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2024-04-17 02:50:06, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_015478 3205 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript
variant I, mRNA.
ACCESSION NM_015478
VERSION NM_015478.6 GI:306482603
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 3205)
AUTHORS Zeng,H., Irwin,M.L., Lu,L., Risch,H., Mayne,S., Mu,L., Deng,Q.,
Scarampi,L., Mitidieri,M., Katsaros,D. and Yu,H.
TITLE Physical activity and breast cancer survival: an epigenetic link
through reduced methylation of a tumor suppressor gene L3MBTL1
JOURNAL Breast Cancer Res. Treat. 133 (1), 127-135 (2012)
PUBMED 21837478
REMARK GeneRIF: High expression of L3MBTL1 was associated with low grade
and hormone receptor-positive tumors, as well as low risk of
disease recurrence and breast cancer death.
REFERENCE 2 (bases 1 to 3205)
AUTHORS Hoya-Arias,R., Tomishima,M., Perna,F., Voza,F. and Nimer,S.D.
TITLE L3MBTL1 deficiency directs the differentiation of human embryonic
stem cells toward trophectoderm
JOURNAL Stem Cells Dev. 20 (11), 1889-1900 (2011)
PUBMED 21341991
REMARK GeneRIF: depletion of L3MBTL1 does not affect hESC self-renewal,
rather it enhances differentiation toward extra-embryonic
trophoblast tissues
REFERENCE 3 (bases 1 to 3205)
AUTHORS Gurvich,N., Perna,F., Farina,A., Voza,F., Menendez,S., Hurwitz,J.
and Nimer,S.D.
TITLE L3MBTL1 polycomb protein, a candidate tumor suppressor in
del(20q12) myeloid disorders, is essential for genome stability
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 107 (52), 22552-22557 (2010)
PUBMED 21149733
REMARK GeneRIF: Data suggest that the loss of L3MBTL1 contributes to the
development of 20q(-) hematopoietic malignancies by inducing
replicative stress, DNA damage, and genomic instability.
REFERENCE 4 (bases 1 to 3205)
AUTHORS West,L.E., Roy,S., Lachmi-Weiner,K., Hayashi,R., Shi,X.,
Appella,E., Kutateladze,T.G. and Gozani,O.
TITLE The MBT repeats of L3MBTL1 link SET8-mediated p53 methylation at
lysine 382 to target gene repression
JOURNAL J. Biol. Chem. 285 (48), 37725-37732 (2010)
PUBMED 20870725
REMARK GeneRIF: SET8-mediated methylation of p53 at Lys-382 promotes the
interaction between L3MBTL1 and p53 in cells.
REFERENCE 5 (bases 1 to 3205)
AUTHORS Perna,F., Gurvich,N., Hoya-Arias,R., Abdel-Wahab,O., Levine,R.L.,
Asai,T., Voza,F., Menendez,S., Wang,L., Liu,F., Zhao,X. and
Nimer,S.D.
TITLE Depletion of L3MBTL1 promotes the erythroid differentiation of
human hematopoietic progenitor cells: possible role in 20q-
polycythemia vera
JOURNAL Blood 116 (15), 2812-2821 (2010)
PUBMED 20585043
REMARK GeneRIF: haploinsufficiency of L3MBTL1 contributes to some (20q-)
myeloproliferative neoplasms, especially polycythemia vera, by
promoting erythroid differentiation
REFERENCE 6 (bases 1 to 3205)
AUTHORS MacGrogan,D., Kalakonda,N., Alvarez,S., Scandura,J.M., Boccuni,P.,
Johansson,B. and Nimer,S.D.
TITLE Structural integrity and expression of the L3MBTL gene in normal
and malignant hematopoietic cells
JOURNAL Genes Chromosomes Cancer 41 (3), 203-213 (2004)
PUBMED 15334543
REMARK GeneRIF: L3MBTL may have a role in myeloid leukemia
REFERENCE 7 (bases 1 to 3205)
AUTHORS Li,J., Bench,A.J., Vassiliou,G.S., Fourouclas,N.,
Ferguson-Smith,A.C. and Green,A.R.
