underlay 2 1
AK005040 Ncf1
200k Gtf2i
Gtf2ird1 400k Cyln2
Rfc2
600k Limk1 Eln 800k
Cldn4 AK017044
1000k AK003386 Wbscr14 Bcl7b
1200k Fzd9
Fkbp6 BE630793
1442910 Hip1 100%
50% 0k 2k 4k 6k 8k 10k 12k 14k 16k 18k 20k
AK005040 11
20k 22k 24k 26k 28k 30k 32k 34k 36k 38k 40k
AK005040 10 9 8 7 6 5 4 3
40k 42k 44k 46k 48k 50k 52k 54k 56k 58k 60k
AK005040 Gtf2ird2 2 1 1
60k 62k 64k 66k 68k 70k 72k 74k 76k 78k 80k
Gtf2ird2 2 3 4 5 6 7 8 9 10 11
80k 82k 84k 86k 88k 90k 92k 94k 96k 98k 100k Gtf2ird2 Ncf1 13 14 15 16 10 9 8 7 6 5 4 3 2 1 12 100%
50% 100k 102k 104k 106k 108k 110k 112k 114k 116k 118k 120k
Gtf2i 35 34 33 32 31 29 27 25 24 22 21
120k 122k 124k 126k 128k 130k 132k 134k 136k 138k 140k
Gtf2i 20 19 18 17 16 15 14 13
140k 142k 144k 146k 148k 150k 152k 154k 156k 158k 160k
Gtf2i 12 11 10 8 7 6 5
160k 162k 164k 166k 168k 170k 172k 174k 176k 178k 180k
Gtf2i 4 3
180k 182k 184k 186k 188k 190k 192k 194k 196k 198k 200k Gtf2i 2 1
100%
50% 200k 202k 204k 206k 208k 210k 212k 214k 216k 218k 220k
220k 222k 224k 226k 228k 230k 232k 234k 236k 238k 240k
Gtf2ird1 31 30 29 28 27 26 25 24 23
240k 242k 244k 246k 248k 250k 252k 254k 256k 258k 260k
Gtf2ird1 22 21 20 18 17 16 15 14 13 12 11
260k 262k 264k 266k 268k 270k 272k 274k 276k 278k 280k
Gtf2ird1 10 9 8 7 6 5 4
280k 282k 284k 286k 288k 290k 292k 294k 296k 298k 300k Gtf2ird1 3 2
100%
50% 300k 302k 304k 306k 308k 310k 312k 314k 316k 318k 320k
Gtf2ird1
320k 322k 324k 326k 328k 330k 332k 334k 336k 338k 340k
Gtf2ird1 1
340k 342k 344k 346k 348k 350k 352k 354k 356k 358k 360k
360k 362k 364k 366k 368k 370k 372k 374k 376k 378k 380k
Cyln2 14 13 12 11 10 9 8 7
380k 382k 384k 386k 388k 390k 392k 394k 396k 398k 400k Cyln2 6 5 4 3 2
100%
50% 400k 402k 404k 406k 408k 410k 412k 414k 416k 418k 420k
Cyln2 1
420k 422k 424k 426k 428k 430k 432k 434k 436k 438k 440k
440k 442k 444k 446k 448k 450k 452k 454k 456k 458k 460k
Rfc2 1 2 3 4
460k 462k 464k 466k 468k 470k 472k 474k 476k 478k 480k
Rfc2 Wbscr15 5 6 7 8 9 10 11 12 11 9 8 7 654 3 2
480k 482k 484k 486k 488k 490k 492k 494k 496k 498k 500k Wbscr15 Eif4h 1 7 6 5 3 2
100%
50% 500k 502k 504k 506k 508k 510k 512k 514k 516k 518k 520k
Eif4h 1
520k 522k 524k 526k 528k 530k 532k 534k 536k 538k 540k
Limk1 16 14 13 11 10 9 8 7 6 5
540k 542k 544k 546k 548k 550k 552k 554k 556k 558k 560k
Limk1 4 3 2 1
560k 562k 564k 566k 568k 570k 572k 574k 576k 578k 580k
Eln 37 36 34 32 29 28
580k 582k 584k 586k 588k 590k 592k 594k 596k 598k 600k Eln 27 25 24 22 21 20 19 17 16 14 13 12 11 10 8 7
100%
50% 600k 602k 604k 606k 608k 610k 612k 614k 616k 618k 620k
Eln 6 5 4 3 2 1
620k 622k 624k 626k 628k 630k 632k 634k 636k 638k 640k
640k 642k 644k 646k 648k 650k 652k 654k 656k 658k 660k
660k 662k 664k 666k 668k 670k 672k 674k 676k 678k 680k
680k 682k 684k 686k 688k 690k 692k 694k 696k 698k 700k
700k 702k 704k 706k 708k 710k 712k 714k 716k 718k 720k 100%
50% 720k 722k 724k 726k 728k 730k 732k 734k 736k 738k 740k
740k 742k 744k 746k 748k 750k 752k 754k 756k 758k 760k
760k 762k 764k 766k 768k 770k 772k 774k 776k 778k 780k
780k 782k 784k 786k 788k 790k 792k 794k 796k 798k 800k
800k 802k 804k 806k 808k 810k 812k 814k 816k 818k 820k
Cldn4 1
820k 822k 824k 826k 828k 830k 832k 834k 836k 838k 840k 100%
50% 840k 842k 844k 846k 848k 850k 852k 854k 856k 858k 860k
