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2024-04-20 02:27:02, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018682 6725 bp mRNA linear PRI 11-MAY-2013
DEFINITION Homo sapiens lysine (K)-specific methyltransferase 2E (KMT2E),
transcript variant 2, mRNA.
ACCESSION NM_018682
VERSION NM_018682.3 GI:91199542
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 6725)
AUTHORS Liu,J., Cheng,F. and Deng,L.W.
TITLE MLL5 maintains genomic integrity by regulating the stability of the
chromosomal passenger complex through a functional interaction with
Borealin
JOURNAL J. Cell. Sci. 125 (PT 19), 4676-4685 (2012)
PUBMED 22797924
REMARK GeneRIF: MLL5 functionally interacts with Borealin, facilitates the
expression of chromosomal passenger complex, and hence contributes
to mitotic fidelity and genomic integrity.
REFERENCE 2 (bases 1 to 6725)
AUTHORS Yew,C.W., Lee,P., Chan,W.K., Lim,V.K., Tay,S.K., Tan,T.M. and
Deng,L.W.
TITLE A novel MLL5 isoform that is essential to activate E6 and E7
transcription in HPV16/18-associated cervical cancers
JOURNAL Cancer Res. 71 (21), 6696-6707 (2011)
PUBMED 21908553
REMARK GeneRIF: A new isoform, MLL5beta, truncated in exon 14, regulates
E6 & E7 transcription in cervical carcinoma cells. Interaction of
MLL5beta with the AP-1-binding site at the distal region of the
HPV18 long control region activated E6/E7 transcription.
REFERENCE 3 (bases 1 to 6725)
AUTHORS Damm,F., Oberacker,T., Thol,F., Surdziel,E., Wagner,K.,
Chaturvedi,A., Morgan,M., Bomm,K., Gohring,G., Lubbert,M., Kanz,L.,
Fiedler,W., Schlegelberger,B., Heil,G., Schlenk,R.F., Dohner,K.,
Dohner,H., Krauter,J., Ganser,A. and Heuser,M.
TITLE Prognostic importance of histone methyltransferase MLL5 expression
in acute myeloid leukemia
JOURNAL J. Clin. Oncol. 29 (6), 682-689 (2011)
PUBMED 21205756
REMARK GeneRIF: High MLL5 expression levels are associated with a
favorable outcome and may improve risk and treatment stratification
in acute myeloid leukemia
REFERENCE 4 (bases 1 to 6725)
AUTHORS Liu,J., Wang,X.N., Cheng,F., Liou,Y.C. and Deng,L.W.
TITLE Phosphorylation of mixed lineage leukemia 5 by CDC2 affects its
cellular distribution and is required for mitotic entry
JOURNAL J. Biol. Chem. 285 (27), 20904-20914 (2010)
PUBMED 20439461
REMARK GeneRIF: Phosphorylation of MLL5 may have an indispensable role in
the mitotic progression in mixed lineage leukemia cells.
REFERENCE 5 (bases 1 to 6725)
AUTHORS Fujiki,R., Chikanishi,T., Hashiba,W., Ito,H., Takada,I.,
Roeder,R.G., Kitagawa,H. and Kato,S.
TITLE GlcNAcylation of a histone methyltransferase in
retinoic-acid-induced granulopoiesis
JOURNAL Nature 459 (7245), 455-459 (2009)
PUBMED 19377461
REMARK GeneRIF: nuclear MLL5 GlcNAcylation triggers cell lineage
determination of HL60 through activation of its histone lysine
methyltransferase activity
REFERENCE 6 (bases 1 to 6725)
AUTHORS Cheng,F., Liu,J., Zhou,S.H., Wang,X.N., Chew,J.F. and Deng,L.W.
TITLE RNA interference against mixed lineage leukemia 5 resulted in cell
cycle arrest
JOURNAL Int. J. Biochem. Cell Biol. 40 (11), 2472-2481 (2008)
PUBMED 18573682
REMARK GeneRIF: These findings provide evidence that MLL5 might be an
important cell cycle regulator, participating in cell cycle
regulatory network machinery at multiple cell cycle stages.
REFERENCE 7 (bases 1 to 6725)
AUTHORS Sun,X.J., Xu,P.F., Zhou,T., Hu,M., Fu,C.T., Zhang,Y., Jin,Y.,
Chen,Y., Chen,S.J., Huang,Q.H., Liu,T.X. and Chen,Z.