TITLE Imprinting of the human L3MBTL gene, a polycomb family member
located in a region of chromosome 20 deleted in human myeloid
malignancies
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (19), 7341-7346 (2004)
PUBMED 15123827
REMARK GeneRIF: represents a previously undescribed imprinted locus, a
vertebrate Polycomb group gene shown to be regulated by this
mechanism, and has implications for the pathogenesis of myeloid
malignancies associated with 20q deletions
REFERENCE 8 (bases 1 to 3205)
AUTHORS Wang,W.K., Tereshko,V., Boccuni,P., MacGrogan,D., Nimer,S.D. and
Patel,D.J.
TITLE Malignant brain tumor repeats: a three-leaved propeller
architecture with ligand/peptide binding pockets
JOURNAL Structure 11 (7), 775-789 (2003)
PUBMED 12842041
REFERENCE 9 (bases 1 to 3205)
AUTHORS Boccuni,P., MacGrogan,D., Scandura,J.M. and Nimer,S.D.
TITLE The human L(3)MBT polycomb group protein is a transcriptional
repressor and interacts physically and functionally with TEL (ETV6)
JOURNAL J. Biol. Chem. 278 (17), 15412-15420 (2003)
PUBMED 12588862
REMARK GeneRIF: The ability of TEL to repress TEL-responsive promoters is
enhanced by the presence of H-L(3)MBT, an effect dependent on the
H-L(3)MBT and the TEL interacting domains, which are mapped to
their respective SPM/SAM domains.
REFERENCE 10 (bases 1 to 3205)
AUTHORS Koga,H., Matsui,S., Hirota,T., Takebayashi,S., Okumura,K. and
Saya,H.
TITLE A human homolog of Drosophila lethal(3)malignant brain tumor
(l(3)mbt) protein associates with condensed mitotic chromosomes
JOURNAL Oncogene 18 (26), 3799-3809 (1999)
PUBMED 10445843
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK310345.1, BC039820.1,
BG956397.1 and BU741824.1.
This sequence is a reference standard in the RefSeqGene project.
On Sep 9, 2010 this sequence version replaced gi:117938327.
Summary: This gene represents a polycomb group gene. The encoded
protein functions to regulate gene activity, likely via chromatin
modification. The encoded protein may also be necessary for
mitosis. Alternatively spliced transcript variants encoding
different isoforms have been identified.[provided by RefSeq, Sep
2010].
Transcript Variant: This variant (I) differs in the 5' UTR, lacks a
portion of the 5' coding region, and initiates translation at a
downstream start codon, compared to variant II. The encoded isoform
(I) is shorter than isoform II.
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 :: BC039820.1 [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
1-255 AK310345.1 1-255
256-2489 BC039820.1 171-2404
2490-2513 BG956397.1 106-129
2514-3205 BU741824.1 8-699 c
FEATURES Location/Qualifiers
source 1..3205
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="20"
/map="20q13.12"
gene 1..3205
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/note="l(3)mbt-like 1 (Drosophila)"
/db_xref="GeneID:26013"
/db_xref="HGNC:15905"
/db_xref="MIM:608802"
exon 1..341
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 12
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:182487473"
variation 16
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:187181239"
variation 52
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:139826927"
misc_feature 101..103
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/note="upstream in-frame stop codon"
variation 106
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="t"
/db_xref="dbSNP:376452961"
variation 107
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369072001"
CDS 110..2428
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/note="isoform I is encoded by transcript variant I;
lethal(3)malignant brain tumor-like protein 1; lethal (3)
malignant brain tumor l(3); l(3)mbt protein homolog"
/codon_start=1
/product="lethal(3)malignant brain tumor-like protein 1
isoform I"
/protein_id="NP_056293.4"
/db_xref="GI:117938328"
/db_xref="CCDS:CCDS13319.1"
/db_xref="GeneID:26013"
/db_xref="HGNC:15905"
/db_xref="MIM:608802"
/translation="
MRRREGHGTDSEMGQGPVRESQSSDPPALQFRISEYKPLNMAGVEQPPSPELRQEGVTEYEDGGAPAGDGEAGPQQAEDHPQNPPEDPNQDPPEDDSTCQCQACGPHQAAGPDLGSSNDGCPQLFQERSVIVENSSGSTSASELLKPMKKRKRREYQSPSEEESEPEAMEKQEEGKDPEGQPTASTPESEEWSSSQPATGEKKECWSWESYLEEQKAITAPVSLFQDSQAVTHNKNGFKLGMKLEGIDPQHPSMYFILTVAEVCGYRLRLHFDGYSECHDFWVNANSPDIHPAGWFEKTGHKLQPPKGYKEEEFSWSQYLRSTRAQAAPKHLFVSQSHSPPPLGFQVGMKLEAVDRMNPSLVCVASVTDVVDSRFLVHFDNWDDTYDYWCDPSSPYIHPVGWCQKQGKPLTPPQDYPDPDNFCWEKYLEETGASAVPTWAFKVRPPHSFLVNMKLEAVDRRNPALIRVASVEDVEDHRIKIHFDGWSHGYDFWIDADHPDIHPAGWCSKTGHPLQPPLGPREPSSASPGGCPPLSYRSLPHTRTSKYSFHHRKCPTPGCDGSGHVTGKFTAHHCLSGCPLAERNQSRLKAELSDSEASARKKNLSGFSPRKKPRHHGRIGRPPKYRKIPQEDFQTLTPDVVHQSLFMSALSAHPDRSLSVCWEQHCKLLPGVAGISASTVAKWTIDEVFGFVQTLTGCEDQARLFKDEARIVRVTHVSGKTLVWTVAQLGDLVCSDHLQEGKGILETGVHSLLCSLPTHLLAKLSFASDSQY
"
misc_feature 725..1027
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y468.3);
Region: MBT 1"
misc_feature 734..1027
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/note="Present in Drosophila Scm, l(3)mbt, and vertebrate
SCML2; Region: MBT; smart00561"
/db_xref="CDD:197790"
misc_feature 1049..1348
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y468.3);
Region: MBT 2"
misc_feature 1058..1348
