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2024-04-19 02:34:56, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000489 11202 bp mRNA linear PRI 19-MAY-2013
DEFINITION Homo sapiens alpha thalassemia/mental retardation syndrome X-linked
(ATRX), transcript variant 1, mRNA.
ACCESSION NM_000489
VERSION NM_000489.3 GI:130979463
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 11202)
AUTHORS Leung,J.W., Ghosal,G., Wang,W., Shen,X., Wang,J., Li,L. and Chen,J.
TITLE Alpha thalassemia/mental retardation syndrome X-linked gene product
ATRX is required for proper replication restart and cellular
resistance to replication stress
JOURNAL J. Biol. Chem. 288 (9), 6342-6350 (2013)
PUBMED 23329831
REMARK GeneRIF: Alpha thalassemia/mental retardation syndrome X-linked
gene product ATRX is required for proper replication restart and
cellular resistance to replication stress
REFERENCE 2 (bases 1 to 11202)
AUTHORS Oberg,K.
TITLE The genetics of neuroendocrine tumors
JOURNAL Semin. Oncol. 40 (1), 37-44 (2013)
PUBMED 23391111
REMARK GeneRIF: Studies indicate that mutations of the MEN-1 and ATRX/DAXX
genes in sporadic pancreatic NETs (PNETs) provided insights into
tumor development tumor development and therapy.
REFERENCE 3 (bases 1 to 11202)
AUTHORS Liu,X.Y., Gerges,N., Korshunov,A., Sabha,N., Khuong-Quang,D.A.,
Fontebasso,A.M., Fleming,A., Hadjadj,D., Schwartzentruber,J.,
Majewski,J., Dong,Z., Siegel,P., Albrecht,S., Croul,S., Jones,D.T.,
Kool,M., Tonjes,M., Reifenberger,G., Faury,D., Zadeh,G., Pfister,S.
and Jabado,N.
TITLE Frequent ATRX mutations and loss of expression in adult diffuse
astrocytic tumors carrying IDH1/IDH2 and TP53 mutations
JOURNAL Acta Neuropathol. 124 (5), 615-625 (2012)
PUBMED 22886134
REMARK GeneRIF: The data of this study showed that ATRX alterations are
frequent in adult diffuse gliomas and are specific to astrocytic
tumors carrying IDH1/2 and TP53 mutations.
REFERENCE 4 (bases 1 to 11202)
AUTHORS Kannan,K., Inagaki,A., Silber,J., Gorovets,D., Zhang,J.,
Kastenhuber,E.R., Heguy,A., Petrini,J.H., Chan,T.A. and Huse,J.T.
TITLE Whole-exome sequencing identifies ATRX mutation as a key molecular
determinant in lower-grade glioma
JOURNAL Oncotarget 3 (10), 1194-1203 (2012)
PUBMED 23104868
REMARK GeneRIF: ATRX mutation is a key molecular determinant in
lower-grade glioma.
REFERENCE 5 (bases 1 to 11202)
AUTHORS Bower,K., Napier,C.E., Cole,S.L., Dagg,R.A., Lau,L.M., Duncan,E.L.,
Moy,E.L. and Reddel,R.R.
TITLE Loss of wild-type ATRX expression in somatic cell hybrids
segregates with activation of Alternative Lengthening of Telomeres
JOURNAL PLoS ONE 7 (11), E50062 (2012)
PUBMED 23185534
REMARK GeneRIF: ATRX is a repressor of Alternative Lengthening of
Telomeres.
REFERENCE 6 (bases 1 to 11202)
AUTHORS Gibbons,R.J., Suthers,G.K., Wilkie,A.O., Buckle,V.J. and Higgs,D.R.
TITLE X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome:
localization to Xq12-q21.31 by X inactivation and linkage analysis
JOURNAL Am. J. Hum. Genet. 51 (5), 1136-1149 (1992)
PUBMED 1415255
REFERENCE 7 (bases 1 to 11202)
AUTHORS Mulley,J.C., Kerr,B., Stevenson,R. and Lubs,H.
TITLE Nomenclature guidelines for X-linked mental retardation
JOURNAL Am. J. Med. Genet. 43 (1-2), 383-391 (1992)
PUBMED 1605216
REMARK Review article
REFERENCE 8 (bases 1 to 11202)
AUTHORS Ades,L.C., Kerr,B., Turner,G. and Wise,G.