Cldn3 AK017044 1 5 4
860k 862k 864k 866k 868k 870k 872k 874k 876k 878k 880k
AK017044 3 2 1 1 2 AK004244
880k 882k 884k 886k 888k 890k 892k 894k 896k 898k 900k
AK008014 Stx1A 3 4 5 6 3 2 1 1 AK004244
900k 902k 904k 906k 908k 910k 912k 914k 916k 918k 920k
Stx1A 2 3 4 5 7 8 9 10
920k 922k 924k 926k 928k 930k 932k 934k 936k 938k 940k AK003386 AK019256 11 9 8 7 6 5 3 1 1 10Stx1A 100%
50% 940k 942k 944k 946k 948k 950k 952k 954k 956k 958k 960k
BE290321 5 4 3 2 1
960k 962k 964k 966k 968k 970k 972k 974k 976k 978k 980k
Wbscr14 1
980k 982k 984k 986k 988k 990k 992k 994k 996k 998k 1000k
Wbscr14 2 34 5 67 8
1000k 1002k 1004k 1006k 1008k 1010k 1012k 1014k 1016k 1018k 1020k
Wbscr14 Tbl2 9 10 13 15 16 17 1
1020k 1022k 1024k 1026k 1028k 1030k 1032k 1034k 1036k 1038k 1040k Tbl2 Bcl7b 2 3 4 5 6 7 1
100%
50% 1040k 1042k 1044k 1046k 1048k 1050k 1052k 1054k 1056k 1058k 1060k
Bcl7b Baz1b 2 3 4 5 6 1
1060k 1062k 1064k 1066k 1068k 1070k 1072k 1074k 1076k 1078k 1080k
Baz1b 2 3 4 5 6
1080k 1082k 1084k 1086k 1088k 1090k 1092k 1094k 1096k 1098k 1100k
Baz1b 7 8 9 10 11 12 6
1100k 1102k 1104k 1106k 1108k 1110k 1112k 1114k 1116k 1118k 1120k
Baz1b Fzd9 13 14 15 16 17 18 1
1120k 1122k 1124k 1126k 1128k 1130k 1132k 1134k 1136k 1138k 1140k 1 Fzd9 100%
50% 1140k 1142k 1144k 1146k 1148k 1150k 1152k 1154k 1156k 1158k 1160k
1160k 1162k 1164k 1166k 1168k 1170k 1172k 1174k 1176k 1178k 1180k
Fkbp6 8
1180k 1182k 1184k 1186k 1188k 1190k 1192k 1194k 1196k 1198k 1200k
Fkbp6
1200k 1202k 1204k 1206k 1208k 1210k 1212k 1214k 1216k 1218k 1220k
Fkbp6 7 6 5 4 3 2 1
1220k 1222k 1224k 1226k 1228k 1230k 1232k 1234k 1236k 1238k 1240k BF522554 1 2 34 5 6 12 BE630793 100%
50% 1240k 1242k 1244k 1246k 1248k 1250k 1252k 1254k 1256k 1258k 1260k
BE630793 Pom121 3 4 56 7 8 11 13 12 11 10 87 6 5 4
1260k 1262k 1264k 1266k 1268k 1270k 1272k 1274k 1276k 1278k 1280k
Pom121 3 2 1 31 Hip1
1280k 1282k 1284k 1286k 1288k 1290k 1292k 1294k 1296k 1298k 1300k
Hip1 30 29 28 27 26 25 23 22 21 19 18
1300k 1302k 1304k 1306k 1308k 1310k 1312k 1314k 1316k 1318k 1320k
Hip1 17 16 14 13 12 10 9 8
1320k 1322k 1324k 1326k 1328k 1330k 1332k 1334k 1336k 1338k 1340k Hip1 7 6 5 4 3 2
100%
50% 1340k 1342k 1344k 1346k 1348k 1350k 1352k 1354k 1356k 1358k 1360k
Hip1
1360k 1362k 1364k 1366k 1368k 1370k 1372k 1374k 1376k 1378k 1380k
Hip1
1380k 1382k 1384k 1386k 1388k 1390k 1392k 1394k 1396k 1398k 1400k
Hip1
1400k 1402k 1404k 1406k 1408k 1410k 1412k 1414k 1416k 1418k 1420k
Hip1 1
1420k 1422k 1424k 1426k 1428k 1430k 1432k 1434k 1436k 1438k 1440k 100%
50% 1440k 1442910 •37102 65736 (0; LocusLink) click to see LocusLink entry ☞ •73061 106999 (0; AminoAcid) click to see protein entry ☞ •110618 118472 (2; JAX) click to see Jackson Laboratory entry ☞ •110618 118472 (0; LocusLink) click to see LocusLink entry ☞ •110618 118472 (1; AminoAcid) click to see protein entry ☞ •126709 203566 (1; AminoAcid) click to see protein entry ☞ •126709 203566 (2; PubMed) Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. Osborne LR, Camp- bell T,Daradich A, Scherer SW,Tsui LC. Genomics. 1999 Apr 15;57(2):279-84. click to see abstract ☞ Atranscription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. Tassabehji M, Carette M, Wilmot C, Donnai D, Read AP,Metcalfe K. Eur J Hum Genet. 