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/note="Present in Drosophila Scm, l(3)mbt, and vertebrate
SCML2; Region: MBT; smart00561"
/db_xref="CDD:197790"
misc_feature 1172..1174
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/experiment="experimental evidence, no additional details
recorded"
/note="Mediates recognition of monomethylated and
dimethylated peptides; propagated from
UniProtKB/Swiss-Prot (Q9Y468.3); other site"
misc_feature 1181..1183
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/experiment="experimental evidence, no additional details
recorded"
/note="positioned at the entrance of MBT 2 and is required
for recognition of monomethylated and dimethylated
peptides; propagated from UniProtKB/Swiss-Prot (Q9Y468.3);
other site"
misc_feature 1244..1267
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y468.3);
Region: Interaction with monomethylated and dimethylated
peptides"
misc_feature 1373..1660
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y468.3);
Region: MBT 3"
misc_feature 1382..1660
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/note="Present in Drosophila Scm, l(3)mbt, and vertebrate
SCML2; Region: MBT; smart00561"
/db_xref="CDD:197790"
misc_feature 1763..1852
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/note="Zinc finger, C2HC type; Region: zf-C2HC; pfam01530"
/db_xref="CDD:201844"
misc_feature 2147..>2233
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/note="SAM (Sterile alpha motif ); Region:
SAM_superfamily; cl15755"
/db_xref="CDD:210155"
variation 117
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373307596"
variation 126
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:191883642"
variation 136
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:185208338"
variation 143
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:201751468"
variation 157
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200654259"
variation 165
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376613838"
variation 171
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372007073"
variation 175
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369603908"
variation 191
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:147407921"
variation 193
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200054978"
variation 234
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375102806"
variation 255
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:17857202"
variation 260
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369771334"
variation 283
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371999326"
variation 300
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201702857"
variation 320
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:193121965"
variation 330
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200467755"
exon 342..492
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 352
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:35155748"
variation 369
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="t"
/db_xref="dbSNP:201310287"
variation 385
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372131164"
variation 387
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:145308329"
variation 391
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:372315113"
variation 408
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:151004462"
variation 411
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:139481375"
variation 459
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374255054"
variation 470
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:368664102"
variation 477
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:149664498"
exon 493..616
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 497
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:145435727"
variation 521
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:8183462"
variation 532
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:140293563"
variation 580
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:145310745"
variation 613..614
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace=""
/replace="c"
/db_xref="dbSNP:34984239"
exon 617..701
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 641
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:146854145"
variation 669
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:376163134"
variation 676
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:140650952"
variation 677
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377226113"
exon 702..790
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 729
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:143835872"
variation 737
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:374007728"
variation 753
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377244946"
variation 779
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:199687556"
variation 785
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:376009587"
variation 790
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:201459036"
exon 791..895