TITLE Genome-wide survey and developmental expression mapping of
zebrafish SET domain-containing genes
JOURNAL PLoS ONE 3 (1), E1499 (2008)
PUBMED 18231586
REMARK GeneRIF: MLL5 protein has been classified into a distinct subfamily
with SETD5, because its SET domain and domain architecture show
high homology with SETD5 rather than the members in MLL subfamily
(i.e. MLL, MLL2, MLL3 and MLL4)
Publication Status: Online-Only
REFERENCE 8 (bases 1 to 6725)
AUTHORS Deng,L.W., Chiu,I. and Strominger,J.L.
TITLE MLL 5 protein forms intranuclear foci, and overexpression inhibits
cell cycle progression
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (3), 757-762 (2004)
PUBMED 14718661
REMARK GeneRIF: MLL5 forms intranuclear protein complexes that may play an
important role in chromatin remodeling and cellular growth
suppression.
REFERENCE 9 (bases 1 to 6725)
AUTHORS Emerling,B.M., Bonifas,J., Kratz,C.P., Donovan,S., Taylor,B.R.,
Green,E.D., Le Beau,M.M. and Shannon,K.M.
TITLE MLL5, a homolog of Drosophila trithorax located within a segment of
chromosome band 7q22 implicated in myeloid leukemia
JOURNAL Oncogene 21 (31), 4849-4854 (2002)
PUBMED 12101424
REMARK GeneRIF: MLL5 is a homolog of Drosophila trithorax located within a
segment of chromosome band 7q22 implicated in myeloid leukemia.
REFERENCE 10 (bases 1 to 6725)
AUTHORS Johnson,E. and Cotter,F.E.
TITLE Monosomy 7 and 7q--associated with myeloid malignancy
JOURNAL Blood Rev. 11 (1), 46-55 (1997)
PUBMED 9218106
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AY147037.1 and AF519459.1.
On Apr 6, 2006 this sequence version replaced gi:23503326.
Summary: This gene is a member of the myeloid/lymphoid or
mixed-lineage leukemia (MLL) family and encodes a protein with an
N-terminal PHD zinc finger and a central SET domain. Overexpression
of the protein inhibits cell cycle progression. Alternate
transcriptional splice variants have been characterized. [provided
by RefSeq, Jul 2008].
Transcript Variant: This variant (2) lacks an internal exon in the
5' UTR, compared to variant 1. Variants 1 and 2 encode the same
protein.
##Evidence-Data-START##
Transcript exon combination :: AF519459.1 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-185 AY147037.1 1-185
186-1261 AF519459.1 1-1076
1262-6711 AY147037.1 1410-6859
6712-6725 AF519459.1 6527-6540
FEATURES Location/Qualifiers
source 1..6725
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="7"
/map="7q22.1"
gene 1..6725
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/note="lysine (K)-specific methyltransferase 2E"
/db_xref="GeneID:55904"
/db_xref="HGNC:18541"
/db_xref="MIM:608444"
exon 1..308
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 82
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:77433771"
STS 123..247
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/standard_name="SGC30791"
/db_xref="UniSTS:35139"
variation 159
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:188881680"
variation 180
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:143067491"
exon 309..457
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
misc_feature 360..362
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/note="upstream in-frame stop codon"
CDS 387..5963
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/EC_number="2.1.1.43"
/note="lysine N-methyltransferase 2E; myeloid/lymphoid or
mixed-lineage leukemia protein 5; myeloid/lymphoid or
mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"
/codon_start=1
/product="histone-lysine N-methyltransferase MLL5"
/protein_id="NP_061152.3"
/db_xref="GI:91199543"
/db_xref="CCDS:CCDS34723.1"
/db_xref="GeneID:55904"
/db_xref="HGNC:18541"
/db_xref="MIM:608444"
/translation="
MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLPYADHNYGARPPPTPPASPPPSVLISKNEVGIFTTPNFDETSSATTISTSEDGSYGTDVTRCICGFTHDDGYMICCDKCSVWQHIDCMGIDRQHIPDTYLCERCQPRNLDKERAVLLQRRKRENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVNDKRRKKSGEKEQHISKCKKAFREGSRKSSRVKGSAPEIDPSSDGSNFGWETKIKAWMDRYEEANNNQYSEGVQREAQRIALRLGNGNDKKEMNKSDLNTNNLLFKPPVESHIQKNKKILKSAKDLPPDALIIEYRGKFMLREQFEANGYFFKRPYPFVLFYSKFHGLEMCVDARTFGNEARFIRRSCTPNAEVRHEIQDGTIHLYIYSIHSIPKGTEITIAFDFDYGNCKYKVDCACLKENPECPVLKRSSESMENINSGYETRRKKGKKDKDISKEKDTQNQNITLDCEGTTNKMKSPETKQRKLSPLRLSVSNNQEPDFIDDIEEKTPISNEVEMESEEQIAERKRKMTREERKMEAILQAFARLEKREKRREQALERISTAKTEVKTECKDTQIVSDAEVIQEQAKEENASKPTPAKVNRTKQRKSFSRSRTHIGQQRRRHRTVSMCSDIQPSSPDIEVTSQQNDIENTVLTIEPETETALAEIITETEVPALNKCPTKYPKTKKHLVNEWLSEKNEKTGKPSDGLSERPLRITTDPEVLATQLNSLPGLTYSPHVYSTPKHYIRFTSPFLSEKRRRKEPTENISGSCKKRWLKQALEEENSAILHRFNSPCQERSRSPAVNGENKSPLLLNDSCSLPDLTTPLKKRRFYQLLDSVYSETSTPTPSPYATPTHTDITPMDPSFATPPRIKSDDETCRNGYKPIYSPVTPVTPGTPGNTMHFENISSPESSPEIKRRTYSQEGYDRSSTMLTLGPFRNSNLTELGLQEIKTIGYTSPRSRTEVNRQCPGEKEPVSDLQLGLDAVEPTALHKTLETPAHDRAEPNSQLDSTHSGRGTMYSSWVKSPDRTGVNFSVNSNLRDLTPSHQLEVGGGFRISESKCLMQDDTRGMFMETTVFCTSEDGLVSGFGRTVNDNLIDGNCTPQNPPQKKKVSLLEYRKRQREARKSGSKTENFPLISVSPHASGSLSNNGDGCASSNDNGEQVDHTASLPLPTPATVYNATSEETSNNCPVKDATASEKNEPEVQWTASTSVEQVRERSYQRALLLSDHRKDKDSGGESPCVSCSPSHVQSSPSSHSNHIPQLQAKGPVPSFSELMEDPDPENPEPTTTNECPSPDTSQNTCKSPPKMSKPGSPGSVIPAQAHGKIFTKPDPQWDSTVSASEAENGVHLKTELQQKQLSNNNQALSKNHPPQTHVRNSSEQLSQKLPSVPTKLHCPPSPHLENPPKSSTPHTPVQHGYLSPKPPSQQLGSPYRPHHSQSPQVGTPQREPQRNFYPAAQNLPANTQQATSGTLFTQTPSGQSSATYSQFNQQSLNSTAPPPPPPPPPSSSYYQNQQPSANFQNYNQLKGSLSQQTVFTSGPNQALPGTTSQQTVPGHHVTPGHFLPSQNPTIHHQTAAAVVPPPPPPPPAPGPHLVQQPNSHQQHSVAHVVGPVHAVTPGSHIHSQTAGHHLPPPPPPPGPAPHHHPPPHPSTGLQGLQAQHQHVVNSAPPPPPPPPPSSVLASGHHTTSAQALHHPPHQGPPLFPSSAHPTVPPYPSQATHHTTLGPGPQHQPSGTGPHCPLPVTGPHLQPQGPNSIPTPTASGFCPHPGSVALPHGVQGPQQASPVPGQIPIHRAQVPPTFQNNYHGSGWH
