• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000489 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_000489.3, 130979463
Length 11202 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.
Product transcriptional regulator ATRX isoform 1
Comment

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).

RefSeq NP_000480.2
CDS 233..7711
Misc Feature(1)131..133
Misc Feature(2)317..319
Misc Feature(3)317..319
Misc Feature(4)329..331
Misc Feature(5)332..334
Misc Feature(6)332..334
Misc Feature(7)482..484
Misc Feature(8)491..493
Misc Feature(9)497..499
Misc Feature(10)506..508
Misc Feature(11)506..508
Misc Feature(12)566..568
Misc Feature(13)713..1099
Misc Feature(14)order(743..745,749..754,821..823,830..832,890..892,
Misc Feature(15)order(866..868,872..874,881..883,908..925,953..955,
Misc Feature(16)1973..2014
Misc Feature(17)2003..2005
Misc Feature(18)2012..2014
Misc Feature(19)2024..2026
Misc Feature(20)2132..2134
Misc Feature(21)2132..2134
Misc Feature(22)2252..2254
Misc Feature(23)2255..2257
Misc Feature(24)2261..2263
Misc Feature(25)2282..2284
Misc Feature(26)2339..2341
Misc Feature(27)2348..2350
Misc Feature(28)2417..2419
Misc Feature(29)2417..2419
Misc Feature(30)2423..2425
Misc Feature(31)2423..2425
Misc Feature(32)2465..2467
Misc Feature(33)2507..2509
Misc Feature(34)2777..2779
Misc Feature(35)2780..2782
Misc Feature(36)2843..2845
Misc Feature(37)2855..2857
Misc Feature(38)2858..2860
Misc Feature(39)2891..2893
Misc Feature(40)2897..2899
Misc Feature(41)2900..2902
Misc Feature(42)3131..3133
Misc Feature(43)3413..3415
Misc Feature(44)3419..3421
Misc Feature(45)3419..3421
Misc Feature(46)4196..4198
Misc Feature(47)4202..4204
Misc Feature(48)4208..4210
Misc Feature(49)4274..4276
Misc Feature(50)4274..4276
Misc Feature(51)4286..4288
Misc Feature(52)4286..4288
Misc Feature(53)4811..4813
Misc Feature(54)4811..4813
Misc Feature(55)4817..4819
Misc Feature(56)4919..5899
Misc Feature(57)4994..5482
Misc Feature(58)5021..5035
Misc Feature(59)5387..5398
Misc Feature(60)5387..5398
Misc Feature(61)6197..6199
Misc Feature(62)6200..6202
Misc Feature(63)6203..6205
Misc Feature(64)6206..6208
Misc Feature(65)6206..6208
Misc Feature(66)6215..6217
Misc Feature(67)6218..6220
Misc Feature(68)6281..6721
Misc Feature(69)order(6356..6367,6485..6490,6581..6589)
Misc Feature(70)order(6605..6607,6668..6670,6680..6682,6689..6691)
Misc Feature(71)6890..6892
Misc Feature(72)603..716
Misc Feature(73)603..716
Exon (1)1..252
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (2)253..365
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (3)366..421
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (4)422..474
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (5)475..602
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (6)603..716
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (7)717..826
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (8)827..894
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (9)895..3968
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (10)3969..4041
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (11)4042..4175
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (12)4176..4352
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (13)4353..4446
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (14)4447..4549
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (15)4550..4789