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 811
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:201774104"
variation 862
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:148163845"
variation 865
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:371655802"
exon 896..1031
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 909
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376109118"
variation 915
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141863812"
STS 986..1836
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/standard_name="L3mbtl1"
/db_xref="UniSTS:547255"
variation 998
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:75471272"
variation 1000
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201018207"
variation 1018
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:144824191"
exon 1032..1123
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 1056
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200649862"
variation 1108
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371688036"
exon 1124..1275
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 1133
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200425443"
variation 1159
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:199592665"
variation 1161
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:150354613"
variation 1185
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:377493639"
variation 1186
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201765532"
variation 1229
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:370621203"
variation 1254
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:150194410"
variation 1255
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:199710711"
variation 1266
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="t"
/db_xref="dbSNP:201841566"
variation 1267
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:201640833"
exon 1276..1352
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 1280
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:200674465"
variation 1294
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:140712970"
variation 1297
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:201874750"
variation 1342
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="c"
/db_xref="dbSNP:200016342"
exon 1353..1438
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 1356
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143129523"
variation 1372
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:147476830"
variation 1377
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:201251426"
variation 1397
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:372862587"
variation 1435
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:139693776"
exon 1439..1549
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 1452
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:190173382"
variation 1464
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:144187591"
variation 1467
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:374569088"
variation 1488
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377371886"
variation 1511
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369441284"
variation 1519
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373936477"
variation 1520
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:148690220"
variation 1546
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:6017104"
exon 1550..1664
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 1594
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:151147054"
variation 1610
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="t"
/db_xref="dbSNP:368489136"
variation 1612
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371879010"
variation 1622
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:139062449"
exon 1665..1764
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 1674
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:372685377"
variation 1689
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:145495950"
variation 1703
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:376467003"
variation 1730
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:144057381"
variation 1736
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201339937"
variation 1744..1745
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace=""
/replace="c"
/db_xref="dbSNP:34844144"
exon 1765..1962
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 1775
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="t"
/db_xref="dbSNP:369954577"
variation 1786
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:146449149"
variation 1790
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:373335049"
variation 1819
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:3746527"
variation 1828
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375750358"
variation 1857
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:35845394"
variation 1869
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:145295216"
variation 1879
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370359049"