"
misc_feature 747..884
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/note="PHD-finger; Region: PHD; pfam00628"
/db_xref="CDD:201356"
misc_feature <843..1736
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/note="Proteins containing SET domain [General function
prediction only]; Region: COG2940"
/db_xref="CDD:32763"
misc_feature 1413..1742
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/note="SET (Su(var)3-9, Enhancer-of-zeste, Trithorax)
domain; Region: SET; smart00317"
/db_xref="CDD:197649"
misc_feature 4599..4601
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
variation 405
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:184187699"
variation 411
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:138858897"
variation 415
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:140507140"
variation 428
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150090175"
exon 458..572
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 461
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:138149088"
variation 468
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:367956492"
variation 527
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:374380763"
variation 535
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201587183"
exon 573..802
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 617
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:367576598"
variation 632
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:149314039"
variation 677
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:371844872"
variation 696
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375785054"
variation 728
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370179742"
variation 740
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:187354352"
variation 780
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372344139"
exon 803..883
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 803
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:202085161"
variation 804
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:74375534"
variation 822
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:111594744"
variation 860
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200520214"
exon 884..942
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 918
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:147429312"
variation 921
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:199652176"
variation 922
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371088361"
exon 943..1115
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 962
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:371775776"
variation 971
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374139468"
variation 992
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:138243867"
variation 1007
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:374027563"
variation 1040
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:147196269"
variation 1044
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201601985"
variation 1047
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:371462984"
variation 1061
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:376671482"
variation 1079
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:199754455"
variation 1082
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:148630031"
variation 1095
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200620705"
variation 1098
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="t"
/db_xref="dbSNP:141204161"
exon 1116..1154
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 1123
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150708195"
variation 1129
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:139026465"
exon 1155..1385
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 1156
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:144013371"
variation 1157
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138700844"
variation 1175
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369050133"
variation 1176
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:146629053"
variation 1184
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:140199806"
variation 1244
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:61739603"
variation 1246
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:80311984"
variation 1257
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:201187955"
variation 1261
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:61739593"
variation 1262
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:2240455"
variation 1264
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372680962"
variation 1314
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:146854411"
variation 1317
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:199977896"
variation 1332
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="t"
/db_xref="dbSNP:200289007"
variation 1360
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148942943"