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (16)4790..4931
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (17)4932..5041
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (18)5042..5188
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (19)5189..5366
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (20)5367..5504
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (21)5505..5680
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (22)5681..5798
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (23)5799..5929
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (24)5930..6018
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (25)6019..6188
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (26)6189..6342
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (27)6343..6449
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (28)6450..6558
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (29)6559..6736
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (30)6737..6931
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (31)6932..7081
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (32)7082..7207
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (33)7208..7303
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (34)7304..7432
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Exon (35)7433..11184
Gene:ATRX
Gene Synonym:ATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
Translation MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENS KEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNEDASNENSENDITMQS LPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNH FQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQCRWCAEGGNLICCDFCHNAFC KKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKV DSEKSNKVYEHTSRFSPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLI ETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPT EEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVPEDIFENLETAMEVQS SVDHQGDGSSGTEQEVESSSVKLNISSKDNRGGIKSKTTAKVTKELYVKLTPVSLSNSPI KGADCQEVPQDKDGYKSCGLNPKLEKCGLGQENSDNEHLVENEVSLLLEESDLRRSPRVK TTPLRRPTETNPVTSNSDEECNETVKEKQKLSVPVRKKDKRNSSDSAIDNPKPNKLPKSK QSETVDQNSDSDEMLAILKEVSRMSHSSSSDTDINEIHTNHKTLYDLKTQAGKDDKGKRK RKSSTSGSDFDTKKGKSAKSSIISKKKRQTQSESSNYDSELEKEIKSMSKIGAARTTKKR IPNTKDFDSSEDEKHSKKGMDNQGHKNLKTSQEGSSDDAERKQERETFSSAEGTVDKDTT IMELRDRLPKKQQASASTDGVDKLSGKEQSFTSLEVRKVAETKEKSKHLKTKTCKKVQDG LSDIAEKFLKKDQSDETSEDDKKQSKKGTEEKKKPSDFKKKVIKMEQQYESSSDGTEKLP EREEICHFPKGIKQIKNGTTDGEKKSKKIRDKTSKKKDELSDYAEKSTGKGDSCDSSEDK KSKNGAYGREKKRCKLLGKSSRKRQDCSSSDTEKYSMKEDGCNSSDKRLKRIELRERRNL SSKRNTKEIQSGSSSSDAEESSEDNKKKKQRTSSKKKAVIVKEKKRNSLRTSTKRKQADI TSSSSSDIEDDDQNSIGEGSSDEQKIKPVTENLVLSSHTGFCQSSGDEALSKSVPVTVDD DDDDNDPENRIAKKMLLEEIKANLSSDEDGSSDDEPEEGKKRTGKQNEENPGDEEAKNQV NSESDSDSEESKKPRYRHRLLRHKLTVSDGESGEEKKTKPKEHKEVKGRNRRKVSSEDSE DSDFQESGVSEEVSESEDEQRPRTRSAKKAELEENQRSYKQKKKRRRIKVQEDSSSENKS NSEEEEEEKEEEEEEEEEEEEEEEDENDDSKSPGKGRKKIRKILKDDKLRTETQNALKEE EERRKRIAEREREREKLREVIEIEDASPTKCPITTKLVLDEDEETKEPLVQVHRNMVIKL KPHQVDGVQFMWDCCCESVKKTKKSPGSGCILAHCMGLGKTLQVVSFLHTVLLCDKLDFS TALVVCPLNTALNWMNEFEKWQEGLKDDEKLEVSELATVKRPQERSYMLQRWQEDGGVMI IGYEMYRNLAQGRNVKSRKLKEIFNKALVDPGPDFVVCDEGHILKNEASAVSKAMNSIRS RRRIILTGTPLQNNLIEYHCMVNFIKENLLGSIKEFRNRFINPIQNGQCADSTMVDVRVM KKRAHILYEMLAGCVQRKDYTALTKFLPPKHEYVLAVRMTSIQCKLYQYYLDHLTGVGNN SEGGRGKAGAKLFQDFQMLSRIWTHPWCLQLDYISKENKGYFDEDSMDEFIASDSDETSM