1999 Oct-Nov;7(7):737-47. click to see abstract ☞ Aduplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Perez Jurado LA, Wang YK, Peoples R, Coloma A, Cruces J, FranckeU.Hum Mol Genet. 1998 Mar;7(3):325-34. click to see abstract ☞ Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. FrankeY,Peo- ples RJ, FranckeU.Cytogenet Cell Genet. 1999;86(3-4):296-304. click to see abstract ☞ Amouse single-copygene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region. Wang YK, Perez-Jurado LA, FranckeU.Genomics. 1998 Mar 1;48(2):163-70. click to see abstract ☞ Alternatively spliced isoforms of TFII-I. Complexformation, nuclear translocation, and differential gene regulation. Cheriyath V,Roy AL. JBiol Chem. 2000 Aug 25;275(34):26300-8. click to see abstract ☞ Characterization and gene structure of a novelretinoblastoma-protein- associated protein similar to the transcription regulator TFII-I. Yan X, Zhao X, Qian M, Guo N, Gong X, Zhu X. Biochem J. 2000 Feb 1;345 Pt 3:749-57. click to see abstract ☞ Regulation of TFII-I activity by phosphorylation. Novina CD, Cheriyath V,Roy AL. J Biol Chem. 1998 Dec 11;273(50):33443-8. click to see abstract ☞ •126709 203566 (0; LocusLink) click to see LocusLink entry ☞ •246534 345425 (1; LocusLink) click to see LocusLink entry ☞ •246534 345425 (0; PubMed) Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix do- mains. Bayarsaihan D, Ruddle FH. Proc Natl Acad Sci U S A 2000 Jun 20;97(13):7342-7 click to see abstract ☞ •246534 345425 (2; AminoAcid) click to see protein entry ☞ •380736 424019 (1; JAX) click to see Jackson Laboratory link ☞ •380736 424019 (2; PubMed) The murine CYLN2 gene: genomic organization, chromosome local- ization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region. Hoogenraad CC, Eussen BH, Langeveld A, van Haperen R, WinterbergS,Wouters CH, Grosveld F,DeZeeuw CI, Galjart N. Genomics. 1998 Nov 1;53(3):348-58. click to see abstract ☞ •380736 424019 (3; AminoAcid) click to see protein link ☞ •380736 424019 (0; LocusLink) click to see LocusLink entry ☞ •471941 487499 (2; JAX) click to see Jackson Laboratory link ☞ •471941 487499 (3; PubMed) The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion. Peoples R, Perez-Jurado L, Wang YK, Kaplan P,FranckeU.AmJHum Genet. 1996 Jun;58(6):1370-3. no abstract available ☞ Assignment of the 36.5-kDa (RFC5), 37-kDa (RFC4), 38-kDa (RFC3), and 40-kDa (RFC2) subunit genes of human replication factor C to chromosome bands 12q24.2-q24.3, 3q27, 13q12.3-q13, and 7q11.23. Okumura K, Nogami M, Taguchi H, Dean FB, Chen M, Pan ZQ, Hurwitz J, Shiratori A, Murakami Y,Ozawa K,etal. Ge- nomics. 1995 Jan 1;25(1):274-8. click to see abstract ☞ •471941 487499 (0; AminoAcid) click to see protein link ☞ •471941 487499 (1; LocusLink) click to see LocusLink entry ☞ •489194 504182 (2; AminoAcid) click to see protein entry ☞ •489194 504182 (1; PubMed) Divergent human and mouse orthologs of a novelgene (WB- SCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. Doyle JL, DeSilvaU,Miller W, Green ED. Cytogenet Cell Genet. 2000;90(3-4):285-90. click to see abstract ☞ Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. Martindale DW,Wilson MD, Wang D, BurkeRD, Chen X, Duronio V,Koop BF. Mamm Genome. 