variation 1374
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:374380608"
variation 1377
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:377473955"
exon 1386..1516
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
STS 1428..1594
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/standard_name="MARC_21397-21398:1032898998:1"
/db_xref="UniSTS:268546"
variation 1502
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:373130935"
exon 1517..1634
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 1518
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200903934"
variation 1613
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:143716416"
STS 1633..2102
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/standard_name="Mll5"
/db_xref="UniSTS:547265"
exon 1635..1744
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 1643
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:151074690"
variation 1699
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201969329"
variation 1735
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:140935407"
exon 1745..2009
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 1772
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:146427176"
variation 1773
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201339599"
variation 1797
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:376054779"
variation 1803
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369391239"
variation 1804
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373047617"
variation 1815..1816
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace=""
/replace="c"
/db_xref="dbSNP:34875652"
variation 1831
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375105762"
variation 1832
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138172976"
variation 1836
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368958000"
variation 1845
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:61743286"
variation 1882
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200771249"
variation 1904
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:193092945"
variation 1946
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:143750087"
variation 1955
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373311912"
variation 1991
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="t"
/db_xref="dbSNP:185794768"
exon 2010..2108
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 2044
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:370675520"
exon 2109..2273
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 2110
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:377156477"
exon 2274..2582
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 2320
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:368566319"
variation 2322
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369413022"
variation 2353
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:145908587"
variation 2437
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138591534"
variation 2519
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:149308331"
variation 2552
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:144493689"
variation 2556
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:766981"
exon 2583..2837
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 2613
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:111519395"
variation 2639
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:148436282"
variation 2664
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:142333661"
variation 2787
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200272564"
variation 2809
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:200021554"
variation 2812
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:145944822"
exon 2838..2982
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 2844
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:75848555"
STS 2894..3024
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/standard_name="MARC_7337-7338:992008345:1"
/db_xref="UniSTS:231320"
variation 2916
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376005597"
variation 2932
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:140167666"
variation 2941
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:111903775"
variation 2951
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368609154"
variation 2974
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:147624119"
exon 2983..3233
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 3004
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:199535856"
variation 3015
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:368000092"
variation 3017
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200933164"
variation 3031
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200476733"
variation 3087
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="t"
/db_xref="dbSNP:200234811"
variation 3088
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:368847353"
variation 3094
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:143904429"
variation 3099
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:371401904"
variation 3108
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:151289792"