SLSSDDYTKKKKKGKKGKKDSSSSGSGSDNDVEVIKVWNSRSRGGGEGNVDETGNNPSVS LKLEESKATSSSNPSSPAPDWYKDFVTDADAEVLEHSGKMVLLFEILRMAEEIGDKVLVF SQSLISLDLIEDFLELASREKTEDKDKPLIYKGEGKWLRNIDYYRLDGSTTAQSRKKWAE EFNDETNVRGRLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRVYRFGQTKPV YVYRFLAQGTMEDKIYDRQVTKQSLSFRVVDQQQVERHFTMNELTELYTFEPDLLDDPNS EKKKKRDTPMLPKDTILAELLQIHKEHIVGYHEHDSLLDHKEEEELTEEERKAAWAEYEA EKKGLTMRFNIPTGTNLPPVSFNSQTPYIPFNLGALSAMSNQQLEDLINQGREKVVEATN SVTAVRIQPLEDIISAVWKENMNLSEAQVQALALSRQASQELDVKRREAIYNDVLTKQQM LISCVQRILMNRRLQQQYNQQQQQQMTYQQATLGHLMMPKPPNLIMNPSNYQQIDMRGMY QPVAGGMQPPPLQRAPPPMRSKNPGPSQGKSM
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Position Chain Variation Link
complement(13)-dbSNP:
complement(13)-t, cdbSNP:45476399
complement(114)-g, adbSNP:112273536
complement(219)-g, adbSNP:45472092
complement(328)-dbSNP:
complement(328)-t, cdbSNP:199948087
complement(341)-t, cdbSNP:122445108
complement(346)-c, adbSNP:201353033
complement(350)-t, cdbSNP:149990714
complement(460)-dbSNP:
complement(460)-t, cdbSNP:5959371
complement(468)-g, cdbSNP:122445107
complement(485)-dbSNP:
complement(485)-t, cdbSNP:150801485
complement(520)-g, adbSNP:45574238
complement(733)-dbSNP:
complement(733)-t, cdbSNP:139919697
complement(800)-g, cdbSNP:122445103
complement(802)-c, adbSNP:188831993
complement(880)-dbSNP:
complement(880)-t, gdbSNP:45572441
complement(891)-g, adbSNP:122445111
968+dbSNP:
968+c, tdbSNP:122445105
complement(1052)-g, adbSNP:146012355
complement(1063)-g, adbSNP:142561199
complement(1078)-g, adbSNP:148015780
complement(1191)-g, cdbSNP:201301590
complement(1264)-g, adbSNP:143491422
complement(1265)-t, cdbSNP:149249195
complement(1273)-c, adbSNP:199780997
complement(1279)-g, cdbSNP:200288042
complement(1386)-g, adbSNP:138366560
complement(1400)-g, adbSNP:150484080
complement(1458)-t, cdbSNP:122445109
complement(1477)-g, adbSNP:141815992
complement(1489)-t, cdbSNP:185550133
complement(1536)-g, adbSNP:147954000
complement(1616)-t, cdbSNP:201503118
complement(1622)-g, cdbSNP:202011714
complement(1655)-g, cdbSNP:146863015
complement(1696)-t, cdbSNP:3134917
complement(1699)-g, adbSNP:199929884
complement(1738)-g, adbSNP:112173609
complement(1753)-t, gdbSNP:192674093
complement(1787)-c, adbSNP:142514925
complement(1849)-t, cdbSNP:151072312
complement(1865)-g, cdbSNP:35738915
complement(1877)-t, cdbSNP:148513102
complement(1880)-t, cdbSNP:201284965
complement(1925)-g, adbSNP:45528831
complement(2018)-t, cdbSNP:1051678
complement(2057)-g, cdbSNP:186742436
complement(2100)-t, cdbSNP:145678415
complement(2143)-g, cdbSNP:143492266
complement(2194)-g, adbSNP:1051679
complement(2232)-g, adbSNP:61752457
complement(2233)-t, cdbSNP:139997330
complement(2401)-g, cdbSNP:61752456
complement(2451)-g, adbSNP:1051680
complement(2698)-t, gdbSNP:200040756
complement(2730)-g, adbSNP:182402019
complement(2751)-c, adbSNP:191682105
complement(2762)-t, cdbSNP:142601264
complement(2763)-t, gdbSNP:139131007
complement(2772)-t, cdbSNP:45624939
complement(2827)-g, cdbSNP:61752455
complement(2841)-g, adbSNP:143558145
complement(2851)-t, cdbSNP:183498404
complement(2882)-t, cdbSNP:200343648
complement(2890)-g, cdbSNP:141180098
complement(2893)-g, adbSNP:148196649
complement(2899..2900)-, aaagaaaacdbSNP:71773978
complement(2912)-t, gdbSNP:145807475
complement(2929)-t, cdbSNP:137974888
complement(2952)-t, cdbSNP:143413618
complement(3007)-g, adbSNP:139376742