2000 Oct;11(10):890-8. click to see abstract ☞ •489194 504182 (0; LocusLink) click to see LocusLink entry ☞ •509052 528504 (2; JAX) click to see Jackson Laboratory entry ☞ •509052 528504 (0; LocusLink) click to see LocusLink entry ☞ •509052 528504 (1; PubMed) Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. Martindale DW,Wilson MD, Wang D, BurkeRD, Chen X, Duronio V,Koop BF. Mamm Genome. 2000 Oct;11(10):890-8. click to see abstract ☞ •545221 577766 (1; LocusLink) click to see LocusLink entry ☞ •545221 577766 (2; AminoAcid) click to see protein entry ☞ •545221 577766 (3; PubMed) Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase. Arber S, Barbayannis FA, Hanser H, Schneider C, Stanyon CA, Bernard O, Caroni P. Nature. 1998 Jun 25;393(6687):805-9. click to see abstract ☞ Specificity of single LIM motifs in targeting and LIM/LIM interac- tions in situ. Arber S, Caroni P.Genes Dev. 1996 Feb 1;10(3):289-300. click to see abstract ☞ Regulation of actin dynamics: The LIM kinase connection. Lawler S. Curr Biol. 1999 Nov4;9(21):R800-2. click to see abstract ☞ The N-terminal LIM domain negatively regulates the kinase activity of LIM-kinase 1. Nagata K, Ohashi K, Yang N, Mizuno K. Biochem J. 1999 Oct 1;343 Pt 1:99-105. click to see abstract ☞ LIM-kinase1. Stanyon CA, Bernard O. Int J Biochem Cell Biol. 1999 Mar-Apr;31(3-4):389-94. Review. click to see abstract ☞ Activation of LIM-kinase by Pak1 couples Rac/Cdc42 GTPase sig- nalling to actin cytoskeletal dynamics. Edwards DC, Sanders LC, Bokoch GM, Gill GN. Nat Cell Biol. 1999 Sep;1(5):253-9. click to see abstract ☞ LIM kinase 1 accumulates in presynaptic terminals during synapse maturation. Wang JY,Wigston DJ, Rees HD, Levey AI, Falls DL. J Comp Neurol. 2000 Jan 17;416(3):319-34. click to see abstract ☞ LIM-kinase1 hemizygosity implicated in impaired visuospatial con- structive cognition. Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF,Klein BP,Ensing GJ, Everett LA, Green ED, Proschel C, Gutowski NJ, Noble M, Atkinson DL, Odel- bergSJ, Keating MT.Cell. 1996 Jul 12;86(1):59-69. click to see ab- stract ☞ LIM-kinase deleted in Williams syndrome. Tassabehji M, Metcalfe K, Fergusson WD, Carette MJ, Dore JK, Donnai D, Read AP, Proschel C, Gutowski NJ, Mao X, Sheer D. Nat Genet. 1996 Jul;13(3):272-3. No abstract available. ☞ Assignment of the human and mouse LIM-kinase genes (LIMK1; Limk1) to chromosome bands 7q11.23 and 5G1, respectively,byin situ hybridization. Mao X, Jones TA,Williamson J, Gutowski NJ, Proschel C, Noble M, Sheer D. Cytogenet Cell Genet. 1996;74(3):190-1. No abstract available. ☞ •545221 577766 (0; JAX) click to see Jackson Laboratory entry ☞ •592885 636413 (0; LocusLink) click to see LocusLink entry ☞ •592885 636413 (3; JAX) click to see Jackson Laboratory entry ☞ •592885 636413 (2; PubMed) Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Nickerson E, GreenbergF, Keating MT,McCaskill C, Shaffer LG. Am J Hum Genet. 1995 May;56(5):1156-61. click to see abstract ☞ Elastin is an essential determinant of arterial morphogenesis. Li DY, BrookeB,Davis EC, Mecham RP,Sorensen LK, Boak BB, Eich- wald E, Keating MT.Nature. 