variation 3145
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:140480428"
variation 3174
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375372514"
exon 3234..3290
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 3273
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:375398229"
variation 3274
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370198555"
variation 3286
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373086431"
exon 3291..3854
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 3312
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200690461"
variation 3362
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:139355504"
variation 3378
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372763512"
variation 3381
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:117986340"
variation 3385
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="t"
/db_xref="dbSNP:145236802"
variation 3414
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:140476504"
variation 3429
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:199593222"
variation 3508
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:149168551"
variation 3509
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:146313083"
variation 3523
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:202044129"
variation 3537
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:147876912"
variation 3548
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:374171552"
variation 3553
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:370224796"
variation 3573
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:199639600"
variation 3574
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:199561930"
variation 3584
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:377719958"
variation 3588
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:371435040"
variation 3592
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375543311"
variation 3686
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372500057"
variation 3695
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:201756166"
variation 3698
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:373899614"
variation 3719
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368131133"
variation 3724
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:371287017"
variation 3740
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201210829"
variation 3754
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:374830056"
variation 3757
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:142227351"
variation 3761
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201897826"
variation 3762
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:146130548"
variation 3786
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148285085"
variation 3790
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150358701"
variation 3812
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:373707399"
exon 3855..4141
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 3885
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:377533573"
variation 3923
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:137965134"
variation 3940
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:186916831"
variation 3944
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:142479903"
variation 3970
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:145923995"
variation 3982
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:190164795"
variation 4044
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:138532517"
variation 4060
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="t"
/db_xref="dbSNP:199976133"
exon 4142..4230
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 4184
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:141577105"
exon 4231..4356
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 4248
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370746393"
variation 4261
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:144839449"
variation 4262
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:375343033"
exon 4357..4454
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 4359
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:187060721"
variation 4384
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:148593590"
variation 4390
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201142350"
variation 4395
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:371965364"
variation 4443
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:142915847"
exon 4455..6715
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/inference="alignment:Splign:1.39.8"
variation 4478
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="t"
/db_xref="dbSNP:150672334"
variation 4493
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373526032"
variation 4513
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:140764929"
variation 4515
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:144727715"
variation 4523
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:147913505"
variation 4540
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376885579"
variation 4543
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:141541392"