variation 1881..1882
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace=""
/replace="a"
/db_xref="dbSNP:35719428"
variation 1905
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:112419239"
variation 1907
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:375735175"
variation 1908
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370267982"
variation 1934
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200928423"
variation 1960
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373996161"
exon 1963..2012
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 1970
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:368201223"
variation 1978
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:149221270"
variation 1984
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372822541"
variation 1986
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143376857"
variation 1996
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:375902103"
variation 2000
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:367711004"
exon 2013..2170
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 2014
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:367598049"
variation 2019
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371775266"
variation 2023
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:368743623"
variation 2029
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:374857830"
variation 2061
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:35266539"
variation 2075
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:144951279"
variation 2076
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200372314"
variation 2101
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:117358971"
variation 2128
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201995759"
variation 2132
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376942943"
variation 2161
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141522529"
exon 2171..2233
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 2196
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:377597708"
variation 2230
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:377279389"
variation 2231
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:374218279"
exon 2234..3195
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/inference="alignment:Splign:1.39.8"
variation 2235
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="c"
/db_xref="dbSNP:368179235"
variation 2238
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:199793447"
variation 2249
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:76363655"
variation 2251
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:138387739"
variation 2258
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376474645"
variation 2273
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:61736753"
variation 2284
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:369320913"
variation 2303
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:6124571"
variation 2304
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="g"
/replace="t"
/db_xref="dbSNP:373550426"
variation 2358
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="t"
/db_xref="dbSNP:150564461"
variation 2385
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:6030948"
variation 2435
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:376792567"
variation 2460
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="g"
/db_xref="dbSNP:200273004"
variation 2473
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369631657"
variation 2514
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:117851581"
variation 2517
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:6124572"
variation 2545
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:112959405"
variation 2609
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:371291388"
variation 2679
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:117829136"
variation 2754
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:367725477"
variation 2779
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372686193"
variation 2786
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:151245682"
variation 2885
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:41303815"
variation 2987
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="c"
/replace="t"
/db_xref="dbSNP:1062943"
STS 3014..3188
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/standard_name="D20S721"
/db_xref="UniSTS:22016"
STS 3055..3170
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/standard_name="SHGC-24255"
/db_xref="UniSTS:75777"
variation 3076
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="g"
/db_xref="dbSNP:41303927"
polyA_signal 3172..3177
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
variation 3174
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
/replace="a"
/replace="t"
/db_xref="dbSNP:369730086"
polyA_site 3195
/gene="L3MBTL1"
/gene_synonym="dJ138B7.3; H-L(3)MBT; L3MBTL; ZC2HC3"
ORIGIN