TITLE Smith-Fineman-Myers syndrome in two brothers
JOURNAL Am. J. Med. Genet. 40 (4), 467-470 (1991)
PUBMED 1684092
REFERENCE 9 (bases 1 to 11202)
AUTHORS Sutherland,G.R., Gedeon,A.K., Haan,E.A., Woodroffe,P. and
Mulley,J.C.
TITLE Linkage studies with the gene for an X-linked syndrome of mental
retardation, microcephaly and spastic diplegia (MRX2)
JOURNAL Am. J. Med. Genet. 30 (1-2), 493-508 (1988)
PUBMED 3177467
REFERENCE 10 (bases 1 to 11202)
AUTHORS Shapiro,M.B. and Senapathy,P.
TITLE RNA splice junctions of different classes of eukaryotes: sequence
statistics and functional implications in gene expression
JOURNAL Nucleic Acids Res. 15 (17), 7155-7174 (1987)
PUBMED 3658675
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA759777.1, U72937.2,
DR422800.1, BX647222.1, BE927791.1, AA484729.1, BQ189245.1,
AI733378.1, CB114986.1, BM714186.1 and AA732359.1.
This sequence is a reference standard in the RefSeqGene project.
On Mar 14, 2007 this sequence version replaced gi:20336208.
Summary: The protein encoded by this gene contains an
ATPase/helicase domain, and thus it belongs to the SWI/SNF family
of chromatin remodeling proteins. The mutations of this gene are
associated with an X-linked mental retardation (XLMR) syndrome most
often accompanied by alpha-thalassemia (ATRX) syndrome. These
mutations have been shown to cause diverse changes in the pattern
of DNA methylation, which may provide a link between chromatin
remodeling, DNA methylation, and gene expression in developmental
processes. This protein is found to undergo cell cycle-dependent
phosphorylation, which regulates its nuclear matrix and chromatin
association, and suggests its involvement in the gene regulation at
interphase and chromosomal segregation in mitosis. Multiple
alternatively spliced transcript variants encoding distinct
isoforms have been reported. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (1) encodes the longest isoform
(1).
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 :: U72937.2 [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
1-17 DA759777.1 1-17
18-7764 U72937.2 1-7747
7765-8319 DR422800.1 153-707
8320-9157 BX647222.1 6409-7246
9158-9427 BE927791.1 15-284 c
9428-9710 AA484729.1 141-423
9711-10227 BQ189245.1 41-557
10228-10680 AI733378.1 1-453 c
10681-10858 CB114986.1 349-526
10859-11067 BM714186.1 346-554
11068-11202 AA732359.1 1-135 c
FEATURES Location/Qualifiers
source 1..11202
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq21.1"
gene 1..11202
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="alpha thalassemia/mental retardation syndrome
X-linked"
/db_xref="GeneID:546"
/db_xref="HGNC:886"
/db_xref="HPRD:02069"
/db_xref="MIM:300032"
exon 1..252
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
variation 13
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="c"
/replace="t"
/db_xref="dbSNP:45476399"
misc_feature 131..133
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="upstream in-frame stop codon"
variation 219
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="g"
/db_xref="dbSNP:45472092"
CDS 233..7711
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/EC_number="3.6.4.12"
/note="isoform 1 is encoded by transcript variant 1; alpha
thalassemia/mental retardation syndrome X-linked (RAD54
homolog, S. cerevisiae); DNA dependent ATPase and
helicase; Zinc finger helicase; X-linked nuclear protein;
helicase 2, X-linked; transcriptional regulator ATRX;
X-linked helicase II; ATP-dependent helicase ATRX"
/codon_start=1
/product="transcriptional regulator ATRX isoform 1"
/protein_id="NP_000480.2"
/db_xref="GI:20336209"
/db_xref="CCDS:CCDS14434.1"
/db_xref="GeneID:546"
/db_xref="HGNC:886"
/db_xref="HPRD:02069"
/db_xref="MIM:300032"
/translation="
MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENSKEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQSLPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNHFQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQCRWCAEGGNLICCDFCHNAFCKKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKVDSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLIETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAMDAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPTEEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQSSVDHQGDGSSGTEQEVESSSVKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPIKGADCQEVPQDKDGYKSCGLNPKLEKCGLGQENSDNEHLVENEVSLLLEESDLRRSPRVKTTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDKRNSSDSAIDNPKPNKLPKSKQSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQAGKDDKGKRKRKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKRIPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTTIMELRDRLPKKQQASASTDGVDKLSGKEQSFTSLEVRKVAETKEKSKHLKTKTCKKVQDGLSDIAEKFLKKDQSDETSEDDKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLPEREEICHFPKGIKQIKNGTTDGEKKSKKIRDKTSKKKDELSDYAEKSTGKGDSCDSSEDKKSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKEDGCNSSDKRLKRIELRERRNLSSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLRTSTKRKQADITSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDDDDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQVNSESDSDSEESKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSEDSDFQESGVSEEVSESEDEQRPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKSNSEEEEEEKEEEEEEEEEEEEEEEDENDDSKSPGKGRKKIRKILKDDKLRTETQNALKEEEERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLDEDEETKEPLVQVHRNMVIKLKPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHTVLLCDKLDFSTALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMIIGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRSRRRIILTGTPLQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVMKKRAHILYEMLAGCVQRKDYTALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNNSEGGRGKAGAKLFQDFQMLSRIWTHPWCLQLDYISKENKGYFDEDSMDEFIASDSDETSMSLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNSRSRGGGEGNVDETGNNPSVSLKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMAEEIGDKVLVFSQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAEEFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPVYVYRFLAQGTMEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNSEKKKKRDTPMLPKDTILAELLQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEAEKKGLTMRFNIPTGTNLPPVSFNSQTPYIPFNLGALSAMSNQQLEDLINQGREKVVEATNSVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLTKQQMLISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSNYQQIDMRGMYQPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM
"
misc_feature 317..319
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 329..331
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 332..334
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 332..334
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 482..484
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 491..493
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 497..499
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine; propagated from
UniProtKB/Swiss-Prot (P46100.5); phosphorylation site"
misc_feature 506..508
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 506..508
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 566..568
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 713..1099
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="ADDz domain of ATRX (alpha-thalassemia/mental
retardation, X-linked); Region: ADDz_ATRX; cd11726"
/db_xref="CDD:213034"
misc_feature order(743..745,749..754,821..823,830..832,890..892,
899..901,905..907,926..928,935..937,950..952,959..961,
1025..1027,1034..1036)
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="Zn binding site [ion binding]; other site"
/db_xref="CDD:213034"
misc_feature order(866..868,872..874,881..883,908..925,953..955,
998..1003,1019..1021)
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="peptide binding site [polypeptide binding]; other
site"
/db_xref="CDD:213034"
misc_feature 1973..2014
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P46100.5);
Region: PxVxL motif"
misc_feature 2003..2005
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (P46100.5); phosphorylation site"
misc_feature 2012..2014
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2024..2026
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2132..2134
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2132..2134
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2252..2254
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphothreonine; propagated from
UniProtKB/Swiss-Prot (P46100.5); phosphorylation site"
misc_feature 2255..2257
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2261..2263
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2282..2284
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2339..2341
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2348..2350
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2417..2419
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2417..2419
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2423..2425
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2423..2425
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2465..2467
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2507..2509
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2777..2779
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2780..2782
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2843..2845
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2855..2857
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2858..2860
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2891..2893