variation 4548
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:149990670"
variation 4568
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:80217393"
variation 4574
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:368921860"
variation 4606
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:77885224"
variation 4618
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:188365218"
variation 4622
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:143536518"
variation 4651
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148035229"
variation 4656
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:35605511"
variation 4668
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373155738"
variation 4695
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376931505"
variation 4750
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370792273"
variation 4751
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:181236443"
variation 4802
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:111710017"
variation 4883
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:115252503"
variation 4901
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201094763"
variation 4902
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373517636"
variation 4915
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:185045076"
variation 4919
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:201953965"
variation 4970
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:200809872"
variation 4979
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200367457"
variation 4981
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:74959149"
variation 5011
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:141511137"
variation 5012
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:150728398"
variation 5017
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:199939534"
variation 5137
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:189902549"
variation 5140
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201719770"
variation 5164
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:111828689"
variation 5168
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373934878"
variation 5171
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368097946"
variation 5194
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1058034"
variation 5206
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201171142"
variation 5216
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368645606"
variation 5258
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372628467"
variation 5293
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:1058035"
variation 5298
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138310317"
variation 5317
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372474543"
variation 5340
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:149640676"
variation 5371
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:144315355"
variation 5375
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:140909289"
variation 5378
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:144871720"
variation 5384
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:147477523"
variation 5390
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="t"
/db_xref="dbSNP:376791502"
variation 5393
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="t"
/db_xref="dbSNP:182321895"
variation 5420
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:140014560"
variation 5432
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:199718666"
variation 5447
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:149720943"
variation 5465
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:201131781"
variation 5525
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:112746071"
variation 5540
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200060622"
variation 5613
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372594910"
variation 5621
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:79518617"
variation 5625
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:117789844"
variation 5642
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:149960021"
variation 5648
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:375707030"
variation 5655
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371472598"
variation 5666
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:146529717"
variation 5683
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201672288"
variation 5705
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369015069"
variation 5707
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:373321803"
variation 5709
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:141008044"
variation 5735
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370681615"
variation 5736
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:145540034"
variation 5737
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373230792"
variation 5741
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201098096"
variation 5779
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:138578796"
variation 5780
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376480805"
variation 5803