1998 May 21;393(6682):276-80. click to see abstract ☞ Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. Ewart AK, Jin W,Atkinson D, Morris CA, Keating MT.JClin Invest. 1994 Mar;93(3):1071-7. click to see abstract ☞ Human elastin gene: newevidence for localization to the long arm of chromosome 7. Fazio MJ, Mattei MG, Passage E, Chu ML, Black D, Solomon E, Davidson JM, Uitto J. Am J Hum Genet. 1991 Apr;48(4):696-703. click to see abstract ☞ Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P,Stock AD, Leppert M, Keating MT.Nat Genet. 1993 Sep;5(1):11-6. click to see abstract ☞ Novelarterial pathology in mice and humans hemizygous for elastin. Li DY, Faury G, Taylor DG, Davis EC, Boyle WA, Mecham RP, Stenzel P,Boak B, Keating MT.JClin Invest. 1998 Nov 15;102(10):1783-7. click to see abstract ☞ Regulation of elastin gene expression. Rosenbloom J, Bashir M, Yeh H, Rosenbloom J, Ornstein-Goldstein N, Fazio M, Kahari VM, Uitto J. Ann N Y Acad Sci. 1991;624:116-36. click to see abstract ☞ Deletion analyses of 5’-flanking region of the human elastin gene. Delineation of functional promoter and regulatory cis-elements. Ka- hari VM, Fazio MJ, Chen YQ, Bashir MM, Rosenbloom J, Uitto J. J Biol Chem. 1990 Jun 5;265(16):9485-90. click to see abstract ☞ Characterization of the complete human elastin gene. Delineation of unusual features in the 5’-flanking region. Bashir MM, Indik Z, Yeh H, Ornstein-Goldstein N, Rosenbloom JC, Abrams W,Fazio M, Uit- to J, Rosenbloom J. J Biol Chem. 1989 May 25;264(15):8887-91. click to see abstract ☞ Regulation of elastin gene expression: evidence for functional pro- moter activity in the 5’-flanking region of the human gene. Fazio MJ, Kahari VM, Bashir MM, Saitta B, Rosenbloom J, Uitto J. J In- vest Dermatol. 1990 Feb;94(2):191-6. click to see abstract ☞ Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNAlibrary: further elucidation of alternative splic- ing utilizing exon-specific oligonucleotides. Fazio MJ, Olsen DR, Kauh EA, Baldwin CT,Indik Z, Ornstein-Goldstein N, Yeh H, Rosenbloom J, Uitto J. J Invest Dermatol. 1988 Nov;91(5):458-64. click to see abstract ☞ Isolation and characterization of human elastin cDNAs, and age-as- sociated variation in elastin gene expression in cultured skin fibrob- lasts. Fazio MJ, Olsen DR, Kuivaniemi H, Chu ML, Davidson JM, Rosenbloom J, Uitto J. Lab Invest. 1988 Mar;58(3):270-7. click to see abstract ☞ •592885 636413 (1; AminoAcid) click to see protein entry ☞ •834305 836093 (0; AminoAcid) click to see protein entry ☞ •834305 836093 (1; PubMed) Claudin multigene family encoding four-transmembrane domain pro- tein components of tight junction strands. Morita K, Furuse M, Fuji- moto K, Tsukita S. Proc Natl Acad Sci U S A. 1999 Jan 19;96(2):511-6. click to see abstract ☞ Clostridium perfringens enterotoxin utilizes twostructurally related membrane proteins as functional receptors in vivo.Katahira J, Sugiyama H, Inoue N, Horiguchi Y,Matsuda M, Sugimoto N. J Biol Chem. 1997 Oct 17;272(42):26652-8. click to see abstract ☞ •834305 836093 (2; LocusLink) click to see LocusLink entry ☞ •875566 876651 (3; LocusLink) click to see LocusLink entry ☞ •875566 876651 (6; JAX) click to see The