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2897..2899
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 2900..2902
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 3131..3133
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (P46100.5); acetylation site"
misc_feature 3413..3415
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 3419..3421
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine; propagated from
UniProtKB/Swiss-Prot (P46100.5); phosphorylation site"
misc_feature 3419..3421
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 4196..4198
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 4202..4204
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 4208..4210
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 4274..4276
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 4274..4276
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 4286..4288
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 4286..4288
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 4811..4813
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 4811..4813
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 4817..4819
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 4919..5899
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="SNF2 family N-terminal domain; Region: SNF2_N;
pfam00176"
/db_xref="CDD:201060"
misc_feature 4994..5482
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="DEAD-like helicases superfamily. A diverse family
of proteins involved in ATP-dependent RNA or DNA
unwinding. This domain contains the ATP-binding region;
Region: DEXDc; cd00046"
/db_xref="CDD:28927"
misc_feature 5021..5035
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="ATP binding site [chemical binding]; other site"
/db_xref="CDD:28927"
misc_feature 5387..5398
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (P46100.5);
Region: DEGH box"
misc_feature 5387..5398
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="putative Mg++ binding site [ion binding]; other
site"
/db_xref="CDD:28927"
misc_feature 6197..6199
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 6200..6202
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 6203..6205
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 6206..6208
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 6206..6208
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 6215..6217
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 6218..6220
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
misc_feature 6281..6721
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="Helicase superfamily c-terminal domain; associated
with DEXDc-, DEAD-, and DEAH-box proteins, yeast
initiation factor 4A, Ski2p, and Hepatitis C virus NS3
helicases; this domain is found in a wide variety of
helicases and helicase related proteins; may...; Region:
HELICc; cd00079"
/db_xref="CDD:28960"
misc_feature order(6356..6367,6485..6490,6581..6589)
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="nucleotide binding region [chemical binding]; other
site"
/db_xref="CDD:28960"
misc_feature order(6605..6607,6668..6670,6680..6682,6689..6691)
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="ATP-binding site [chemical binding]; other site"
/db_xref="CDD:28960"
misc_feature 6890..6892
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P46100.5); phosphorylation site"
exon 253..365
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 366..421
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 422..474
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 475..602
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
variation 520
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="g"
/db_xref="dbSNP:45574238"
exon 603..716
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
misc_feature 603..716
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/note="Region: alternate segment present in variant 1"
exon 717..826
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 827..894
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
variation 880
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="g"
/replace="t"
/db_xref="dbSNP:45572441"
exon 895..3968
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
variation 1696
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="c"
/replace="t"
/db_xref="dbSNP:3134917"
variation 1865
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="c"
/replace="g"
/db_xref="dbSNP:35738915"
variation 1925
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="g"
/db_xref="dbSNP:45528831"
variation 2018
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="c"
/replace="t"
/db_xref="dbSNP:1051678"
variation 2194