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:370922692"
variation 5805
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:374000573"
variation 5834
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200587089"
variation 5876
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="c"
/db_xref="dbSNP:199648604"
variation 5901
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:140297932"
variation 5917
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201518949"
variation 6030
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:148539258"
variation 6073
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:76154216"
variation 6168..6169
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace=""
/replace="gtaa"
/db_xref="dbSNP:375726531"
variation 6230
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:200957903"
variation 6231
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace=""
/replace="t"
/db_xref="dbSNP:35249094"
variation 6245..6246
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace=""
/replace="t"
/db_xref="dbSNP:71821584"
variation 6245
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace=""
/replace="a"
/db_xref="dbSNP:372095762"
variation 6256
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="t"
/db_xref="dbSNP:142854584"
variation 6323..6324
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace=""
/replace="t"
/db_xref="dbSNP:370763171"
variation 6337
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="g"
/replace="t"
/db_xref="dbSNP:192379612"
variation 6443
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:183237096"
variation 6463
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="a"
/replace="g"
/db_xref="dbSNP:374749501"
STS 6563..6688
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/standard_name="WI-16208"
/db_xref="UniSTS:8357"
STS 6566..6688
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/standard_name="RH78854"
/db_xref="UniSTS:8358"
variation 6591
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
/replace="c"
/replace="g"
/db_xref="dbSNP:62486628"
polyA_signal 6690..6695
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
polyA_site 6715
/gene="KMT2E"
/gene_synonym="HDCMC04P; MLL5"
ORIGIN
cgccgccattttcccagagcgagaggcagtgacactgagcgggcgcagggggccgagtcggagaccgtgccggagttcgggagcggcaacagagtgggcatagacactccgagcagcctcgccgtcgtctctgcgttcctgttgactgcctggctgccccctcccctactcctcggttcctggtgaagaggctgcgcgctgctgtttggggagggggtgtgtggagccgggtcctgtgtccgcagtggctgctgtcggggggtcgcctgttcgcggaggtgcggagagactccttgggggtcgagcactgtggctggcatgccccagtgttttggataccaatgcataggactccatagtaatcgaatttaccagaggcgaacgtcatgagcatagtgatcccattgggggttgatacagcagagacgtcatacttggaaatggctgcaggttcagaaccagaatccgtagaagctagccctgtggtagttgagaaatccaacagttatccccaccagttatataccagcagctcacatcattcacacagttacattggtttgccctatgcggaccataattatggtgctcgtcctcctccgacacctccggcttcccctcctccatcagtccttattagcaaaaatgaagtaggcatatttaccactcctaattttgatgaaacttccagtgctactacaatcagcacatctgaggatggaagttatggtactgatgtaaccaggtgcatatgtggttttacacatgatgatggatacatgatctgttgtgacaaatgcagcgtttggcaacatattgactgcatggggattgataggcagcatattcctgatacatatctatgtgaacgttgtcagcctaggaatttggataaagagagggcagtgctactacaacgccggaaaagggaaaatatgtcagatggtgataccagtgcaactgagagtggtgatgaggttcctgtggaattatatactgcatttcagcatactccaacatcaattactttaactgcttcaagagtttccaaagttaatgataaaagaaggaaaaaaagcggggagaaagaacaacacatttcaaaatgtaaaaaggcatttcgtgaaggatctaggaagtcatcaagagttaagggttcagctccagagattgatccttcatctgatggttcaaattttggatgggagacaaagatcaaagcatggatggatcgatatgaagaagcaaataacaaccagtacagtgagggtgttcagagggaggcacaaagaatagctctgagattaggcaatggaaatgacaaaaaagagatgaataaatccgatttgaataccaacaatttgctcttcaaacctcctgtagagagccatatacaaaagaataagaaaattcttaaatctgcaaaagatttgcctcctgatgcacttatcattgaatacagagggaagtttatgctgagagaacagtttgaagcaaatgggtatttctttaaaagaccatacccttttgtgttattctactctaaatttcatgggctagaaatgtgtgttgatgcaaggacttttgggaatgaggctcgattcatcaggcggtcttgtacacccaatgcagaggtgaggcatgaaattcaagatggaaccatacatctttatatttattctatacacagtattccaaagggaactgaaattactattgcctttgattttgactatggaaattgtaagtacaaggtggactgtgcatgcctcaaagaaaacccagagtgccctgttctaaaacgtagttctgaatccatggaaaatatcaatagtggttatgagaccagacggaaaaaaggaaaaaaagacaaagatatttcaaaagaaaaagatacacaaaatcagaatattactttggattgtgaaggaacgaccaacaaaatgaagagcccagaaactaaacaaagaaagctttctccactgagactatcagtatcaaataatcaggaaccagattttattgatgatatagaagaaaaaactcctattagtaatgaagtagaaatggaatcagaggagcagattgcagaaaggaaaaggaagatgacaagagaagaaagaaaaatggaagcaattttgcaagcttttgccagacttgaaaagagagagaaaagaagagaacaagctttggaaaggatcagcacagccaaaactgaagttaaaactgaatgtaaagatacacagattgtcagtgatgctgaagttattcaggaacaagcaaaagaagaaaatgctagcaagccaacccctgccaaagtaaatagaactaaacagagaaaaagtttttctcggagtaggactcacattggacagcagcgtcggagacacagaactgtcagcatgtgttcagatatccagccatcttctcctgatatagaagttacttcacaacaaaatgatattgaaaatactgtacttacaatagaaccagaaactgaaactgcactagcagaaataattactgaaactgaagttccagcacttaataaatgtcctaccaagtaccccaaaacaaagaagcacttggttaatgaatggttaagtgagaagaatgagaagacaggaaaaccttcagatggcctttcagaaaggcctctacgcataactacagatcctgaagtgttagctacacaactcaattctttaccaggtctcacttacagcccccatgtatactccactcctaagcattatattagatttacttcaccattcctttcagaaaaaaggagaagaaaagaacctactgaaaacatttctggttcatgcaagaagcgatggttgaaacaagctctggaagaagaaaattcagcaattttacatagatttaattcaccctgtcaagaaagatccagaagtcctgcagtcaatggtgaaaataaaagtccactactattaaatgacagctgttcccttccagatttaactacaccactaaaaaaacgaagattttatcagttgctagattcggtttactcagaaacctccacacctactccttccccgtatgctacaccaactcacaccgatattactcctatggacccatcttttgccacgcctccacggataaaatcagatgatgaaacttgtagaaatggttataaacccatatattcaccagttaccccagtaactcctggtacaccaggaaataccatgcactttgagaatatttcttccccagaaagttctccagaaataaagagacgcacttatagtcaagagggatatgacagatcttcaaccatgttaacattggggccttttagaaattctaatttaactgaactgggtctgcaagaaataaagactattggttatacgagccctaggagtaggactgaagtcaacaggcagtgtcctggagaaaaggaacctgtgtcagaccttcagctaggactcgatgcagttgagccaactgccctacataaaaccctggaaacgcctgcacatgacagggctgagcccaacagccaactggactcgactcactctggacggggcacaatgtattcttcctgggtaaagagccctgacagaacaggagttaacttctcagtgaactccaacttgagggacctgacaccctcgcatcagttggaggttggaggaggcttccgaataagtgagtcaaagtgcctgatgcaggatgatactagaggcatgtttatggaaacaactgtgttttgtacttccgaagatgggcttgtatctggtttcggacggactgttaatgacaatttgatcgacgggaattgcacaccccagaatccaccacaaaagaaaaaggtttctctattagaataccgtaagagacaacgtgaagctaggaaaagtggctctaagacagagaactttccactcattagtgtatcaccccatgcaagtggaagcttgagcaacaatggtgatggctgtgccagcagtaatgacaatggggagcaggtggaccacactgctagcctacctttaccaacaccagctacagtttataatgccacttctgaagaaactagcaataactgccctgttaaggatgctactgctagtgagaagaatgaaccagaagttcaatggactgcctcaacttcagtggaacaagtcagagaaaggagttatcagagagctttacttctcagtgatcaccgaaaagataaagatagtgggggagaatcaccatgtgtctcatgttcaccgagtcatgttcagtcttcaccttcatctcattcaaatcacataccccagttgcaagctaagggcccagtcccttctttcagtgaacttatggaagaccctgatcctgaaaatccagaacccacaactacgaatgaatgtccatccccagatacttctcaaaatacttgtaaaagtcctccaaaaatgagcaagcctggttcacctggatctgtaattcctgctcaagcacacgggaaaatattcacaaaaccagatccccaatgggactccacagttagtgcatccgaagctgaaaatggtgttcacctaaaaacagagctccaacaaaaacagctatcaaataacaaccaagcactttcaaagaatcatcctcctcagacacacgttcgtaattcatctgagcaactttcacaaaagctgccttctgtgccaacaaagttgcactgtcctccatcacctcacctagaaaatcctccaaagtcatccacgcctcacacacctgtacagcatggttatctttcaccaaagcctccttcacagcagttaggatctccctacaggcctcatcattcacagtcacctcaagttggaacacctcagcgagagcctcaaagaaacttttatccagcagcacagaaccttccagccaatactcagcaggcaacttctggaacattatttacacagacaccctcaggacaatcttcagcaacatacagtcagtttaaccaacaaagtctgaacagcacggcaccaccccctccacctcctccacctccttcttcgtcttactatcaaaaccagcagccctctgcaaactttcagaattataatcagctcaaaggtagtctttctcaacaaactgtgtttacatcaggaccaaatcaagcacttcctggcaccacaagccagcaaacagttccaggacaccacgtgactccagggcattttttgccctctcagaaccctaccattcaccatcaaactgctgctgccgtagtcccccctcctcctccaccaccacctgctccaggaccgcaccttgtacaacagccgaattcccatcagcaacactctgtagcacatgtagtagggcctgttcatgcggtcacccctgggtcgcatattcattctcaaactgctggacaccacttacccccacccccaccccctcctggtcctgcccctcatcaccatccaccaccccatccatccacaggactccaaggtctacaagcacaacaccagcatgttgtaaattcagcacccccaccaccccctccgccgccaccttccagtgttttggcttctgggcatcataccacatcagctcaagccttacaccacccacctcatcaaggacctccactttttccttcgagtgctcatccaactgtaccaccgtatccctcacaagctacacatcataccactttgggaccgggaccccagcaccagccttctggaacagggccacattgtccattacctgtcacaggtcctcatctccagccccaaggaccaaacagtattccaacacctactgcttcagggttctgtcctcatcctggctctgtggccctgccacatggggttcaaggacctcagcaggcatctccagtgcctggacagattccaattcacagagcacaggtgccaccaacatttcaaaacaattaccatgggtcagggtggcattaaaatggactccaaaaacatttttttaaatgttctgtaagataaactgtatatttcatatgtacctgttaaggtactttttaaagcttgtacatgaacctttgtataaaaaacaccagtgctctttcgttgtatttttctcatttttgctttttaaaattcctttaaaaaatgtgctgttaagccagtattaggtatctttattttgtaagtgaacattccagctgtttttttctggcagatctgatgctgatttgatgctgtatgatcttttttttttttttagttaaattcatttagtgaatgttctattattttatacatacacattaagtactcagctaagtaatggcactatgaggattttttttttctttcctgtcagcagcagttctgtgaatgcatcttaggtataaaaatgcaatacagatttttatattttggtgtggacatggctcattttgttttaccagttatttgcaagcaaaatgtaatttaatgtatagatgatttctaatgtctcctgacaaactgtaaatactgcatttcttttgcgtatataattgcttacagcttttctcatttgatatatagcattgtacatatgacaagtcttttgcaaaactgtgtgatctttgtgaaagtagtacagtatatgacctttaatttcttttttattttaaatatactgtcacactgaagcactggttgggcattttaattcatgttaataaatcacaattatgtcagttttaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:55904 -> Molecular function: GO:0003713 [transcription coactivator activity] evidence: IMP
GeneID:55904 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:55904 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:55904 -> Molecular function: GO:0019899 [enzyme binding] evidence: IPI
GeneID:55904 -> Molecular function: GO:0042800 [histone methyltransferase activity (H3-K4 specific)] evidence: IDA
GeneID:55904 -> Biological process: GO:0002446 [neutrophil mediated immunity] evidence: ISS
GeneID:55904 -> Biological process: GO:0006306 [DNA methylation] evidence: ISS
GeneID:55904 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:55904 -> Biological process: GO:0007050 [cell cycle arrest] evidence: IEA
GeneID:55904 -> Biological process: GO:0030218 [erythrocyte differentiation] evidence: ISS
GeneID:55904 -> Biological process: GO:0030854 [positive regulation of granulocyte differentiation] evidence: IMP
GeneID:55904 -> Biological process: GO:0042119 [neutrophil activation] evidence: ISS
GeneID:55904 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IMP
GeneID:55904 -> Biological process: GO:0048384 [retinoic acid receptor signaling pathway] evidence: IMP
GeneID:55904 -> Biological process: GO:0051568 [histone H3-K4 methylation] evidence: IDA
GeneID:55904 -> Biological process: GO:0071300 [cellular response to retinoic acid] evidence: IDA
GeneID:55904 -> Cellular component: GO:0016607 [nuclear speck] evidence: IEA
GeneID:55904 -> Cellular component: GO:0070688 [MLL5-L complex] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_061152 -> EC 2.1.1.43
by
@meso_cacase at
DBCLS
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