgatgaagataaatcttttcccattgtgacagaaaaaatgcaaggaaaaccagtctgctccaagaagaacaacaaaaaaccacagaagagtttaactgctaagtatcaaccaaagtatagacacatcaagcctgtatcaaggaattctagaaattccaagcaaaatcgagtgatctataagccaattgtggagaaggaaaataattgtcattcagctgaaaataattccaatgctcctcgggttctgagccaaaaaataaaaccacaagttacactccagggtggagcagcattttttgttagaaaaaaatcttctcttagaaaatcgtccctggaaaatgagccgtcactgggacgcacccaaaagagtaaatcagaagtcattgaagattctgatgtagagactgtcagtgaaaaaaaaacttttgcgacaaggcaagtgccaaagtgcttggtcctagaagagaaattgaaaattggactactgagtgcaagcagtaaaaataaagagaaattaataaaggattcatcagatgacagagtttcttcaaaggaacataaagttgataaaaatgaggctttttcttcagaggattctcttggtgagaataagacaatttctcctaagtccactgtctatccaatcttcagtgcatcttcagtcaattcaaaaagatctttaggtgaagaacagttttctgtgggatctgtcaacttcatgaaacagaccaatatccagaaaaatactaataccagagatacaagtaaaaaaacaaaagaccagctcatcatcgacgctggtcagaaacattttggggctactgtgtgcaagtcttgtggtatgatatatactgcttccaaccctgaagatgaaatgcagcatgtacagcatcaccacaggtttctggaaggaatcaaatatgtgggttggaagaaagaacgtgtagtagcagagttttgggatgggaaaatcgtgttggttctgccacatgatccaagctttgctatcaaaaaggtagaagatgtccaagaacttgttgataatgaattgggcttccagcaagttgttcctaaatgtccaaacaaaataaaaacttttctttttatatctgatgaaaagagagtagttgggtgtttaattgcagaacccatcaaacaggcatttcgtgtcctgtctgaaccaattggtccagaatccccaagctctacggaatgtcctagggcttggcaatgttcagatgtaccagaacctgcagtctgtgggataagtagaatctgggttttcagactgaagagaagaaagcgcattgcaagacgactggttgataccctcaggaattgcttcatgtttggctgttttctcagcactgatgaaatagcattttctgacccaacaccagatggcaagttatttgcaaccaagtactgcaacacccctaatttcctcgtatataattttaatagttaaagctgatttcagttataaaggagttactatctggataagttcaaagagctccttattataaaatacaaactatttaatatcaaaataaaaaataccgagactcacactcatacacacacacacacacacgcacacacacatatcacagttttgttccttatgagttgaaaagtcaggaataaatttgttgaaaattatctggggattcaaaggaaaaatctttgggtgattccctgattagcactctgaatgtttaattatgaaactttgtagctataactggaaaattacctgactctttgtaagagtattaaatacaaagtgatttttctctagaaatgtgacctggtcttttataaagcccactcttagaccaggattatctaatgccacatcagaagcaaacaggcaaatttaaacttgggcaagtaatttctgtgcccaatttgtaaagggaattcctgaatttttttttttttttaatagaggcatgggtctcactgtgttgcccaggctggtctgaaacttttgggctcaagcgatcctcccaaaacgctgggattacagtcatgagccaccgtgcccagcctaattcctgacttctctatacagagtcttcacttgataggcactcgtctgtagtaactcagtttgaatatctttagaaaatgtttagaatttatttgtaacaagatggtaaggaataagattatcccatatgcatttctgtagagcagaatttgatagcttagtgttcaatctttttgaaaataaatgtttacctgtcatcagatttaattaaaattatacttagtaattgcactattacttagttaatttttgttgtatggaaatattggtagtactactttgggaacctgttactgacaattgatgtcattaacaaaatgcctagttggattagatgttttcattttctaattttttgcttgtttaaaatgcaccttacttgttctgagatacctggcaaaagtctttacaaaatgtatggtaatagaaccaaggttagtaaatatacataggctggtggatgagagaccatggaactgtgtaaatacacttaaatgttcacacatttttctagtgtaattcttggatactttaaaaagcaaaacattgttcaaattgttttgattctgaaaaatcattcaactgctaactggcaataagactctaggcaagtcgttttccagattgtaattatatgtagaaactattcatctgcattcattttatttgcctgtaagttaacatgtttccaaaatttaaaagcctgggtccccaaaagaatgtggaagtattaaaatgtatgtaattatgcaaacattttaatgctattttctgcacttatttcttttaaatattttatttaaaatttttaattaacattttgtttgcttaatgcttttgttatgaatcaattaaaattctttattttatacaactaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:157570 -> Molecular function: GO:0016746 [transferase activity, transferring acyl groups] evidence: IEA
GeneID:157570 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:157570 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:157570 -> Biological process: GO:0006275 [regulation of DNA replication] evidence: IMP
GeneID:157570 -> Biological process: GO:0034421 [post-translational protein acetylation] evidence: IMP
GeneID:157570 -> Cellular component: GO:0000785 [chromatin] evidence: IDA
GeneID:157570 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001017420 -> EC 2.3.1.-
by
@meso_cacase at
DBCLS
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