complement(3017)-g, cdbSNP:3088074
complement(3038)-g, cdbSNP:149232501
complement(3047)-g, cdbSNP:149195735
complement(3071)-t, adbSNP:35368973
complement(3130)-c, adbSNP:138256318
complement(3131..3132)-, gtgdbSNP:200211129
complement(3155)-t, cdbSNP:200709847
complement(3167)-g, cdbSNP:150429841
complement(3274)-g, adbSNP:140476563
complement(3282)-t, cdbSNP:56131991
complement(3390)-t, gdbSNP:151273832
complement(3443)-t, cdbSNP:143621153
complement(3454)-c, adbSNP:141202854
complement(3513)-t, cdbSNP:146521598
complement(3553)-t, cdbSNP:1051681
complement(3619)-g, adbSNP:3761507
complement(3759)-t, adbSNP:191563592
complement(3773)-g, cdbSNP:61758732
complement(3870)-t, gdbSNP:148456985
complement(3873)-t, adbSNP:144527582
complement(3919)-g, cdbSNP:1051682
complement(4033)-dbSNP:
complement(4033)-g, adbSNP:149717199
complement(4080)-dbSNP:
complement(4080)-t, cdbSNP:201588422
complement(4120)-t, cdbSNP:139540415
complement(4219)-dbSNP:
complement(4219)-t, cdbSNP:147160114
complement(4267)-t, cdbSNP:111725949
complement(4279)-g, adbSNP:199625659
complement(4292)-t, cdbSNP:143450825
complement(4294)-t, adbSNP:113595401
complement(4388)-dbSNP:
complement(4388)-t, cdbSNP:137867958
complement(4409)-t, cdbSNP:147331649
complement(4450)-dbSNP:
complement(4450)-g, adbSNP:112657099
complement(4471)-t, cdbSNP:141974120
complement(4525)-t, cdbSNP:148142375
complement(4627)-g, adbSNP:143785452
complement(4749)-c, adbSNP:181244850
complement(4867)-t, gdbSNP:148975763
complement(4891)-t, cdbSNP:25641
complement(5058)-dbSNP:
complement(5058)-g, adbSNP:122445093
complement(5072)-t, cdbSNP:122445094
complement(5094)-t, cdbSNP:122445106
complement(5098)-t, cdbSNP:145036475
complement(5182)-t, gdbSNP:122445095
complement(5233)-g, adbSNP:202114901
complement(5295)-t, adbSNP:45576533
complement(5353)-g, adbSNP:111870513
complement(5363)-t, cdbSNP:122445102
complement(5457)-dbSNP:
complement(5457)-g, adbSNP:122445104
complement(5503)-t, cdbSNP:141240580
complement(5575)-dbSNP:
complement(5575)-t, cdbSNP:146534157
complement(5581)-t, cdbSNP:149960511
complement(5666)-c, adbSNP:61752453
complement(5811)-g, adbSNP:45439799
complement(5821)-g, adbSNP:192385704
complement(5823)-c, adbSNP:151220806
complement(6200)-dbSNP:
complement(6200)-t, adbSNP:142180002
complement(6223)-t, cdbSNP:190170999
complement(6336)-t, adbSNP:122445096
complement(6381)-dbSNP:
complement(6381)-t, cdbSNP:122445110
complement(6482)-dbSNP:
complement(6482)-t, cdbSNP:122445097
complement(6624)-dbSNP:
complement(6624)-g, adbSNP:122445101
complement(6637)-g, adbSNP:148659669
complement(6707)-g, cdbSNP:199928157
complement(6720)-g, adbSNP:122445098
complement(6862)-g, adbSNP:147169853
complement(6950)-dbSNP:
complement(6950)-t, cdbSNP:199474698
complement(7043)-g, adbSNP:122445112
complement(7065)-t, adbSNP:189056841
complement(7084)-dbSNP:
complement(7084)-t, cdbSNP:145101346
complement(7105)-t, cdbSNP:192057045
complement(7156)-g, adbSNP:139457986
complement(7285)-g, cdbSNP:200762828
complement(7315)-dbSNP:
complement(7315)-g, adbSNP:3027525
complement(7343)-t, cdbSNP:147341551
complement(7388)-t, cdbSNP:122445099
complement(7394)-t, gdbSNP:122445100
complement(7405)-g, adbSNP:112385254
complement(7552)-t, cdbSNP:149242238
complement(7664)-g, cdbSNP:199543136
complement(7667)-t, cdbSNP:200478641
complement(7698)-t, cdbSNP:192340482
complement(7765)-t, cdbSNP:1051686