Jackson Laboratory entry ☞ •875566 876651 (5; PubMed) Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion. Paperna et al. Genomics 1998 Dec 15;54(3):453-9. click to see abstract ☞ click to see full text article ☞ Claudin multigene family encoding four-transmembrane domain pro- tein components of tight junction strands. Morita et al. Proc Natl Acad Sci U S A 1999 Jan 19;96(2):511-6. click to see abstract ☞ click to see full text article ☞ •875566 876651 (4; AminoAcid) click to see protein entry ☞ •876611 890141 (2; LocusLink) click to see LocusLink entry ☞ •876611 890141 (0; AminoAcid) click to see protein entry ☞ •876611 890141 (1; PubMed) Functional annotation of a full-length mouse cDNAcollection. Kawaietal., Nature. 2001 Feb 8;409(6821):685-90. ☞ •898890 901353 (3; JAX) click to see The Jackson Laboratory entry ☞ •898890 901353 (2; NCBI) click to see Entrez entry ☞ •898890 901353 (1; PubMed) Functional annotation of a full-length mouse cDNAcollection. Kawaietal., Nature. 2001 Feb 8;409(6821):685-90. click to see ab- stract ☞ •898890 901353 (0; LocusLink) click to see LocusLink entry ☞ •901301 902316 (4; JAX) click to see The Jackson Laboratory entry ☞ •901301 902316 (5; PubMed) Normalization and subtraction of cap-trapper-selected cDNAs to pre- pare full-length cDNAlibraries for rapid discovery of newgenes. Carninci P,Shibata Y,Hayatsu N, Sugahara Y,Shibata K, Itoh M, Konno H, Okazaki Y,Muramatsu M, Hayashizaki Y.Genome Res. 2000 Oct;10(10):1617-30. click to see abstract ☞ •901301 902316 (6; LocusLink) click to see LocusLink entry ☞ •901301 902316 (7; NCBI) click to see Entrez entry ☞ •912750 940277 (1; LocusLink) click to see LocusLink entry ☞ •912750 940277 (0; JAX) click to see The Jackson Laboratory entry ☞ •912750 940277 (2; AminoAcid) click to see protein entry ☞ •912750 940277 (3; PubMed) Expression analysis and protein localization of the human HPC-1/syntaxin 1A, agene deleted in Williams syndrome. Botta et al. Genomics 1999 Dec 15;62(3):525-8. click to see abstract ☞ click to see full text article ☞ Detection of an atypical 7q11.23 deletion in Williams syndrome pa- tients which does not include the STX1A and FZD3 genes. Botta et al. Med Genet 1999 Jun;36(6):478-80. click to see abstract ☞ click to see full text article ☞ Hemizygous deletion of the HPC-1/syntaxin 1A gene (STX1A) in patients with Williams syndrome. Nakayama et al. Cytogenet Cell Genet 1998;82(1-2):49-51. click to see abstract ☞ Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome. Osborne et al. Am J Hum Genet 1997 Aug;61(2):449-52. click to see abstract ☞ •942137 953269 (0; PubMed) RIKEN integrated sequence analysis (RISA) system--384-format se- quencing pipeline with 384 multicapillary sequencer.Shibata et al., Genome Res. 2000 Nov;10(11):1757-71. click to see abstract ☞ Normalization and subtraction of cap-trapper-selected cDNAs to pre- pare full-length cDNAlibraries for rapid discovery of newgenes. Carninci P,Shibata Y,Hayatsu N, Sugahara Y,Shibata K, Itoh M, Konno H, Okazaki Y,Muramatsu M, Hayashizaki Y.Genome Res. 2000 Oct;10(10):1617-30. click to see abstract ☞ •942137 953269 (1; AminoAcid) click to see protein entry ☞ •942137 953269 (2; LocusLink) click to