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="g"
/db_xref="dbSNP:1051679"
variation 2451
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="g"
/db_xref="dbSNP:1051680"
STS 2706..3459
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="ATRX_v351"
/db_xref="UniSTS:277020"
variation 2772
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="c"
/replace="t"
/db_xref="dbSNP:45624939"
variation 3017
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="c"
/replace="g"
/db_xref="dbSNP:3088074"
variation 3553
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="c"
/replace="t"
/db_xref="dbSNP:1051681"
variation 3619
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="g"
/db_xref="dbSNP:3761507"
STS 3757..4026
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596309"
/db_xref="UniSTS:158091"
variation 3919
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1051682"
STS 3949..4182
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596303"
/db_xref="UniSTS:158089"
exon 3969..4041
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 4042..4175
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 4081..4237
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="MARC_6759-6760:992007400:1"
/db_xref="UniSTS:231262"
exon 4176..4352
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 4353..4446
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 4435..4661
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596290"
/db_xref="UniSTS:158086"
exon 4447..4549
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 4550..4789
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 4615..4825
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596286"
/db_xref="UniSTS:158085"
STS 4673..4968
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596276"
/db_xref="UniSTS:158082"
exon 4790..4931
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 4812..5095
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596262"
/db_xref="UniSTS:158080"
variation 4891
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="c"
/replace="t"
/db_xref="dbSNP:25641"
exon 4932..5041
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 5000..5263
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596231"
/db_xref="UniSTS:158071"
exon 5042..5188
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 5189..5366
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 5212..5394
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596225"
/db_xref="UniSTS:158067"
variation 5295
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="t"
/db_xref="dbSNP:45576533"
STS 5299..5602
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596219"
/db_xref="UniSTS:158064"
exon 5367..5504
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 5505..5680
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 5579..5839
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596216"
/db_xref="UniSTS:158063"
exon 5681..5798
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 5788..5908
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="RH47714"
/db_xref="UniSTS:57350"
exon 5799..5929
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 5800..6005
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596281"
/db_xref="UniSTS:158084"
STS 5880..6088
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596212"
/db_xref="UniSTS:158061"
exon 5930..6018
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 6019..6188
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 6055..6344
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596209"
/db_xref="UniSTS:158060"
exon 6189..6342
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 6263..6519
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596204"
/db_xref="UniSTS:158057"
exon 6343..6449
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 6446..6669
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596198"
/db_xref="UniSTS:158053"
exon 6450..6558
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 6559..6736
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 6630..6836
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596193"
/db_xref="UniSTS:158050"
exon 6737..6931
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 6763..6942
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596234"
/db_xref="UniSTS:158072"
STS 6811..7061
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596239"
/db_xref="UniSTS:158075"
STS 6925..7148
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596244"
/db_xref="UniSTS:158076"
exon 6932..7081
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 7082..7207
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 7094..7374
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596250"
/db_xref="UniSTS:158077"
exon 7208..7303