complement(7823)-g, adbSNP:187723317
complement(7924)-g, adbSNP:3027524
complement(8616)-c, adbSNP:184866222
complement(8619)-g, adbSNP:191191299
complement(8743)-t, cdbSNP:186766068
complement(8790)-g, adbSNP:111765955
complement(8952)-g, adbSNP:3134920
complement(9111)-t, gdbSNP:141454165
complement(9123)-t, gdbSNP:147763977
complement(9164)-, tdbSNP:139948612
complement(9246)-t, cdbSNP:183122923
complement(9349)-t, cdbSNP:6623513
complement(9600)-t, cdbSNP:191264448
complement(9908)-g, adbSNP:3134921
complement(10018)-t, adbSNP:3135467
complement(10482)-g, adbSNP:188467001
complement(10570)-g, adbSNP:183405599
complement(10646..10650)-, taaaadbSNP:201988178
complement(11131..11133)-, tgtdbSNP:199959934
complement(11133)-, tgtdbSNP:3830891
Gene SymbolATRX
Gene SynonymATR2; JMS; MRXHF1; RAD54; RAD54L; SFM1; SHS; XH2; XNP; ZNF-HX
ChromosomeX
Locus MapXq21.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000489 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. On-demand TBD TBD
NM_138270 Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 2, mRNA. On-demand TBD TBD
Title The genetics of neuroendocrine tumors .
Author Oberg,K.
Journal Semin. Oncol. 40 (1), 37-44 (2013)
Title Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations .
Author 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.
Journal Acta Neuropathol. 124 (5), 615-625 (2012)
Title Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma .
Author 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.
Journal Oncotarget 3 (10), 1194-1203 (2012)
Title Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas .
Author Jiao,Y., Killela,P.J., Reitman,Z.J., Rasheed,A.B., Heaphy,C.M., de Wilde,R.F., Rodriguez,F.J., Rosemberg,S., Oba-Shinjo,S.M., Nagahashi Marie,S.K., Bettegowda,C., Agrawal,N., Lipp,E., Pirozzi,C., Lopez,G., He,Y., Friedman,H., Friedman,A.H., Riggins,G.J., Holdhoff,M., Burger,P., McLendon,R., Bigner,D.D., Vogelstein,B., Meeker,A.K., Kinzler,K.W., Papadopoulos,N., Diaz,L.A. and Yan,H.
Journal Oncotarget 3 (7), 709-722 (2012)
Title Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway .
Author Lovejoy,C.A., Li,W., Reisenweber,S., Thongthip,S., Bruno,J., de Lange,T., De,S., Petrini,J.H., Sung,P.A., Jasin,M., Rosenbluh,J., Zwang,Y., Weir,B.A., Hatton,C., Ivanova,E., Macconaill,L., Hanna,M., Hahn,W.C., Lue,N.F., Reddel,R.R., Jiao,Y., Kinzler,K., Vogelstein,B., Papadopoulos,N. and Meeker,A.K.
Journal PLoS Genet. 8 (7), E1002772 (2012)
Title X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis .
Author Gibbons,R.J., Suthers,G.K., Wilkie,A.O., Buckle,V.J. and Higgs,D.R.
Journal Am. J. Hum. Genet. 51 (5), 1136-1149 (1992)
Title Nomenclature guidelines for X-linked mental retardation .
Author Mulley,J.C., Kerr,B., Stevenson,R. and Lubs,H.
Journal Am. J. Med. Genet. 43 (1-2), 383-391 (1992)
Title Smith-Fineman-Myers syndrome in two brothers .
Author Ades,L.C., Kerr,B., Turner,G. and Wise,G.
Journal Am. J. Med. Genet. 40 (4), 467-470 (1991)
Title Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) .
Author Sutherland,G.R., Gedeon,A.K., Haan,E.A., Woodroffe,P. and Mulley,J.C.
Journal Am. J. Med. Genet. 30 (1-2), 493-508 (1988)
Title RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression .
Author Shapiro,M.B. and Senapathy,P.
Journal Nucleic Acids Res. 15 (17), 7155-7174 (1987)


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