accccgcaggtgcttgggggcgtagcctggagtgagggtttggctggtgtagcttggagtgaggccccctggcgtggagtcttgaggcctgctgagggcgtgagctggcatgaggcgaagagagggccatggcaccgactccgagatgggtcaaggacccgtacgggagtcgcaatcctcagaccctcccgcgctccagttccggataagcgagtataagccgctgaacatggcgggagtggagcagcccccgagccccgagctgcggcaggaaggcgtgaccgaatacgaagatggcggggccccggcgggagatggcgaggcgggcccccaacaggcggaggaccacccccagaatcctccagaagatcccaatcaggaccccccagaggatgatagcacctgtcagtgccaggcgtgcgggcctcaccaagccgcgggtccagatcttggttcctctaatgatggctgccctcagctgttccaggagcggtcagtcatagtggagaactcctcaggctctaccagcgcttctgagctcctcaaacccatgaagaagaggaagcgcagggaataccagagcccatcagaggaggagtcggagccagaggccatggagaagcaagaagaaggaaaggacccagagggacaacccactgctagcaccccagagagtgaggagtggagcagcagccagcctgcaacaggtgagaagaaggaatgctggtcgtgggagtcctacctagaggagcagaaggccattactgctccagtcagcctcttccaggactcccaggcagtcactcacaacaagaatggcttcaaactgggcatgaagttggaaggcattgaccctcaacacccgtccatgtacttcatcctcaccgtggctgaggtatgtggctatcgcctacgcctgcactttgatgggtattctgagtgccatgacttctgggtcaatgccaactcccctgacattcaccctgctggctggttcgagaagacgggccacaagctgcagcctcccaaaggttacaaggaggaggagttcagctggagccagtacctgcgcagcacaagagctcaggctgcccccaagcacctgtttgtgagccagagccacagtcccccacccctgggcttccaggtgggcatgaagctggaggctgttgaccgcatgaacccgtcccttgtctgcgtggccagtgtgaccgatgtggtggacagccgcttcctggtgcactttgacaactgggatgatacttatgactactggtgtgatcccagcagcccctacatccacccagtgggctggtgccagaagcaaggaaagcccctcacccctccacaagactacccagaccctgataacttctgttgggagaaatatctggaagaaactggggcctctgctgtccccacctgggccttcaaggtgcgaccccctcacagcttcctggtcaatatgaagctggaggctgtggaccgcaggaacccagccctgattcgcgtggccagcgtggaggatgtggaggaccatcggataaagatccactttgatggctggagtcatggctatgatttctggatcgacgctgaccacccagacatccaccctgccggctggtgctccaagacaggacatcccctgcagcctcctctcggacccagagagcccagctctgcctcccctgggggctgtccccctctcagctataggagcctgccccacactaggacctccaaatacagctttcaccaccggaagtgccccactcctggttgcgacggctctggccatgtcacaggcaagttcacagctcaccattgcctctcaggctgcccactggctgagaggaaccagagccggctgaaagcggagctgtctgactcggaggcctcagcccgcaagaagaacctctcaggcttctccccaaggaagaagcctcgccatcacggccgaattggacgccctccgaagtatcgaaagattccgcaggaagatttccagaccctcacgcccgatgtcgtgcaccagtccctcttcatgtcagccctgtcggcccaccctgaccgctcactctcagtgtgctgggagcagcactgcaagctcctgccaggagtagcgggcatctcagcctcgacagtcgccaagtggaccatcgatgaggtcttcggctttgttcagaccctgacaggttgtgaggaccaagcacgcctcttcaaagacgaggcaagaatagtcagagtgacccatgtatctgggaagactctagtctggactgtggcccagcttggggaccttgtgtgctcagatcatcttcaggaaggaaaaggcatcctggagacaggagtccattcactcctctgctctctacccactcatttgcttgccaaacttagctttgccagtgatagtcaatattaaagtgtacttttttcccctttaatccaatatagttgataattaaagtgtattttgaatgacacagatattgtgatttactgcaaggatcctaacacacacttaaaatcaagagccaaggagtagtgagttgtagataaaaaaagaatgtcagctttggagacagtctgggtttaaatcccagttctgtcaatttgagctgtttactgtctctgagcctacatcttcttgtctgtaaaatggagataaaatgggtttaatgaggtctaccttgcagagccattgtgagcattggaaatgatgaatgaatcataccagaacgtctagtataattacagtcatgcattgcttaacgatggggatacattcttagaaatgtgtcactaggcaattctgtcattgtgtaaacattatagaatgtacttacacaaacctagatgttatatgtatttttatttacatgtatattttcacatgaaataccaaatgtcacagcattattactgaatgtcagtcatttcccctacttgatctgcaatgccaatatcaagggccatgtatcaggtttctgtatatgttccactataatcttatgggaccatggttttaaatgtggaatcattgacagaaatgtctttatgtagcatatggctgtgtatcactagtatataatagagcaatattatggaggaatatgtagatccaatcactttacctatacaaaatgactgctatggtgggaacacaataaacaccagttttgacttttaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:26013 -> Molecular function: GO:0003682 [chromatin binding] evidence: IDA
GeneID:26013 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:26013 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:26013 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:26013 -> Molecular function: GO:0031491 [nucleosome binding] evidence: IDA
GeneID:26013 -> Molecular function: GO:0031493 [nucleosomal histone binding] evidence: IDA
GeneID:26013 -> Molecular function: GO:0032093 [SAM domain binding] evidence: IPI
GeneID:26013 -> Molecular function: GO:0035064 [methylated histone residue binding] evidence: IDA
GeneID:26013 -> Molecular function: GO:0035064 [methylated histone residue binding] evidence: IPI
GeneID:26013 -> Molecular function: GO:0042393 [histone binding] evidence: IPI
GeneID:26013 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI
GeneID:26013 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:26013 -> Biological process: GO:0007088 [regulation of mitosis] evidence: IMP
GeneID:26013 -> Biological process: GO:0016568 [chromatin modification] evidence: IDA
GeneID:26013 -> Biological process: GO:0030097 [hemopoiesis] evidence: IEP
GeneID:26013 -> Biological process: GO:0045652 [regulation of megakaryocyte differentiation] evidence: IDA
GeneID:26013 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IDA
GeneID:26013 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: IMP
GeneID:26013 -> Biological process: GO:0051726 [regulation of cell cycle] evidence: NAS
GeneID:26013 -> Cellular component: GO:0000785 [chromatin] evidence: IDA
GeneID:26013 -> Cellular component: GO:0000793 [condensed chromosome] evidence: IDA
GeneID:26013 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:26013 -> Cellular component: GO:0005654 [nucleoplasm] evidence: IDA
GeneID:26013 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
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@meso_cacase at
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