2025-05-09 17:30:36, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_138270 11088 bp mRNA linear PRI 19-MAY-2013 DEFINITION Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 2, mRNA. ACCESSION NM_138270 VERSION NM_138270.2 GI:130979649 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 11088) 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 11088) 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 11088) 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 11088) 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 11088) 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 11088) 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 11088) 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 11088) 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 11088) 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 11088) 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, U72938.2, DR422800.1, BX647222.1, BE927791.1, AA484729.1, BQ189245.1, AI733378.1, CB114986.1, BM714186.1 and AA732359.1. On Mar 14, 2007 this sequence version replaced gi:20336204. 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 (2) lacks a segment within the coding region when compared to variant 1. The translation remains in-frame, and thus results in an isoform (2) that lacks an internal segment, as compared to 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 :: U72938.2 [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 18-7650 U72938.2 1-7633 7651-8205 DR422800.1 153-707 8206-9043 BX647222.1 6409-7246 9044-9313 BE927791.1 15-284 c 9314-9596 AA484729.1 141-423 9597-10113 BQ189245.1 41-557 10114-10566 AI733378.1 1-453 c 10567-10744 CB114986.1 349-526 10745-10953 BM714186.1 346-554 10954-11088 AA732359.1 1-135 c FEATURES Location/Qualifiers source 1..11088 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xq21.1" gene 1..11088 /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..7597 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /EC_number="3.6.4.12" /note="isoform 2 is encoded by transcript variant 2; 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 2" /protein_id="NP_612114.1" /db_xref="GI:20336205" /db_xref="CCDS:CCDS14435.1" /db_xref="GeneID:546" /db_xref="HGNC:886" /db_xref="HPRD:02069" /db_xref="MIM:300032" /translation="
MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENSKEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQSLPKEDGLHGIVSCTACGQQVNHFQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQCRWCAEGGNLICCDFCHNAFCKKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKVDSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLIETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAMDAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPTEEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQSSVDHQGDGSSGTEQEVESSSVKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPIKGADCQEVPQDKDGYKSCGLNPKLEKCGLGQENSDNEHLVENEVSLLLEESDLRRSPRVKTTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDKRNSSDSAIDNPKPNKLPKSKQSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQAGKDDKGKRKRKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKRIPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTTIMELRDRLPKKQQASASTDGVDKLSGKEQSFTSLEVRKVAETKEKSKHLKTKTCKKVQDGLSDIAEKFLKKDQSDETSEDDKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLPEREEICHFPKGIKQIKNGTTDGEKKSKKIRDKTSKKKDELSDYAEKSTGKGDSCDSSEDKKSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKEDGCNSSDKRLKRIELRERRNLSSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLRTSTKRKQADITSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDDDDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQVNSESDSDSEESKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSEDSDFQESGVSEEVSESEDEQRPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKSNSEEEEEEKEEEEEEEEEEEEEEEDENDDSKSPGKGRKKIRKILKDDKLRTETQNALKEEEERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLDEDEETKEPLVQVHRNMVIKLKPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHTVLLCDKLDFSTALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMIIGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRSRRRIILTGTPLQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVMKKRAHILYEMLAGCVQRKDYTALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNNSEGGRGKAGAKLFQDFQMLSRIWTHPWCLQLDYISKENKGYFDEDSMDEFIASDSDETSMSLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNSRSRGGGEGNVDETGNNPSVSLKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMAEEIGDKVLVFSQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAEEFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPVYVYRFLAQGTMEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNSEKKKKRDTPMLPKDTILAELLQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEAEKKGLTMRFNIPTGTNLPPVSFNSQTPYIPFNLGALSAMSNQQLEDLINQGREKVVEATNSVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLTKQQMLISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSNYQQIDMRGMYQPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM
" 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 602..985 /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(629..631,635..640,707..709,716..718,776..778, 785..787,791..793,812..814,821..823,836..838,845..847, 911..913,920..922) /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(752..754,758..760,767..769,794..811,839..841, 884..889,905..907) /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 1859..1900 /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 1889..1891 /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 1898..1900 /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 1910..1912 /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 2018..2020 /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 2018..2020 /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 2138..2140 /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 2141..2143 /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 2147..2149 /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 2168..2170 /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 2225..2227 /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 2234..2236 /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 2303..2305 /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 2303..2305 /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 2309..2311 /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 2309..2311 /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 2351..2353 /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 2393..2395 /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 2663..2665 /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 2666..2668 /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 2729..2731 /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 2741..2743 /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 2744..2746 /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 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 2783..2785 /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 2786..2788 /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 3017..3019 /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 3299..3301 /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 3305..3307 /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 3305..3307 /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 4082..4084 /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 4088..4090 /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 4094..4096 /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 4160..4162 /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 4160..4162 /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 4172..4174 /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 4172..4174 /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 4697..4699 /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 4697..4699 /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 4703..4705 /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 4805..5785 /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 4880..5368 /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 4907..4921 /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 5273..5284 /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 5273..5284 /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 6083..6085 /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 6086..6088 /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 6089..6091 /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 6092..6094 /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 6092..6094 /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 6101..6103 /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 6104..6106 /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 6167..6607 /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(6242..6253,6371..6376,6467..6475) /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(6491..6493,6554..6556,6566..6568,6575..6577) /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 6776..6778 /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..712 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 713..780 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" variation 766 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="g" /replace="t" /db_xref="dbSNP:45572441" exon 781..3854 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" variation 1582 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="c" /replace="t" /db_xref="dbSNP:3134917" variation 1751 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="c" /replace="g" /db_xref="dbSNP:35738915" variation 1811 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="a" /replace="g" /db_xref="dbSNP:45528831" variation 1904 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="c" /replace="t" /db_xref="dbSNP:1051678" variation 2080 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="a" /replace="g" /db_xref="dbSNP:1051679" variation 2337 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="a" /replace="g" /db_xref="dbSNP:1051680" STS 2592..3345 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="ATRX_v351" /db_xref="UniSTS:277020" variation 2658 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="c" /replace="t" /db_xref="dbSNP:45624939" variation 2903 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="c" /replace="g" /db_xref="dbSNP:3088074" variation 3439 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="c" /replace="t" /db_xref="dbSNP:1051681" variation 3505 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="a" /replace="g" /db_xref="dbSNP:3761507" STS 3643..3912 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596309" /db_xref="UniSTS:158091" variation 3805 /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 3835..4068 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596303" /db_xref="UniSTS:158089" exon 3855..3927 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 3928..4061 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 3967..4123 /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 4062..4238 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 4239..4332 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 4321..4547 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596290" /db_xref="UniSTS:158086" exon 4333..4435 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 4436..4675 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 4501..4711 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596286" /db_xref="UniSTS:158085" STS 4559..4854 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596276" /db_xref="UniSTS:158082" exon 4676..4817 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 4698..4981 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596262" /db_xref="UniSTS:158080" variation 4777 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="c" /replace="t" /db_xref="dbSNP:25641" exon 4818..4927 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 4886..5149 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596231" /db_xref="UniSTS:158071" exon 4928..5074 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 5075..5252 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 5098..5280 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596225" /db_xref="UniSTS:158067" variation 5181 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="a" /replace="t" /db_xref="dbSNP:45576533" STS 5185..5488 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596219" /db_xref="UniSTS:158064" exon 5253..5390 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 5391..5566 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 5465..5725 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596216" /db_xref="UniSTS:158063" exon 5567..5684 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 5674..5794 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="RH47714" /db_xref="UniSTS:57350" exon 5685..5815 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 5686..5891 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596281" /db_xref="UniSTS:158084" STS 5766..5974 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596212" /db_xref="UniSTS:158061" exon 5816..5904 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 5905..6074 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 5941..6230 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596209" /db_xref="UniSTS:158060" exon 6075..6228 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 6149..6405 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596204" /db_xref="UniSTS:158057" exon 6229..6335 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 6332..6555 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596198" /db_xref="UniSTS:158053" exon 6336..6444 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 6445..6622 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 6516..6722 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596193" /db_xref="UniSTS:158050" exon 6623..6817 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 6649..6828 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596234" /db_xref="UniSTS:158072" STS 6697..6947 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596239" /db_xref="UniSTS:158075" STS 6811..7034 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596244" /db_xref="UniSTS:158076" exon 6818..6967 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 6968..7093 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 6980..7260 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596250" /db_xref="UniSTS:158077" exon 7094..7189 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 7148..7367 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596255" /db_xref="UniSTS:158078" exon 7190..7318 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" exon 7319..11070 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /inference="alignment:Splign:1.39.8" STS 7355..7565 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="GDB:596258" /db_xref="UniSTS:158079" STS 7595..7813 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="STS-U72937" /db_xref="UniSTS:71061" variation 7651 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="c" /replace="t" /db_xref="dbSNP:1051686" STS 8772..8921 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="WI-21664" /db_xref="UniSTS:77670" variation 8838 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="a" /replace="g" /db_xref="dbSNP:3134920" STS 8852..8999 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="DXS9779" /db_xref="UniSTS:75921" STS 9238..9350 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="DXS6980E" /db_xref="UniSTS:99210" variation 9794 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /replace="a" /replace="g" /db_xref="dbSNP:3134921" variation 9904 /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 10216..10221 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" polyA_site 10233 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" polyA_site 10234 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" polyA_site 10235 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" STS 10880..10980 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" /standard_name="RH103658" /db_xref="UniSTS:97983" polyA_signal 11046..11051 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" polyA_site 11070 /gene="ATRX" /gene_synonym="ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX" ORIGIN
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//
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_612114 -> EC 3.6.4.12
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