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 7262..7481
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596255"
/db_xref="UniSTS:158078"
exon 7304..7432
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
exon 7433..11184
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/inference="alignment:Splign:1.39.8"
STS 7469..7679
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="GDB:596258"
/db_xref="UniSTS:158079"
STS 7709..7927
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="STS-U72937"
/db_xref="UniSTS:71061"
variation 7765
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="c"
/replace="t"
/db_xref="dbSNP:1051686"
STS 8886..9035
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="WI-21664"
/db_xref="UniSTS:77670"
variation 8952
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="g"
/db_xref="dbSNP:3134920"
STS 8966..9113
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="DXS9779"
/db_xref="UniSTS:75921"
STS 9352..9464
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="DXS6980E"
/db_xref="UniSTS:99210"
variation 9908
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="g"
/db_xref="dbSNP:3134921"
variation 10018
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/replace="a"
/replace="t"
/db_xref="dbSNP:3135467"
polyA_signal 10330..10335
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
polyA_site 10347
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
polyA_site 10348
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
polyA_site 10349
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
STS 10994..11094
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
/standard_name="RH103658"
/db_xref="UniSTS:97983"
polyA_signal 11160..11165
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
polyA_site 11184
/gene="ATRX"
/gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1;
SHS; XH2; XNP; ZNF-HX"
ORIGIN
aattctcctgcctgagcctcggcccaacaaaatggcggcggcagcggtgtcgctttgtttccgcggctcctgcggcggtggcagtggtagcggcctttgagctgtggggaggttccagcagcagctacagtgacgactaagactccagtgcatttctatcgtaaccgggcgcgggggagcgcagatcggcgcccagcaatcacagaagccgacaaggcgttcaagcgaaaacatgaccgctgagcccatgagtgaaagcaagttgaatacattggtgcagaagcttcatgacttccttgcacactcatcagaagaatctgaagaaacaagttctcctccacgacttgcaatgaatcaaaacacagataaaatcagtggttctggaagtaactctgatatgatggaaaacagcaaggaagagggaactagctcttcagaaaaatccaagtcttcaggatcgtcacgatcaaagaggaaaccttcaattgtaacaaagtatgtagaatcagatgatgaaaaacctttggatgatgaaactgtaaatgaagatgcgtctaatgaaaattcagaaaatgatattactatgcagagcttgccaaaaggtacagtgattgtacagccagagccagtgctgaatgaagacaaagatgattttaaagggcctgaatttagaagcagaagtaaaatgaaaactgaaaatctcaaaaaacgcggagaagatgggcttcatgggattgtgagctgcactgcttgtggacaacaggtcaatcattttcaaaaagattccatttatagacacccttcattgcaagttcttatttgtaagaattgctttaagtattacatgagtgatgatattagccgtgactcagatggaatggatgaacaatgtaggtggtgtgcggaaggtggaaacttgatttgttgtgacttttgccataatgctttctgcaagaaatgcattctacgcaaccttggtcgaaaggagttgtccacaataatggatgaaaacaaccaatggtattgctacatttgtcacccagagcctttgttggacttggtcactgcatgtaacagcgtatttgagaatttagaacagttgttgcagcaaaataagaagaagataaaagttgacagtgaaaagagtaataaagtatatgaacatacatccagattttctccaaagaagactagttcaaattgtaatggagaagaaaagaaattagatgattcctgttctggctctgtaacctactcttattccgcactaattgtgcccaaagagatgattaagaaggcaaaaaaactgattgagaccacagccaacatgaactccagttatgttaaatttttaaagcaggcaacagataattcagaaatcagttctgctacaaaattacgtcagcttaaggcttttaagtctgtgttggctgatattaagaaggctcatcttgcattggaagaagacttaaattccgagtttcgagcgatggatgctgtaaacaaagagaaaaataccaaagagcataaagtcatagatgctaagtttgaaacaaaagcacgaaaaggagaaaaaccttgtgctttggaaaagaaggatatttcaaagtcagaagctaaactttcaagaaaacaggtagatagtgagcacatgcatcagaatgttccaacagaggaacaaagaacaaataaaagtaccggtggtgaacataagaaatctgatagaaaagaagaacctcaatatgaacctgccaacacttctgaagatttagacatggatattgtgtctgttccttcctcagttccagaagacatttttgagaatcttgagactgctatggaagttcagagttcagttgatcatcaaggggatggcagcagtggaactgaacaagaagtggagagttcatctgtaaaattaaatatttcttcaaaagacaacagaggaggtattaaatcaaaaactacagctaaagtaacaaaagaattatatgttaaactcactcctgtttccctttctaattccccaattaaaggtgctgattgtcaggaagttccacaagataaagatggctataaaagttgtggtctgaaccccaagttagagaaatgtggacttggacaggaaaacagtgataatgagcatttggttgaaaatgaagtttcattacttttagaggaatctgatcttcgaagatccccacgtgtaaagactacacccttgaggcgaccgacagaaactaaccctgtaacatctaattcagatgaagaatgtaatgaaacagttaaggagaaacaaaaactatcagttccagtgagaaaaaaggataagcgtaattcttctgacagtgctatagataatcctaagcctaataaattgccaaaatctaagcaatcagagactgtggatcaaaattcagattctgatgaaatgctagcaatcctcaaagaggtgagcaggatgagtcacagttcttcttcagatactgatattaatgaaattcatacaaaccataagactttgtatgatttaaagactcaggcggggaaagatgataaaggaaaaaggaaacgaaaaagttctacatctggctcagattttgatactaaaaagggcaaatcagctaagagctctataatttctaaaaagaaacgacaaacccagtctgagtcttctaattatgactcagaattagaaaaagagataaagagcatgagtaaaattggtgctgccagaaccaccaaaaaaagaattccaaatacaaaagattttgactcttctgaagatgagaaacacagcaaaaaaggaatggataatcaagggcacaaaaatttgaagacctcacaagaaggatcatctgatgatgctgaaagaaaacaagagagagagactttctcttcagcagaaggcacagttgataaagacacgaccatcatggaattaagagatcgacttcctaagaagcagcaagcaagtgcttccactgatggtgtcgataagctttctgggaaagagcagagttttacttctttggaagttagaaaagttgctgaaactaaagaaaagagcaagcatctcaaaaccaaaacatgtaaaaaagtacaggatggcttatctgatattgcagagaaattcctaaagaaagaccagagcgatgaaacttctgaagatgataaaaagcagagcaaaaagggaactgaagaaaaaaagaaaccttcagactttaagaaaaaagtaattaaaatggaacaacagtatgaatcttcatctgatggcactgaaaagttacctgagcgagaagaaatttgtcattttcctaagggcataaaacaaattaagaatggaacaactgatggagaaaagaaaagtaaaaaaataagagataaaacttctaaaaagaaggatgaattatctgattatgctgagaagtcaacagggaaaggagatagttgtgactcttcagaggataaaaagagtaagaatggagcatatggtagagagaagaaaaggtgcaagttgcttggaaagagttcaaggaagagacaagattgttcatcatctgatactgagaaatattccatgaaagaagatggttgtaactcttctgataagagactgaaaagaatagaattgagggaaagaagaaatttaagttcaaagagaaatactaaggaaatacaaagtggctcatcatcatctgatgctgaggaaagttctgaagataataaaaagaagaagcaaagaacttcatctaaaaagaaggcagtcattgtcaaggagaaaaagagaaactccctaagaacaagcactaaaaggaagcaagctgacattacatcctcatcttcttctgatatagaagatgatgatcagaattctataggtgagggaagcagcgatgaacagaaaattaagcctgtgactgaaaatttagtgctgtcttcacatactggattttgccaatcttcaggagatgaagccttatctaaatcagtgcctgtcacagtggatgatgatgatgacgacaatgatcctgagaatagaattgccaagaagatgcttttagaagaaattaaagccaatctttcctctgatgaggatggatcttcagatgatgagccagaagaagggaaaaaaagaactggaaaacaaaatgaagaaaacccaggagatgaggaagcaaaaaatcaagtcaattctgaatcagattcagattctgaagaatctaagaagccaagatacagacataggcttttgcggcacaaattgactgtgagtgacggagaatctggagaagaaaaaaagacaaagcctaaagagcataaagaagtcaaaggcagaaacagaagaaaggtgagcagtgaagattcagaagattctgattttcaggaatcaggagttagtgaagaagttagtgaatccgaagatgaacagcggcccagaacaaggtctgcaaagaaagcagagttggaagaaaatcagcggagctataaacagaaaaagaaaaggcgacgtattaaggttcaagaagattcatccagtgaaaacaagagtaattctgaggaagaagaggaggaaaaagaagaggaggaggaagaggaggaggaggaggaagaggaggaggaagatgaaaatgatgattccaagtctcctggaaaaggcagaaagaaaattcggaagattcttaaagatgataaactgagaacagaaacacaaaatgctcttaaggaagaggaagagagacgaaaacgtattgctgagagggagcgtgagcgagaaaaattgagagaggtgatagaaattgaagatgcttcacccaccaagtgtccaataacaaccaagttggttttagatgaagatgaagaaaccaaagaacctttagtgcaggttcatagaaatatggttatcaaattgaaaccccatcaagtagatggtgttcagtttatgtgggattgctgctgtgagtctgtgaaaaaaacaaagaaatctccaggttcaggat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agcgtttttgcttagtattgtgatattgtatatgttttgtcccagttgtatagtaatgtttcagtccatcatccagctttggctgctgaaatcatacagctgtgaagacttgcctttgtttctgttagactgcttttcagttctgtattgagtatcttaagtactgtagaaaagatgtcacttcttcctttaaggctgttttgtaatatatataaggactggaattgtgtttttaaagaaaagcattcaagtatgacaatatactatctgtgttttcaccattcaaagtgctgtttagtagttgaaacttaaactatttaatgtcatttaataaagtgaccaaaatgtgttgtgctctttattgtattttcacagctttgaaaatctgtgcacatactgtttcatagaaaatgtatagcttttgttgtcctatataatggtggttcttttgcacatttagttatttaatattgagaggtcacgaagtttggttattgaatctgttatatactaaattctgtaaagggagatctctcatctcaaaaagaatttacataccaggaagtccatgtgtgtttgtgttagttttggatgtctttgtgtaatccagccccatttcctgtttcccaacagctgtaacactcattttaagtcaagcagggctaccaacccacacttgatagaaaagctgcttaccattcagaagcttccttattacctggcctccaaatgagctgaatattttgtagccttcccttagctatgttcattttccctccattatcataaaatcagatcgatatttatgtgccccaaacaaaactttaagagcagttacattctgtcccagtagcccttgtttcctttgagagtagcatgttgtgaggctatagagacttattctaccagtaaaacaggtcaatccttttacatgtttattatactaaaaattatgttcagggtatttactactttatttcaccagactcagtctcaagtgacttggctatctccaaatcagatctacccttagagaataaacatttttctaccgttattttttttcaagtctataatctgagccagtcccaaaggagtgatcaagtttcagaaatgctttcatcttcacaacattttatatatactattatatggggtgaataaagttttaaatccgaaatataaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:546 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:546 -> Molecular function: GO:0003678 [DNA helicase activity] evidence: TAS
GeneID:546 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA
GeneID:546 -> Molecular function: GO:0004386 [helicase activity] evidence: TAS
GeneID:546 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:546 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:546 -> Molecular function: GO:0008270 [zinc ion binding] evidence: IEA
GeneID:546 -> Molecular function: GO:0070087 [chromo shadow domain binding] evidence: IPI
GeneID:546 -> Biological process: GO:0006281 [DNA repair] evidence: IEA
GeneID:546 -> Biological process: GO:0006306 [DNA methylation] evidence: TAS
GeneID:546 -> Biological process: GO:0006310 [DNA recombination] evidence: TAS
GeneID:546 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: TAS
GeneID:546 -> Biological process: GO:0030900 [forebrain development] evidence: IEA
GeneID:546 -> Biological process: GO:0032508 [DNA duplex unwinding] evidence: TAS
GeneID:546 -> Cellular component: GO:0005634 [nucleus] evidence: TAS
GeneID:546 -> Cellular component: GO:0005720 [nuclear heterochromatin] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_000480 -> EC 3.6.4.12
by
@meso_cacase at
DBCLS
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