see LocusLink entry ☞ •953404 954543 (0; LocusLink) click to see LocusLink entry ☞ •962977 967327 (0; NCBI) click to see EST entry ☞ •996079 1027062 (2; LocusLink) click to see LocusLink entry ☞ •996079 1027062 (0; PubMed) Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Meng et al. Hum Genet 1998 Nov;103(5):590-9. click to see abstract ☞ click to see full text article ☞ WBSCR14, a putative transcription factor gene deleted in Williams- Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. de Luis et al. Eur J Hum Genet 2000 Mar;8(3):215-22. click to see abstract ☞ •996079 1027062 (1; AminoAcid) click to see protein entry ☞ •996079 1027062 (3; JAX) click to see The Jackson Laboratory entry ☞ •1038900 1049313 (3; LocusLink) click to see LocusLink entry ☞ •1038900 1049313 (0; PubMed) Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Meng et al. Hum Genet 1998 Nov;103(5):590-9. click to see abstract ☞ click to see full text article ☞ TBL2, a noveltransducin family member in the WBS deletion: char- acterization of the complete sequence, genomic structure, transcrip- tional variants and the mouse ortholog. Perez Jurado et al. Cytogenet Cell Genet 1999;86(3-4):277-84. click to see abstract ☞ •1038900 1049313 (1; AminoAcid) click to see protein entry ☞ •1038900 1049313 (2; JAX) click to see The Jackson Laboratory entry ☞ •1057668 1071021 (0; JAX) click to see The Jackson Laboratory entry ☞ •1057668 1071021 (1; AminoAcid) click to see protein entry ☞ •1057668 1071021 (2; LocusLink) click to see LocusLink entry ☞ •1057668 1071021 (3; PubMed) Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Meng et al. Hum Genet 1998 Nov;103(5):590-9. click to see abstract ☞ click to see full text article ☞ The BCL7 gene family: deletion of BCL7B in Williams syndrome. Jadayel et al. Gene 1998 Dec 11;224(1-2):35-44. click to see ab- stract ☞ •1076535 1133789 (0; PubMed) Identification of the WBSCR9 gene, encoding a noveltranscriptional regulator,inthe Williams-Beuren syndrome deletion at 7q11.23. Peoples et al. Cytogenet Cell Genet 1998;82(3-4):238-46. click to see the abstract ☞ Anovelhuman gene, WSTF,isdeleted in Williams syndrome. Lu et al. Genomics 1998 Dec 1;54(2):241-9. click to see the abstract ☞ click to see full text article ☞ •1076535 1133789 (1; AminoAcid) click to see protein entry ☞ •1076535 1133789 (3; LocusLink) click to see LocusLink entry ☞ •1076535 1133789 (2; JAX) click to see The Jackson Laboratory entry ☞ •1138476 1140251 (0; JAX) click to see The Jackson Laboratory entry ☞ •1138476 1140251 (1; AminoAcid) click to see protein entry ☞ •1138476 1140251 (2; PubMed) Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome. Wang et al. Genomics 1999 Apr 15;57(2):235-48. Wang et al. Genomics 1999 Apr 15;57(2):235-48. click to see abstract ☞ click to see full text article ☞ Anovelhuman homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome dele- tion at 7q11.23. Wang et al. Hum Mol Genet 1997 Mar;6(3):465-72. click to see abstract ☞ click to see full text article ☞ •1138476 1140251 (3; LocusLink) click to see LocusLink entry ☞ •1180967 1239254 (0; JAX) click to viewThe Jackson Laboratory entry ☞ •1180967 1239254 (3; NCBI) click to see Entrez entry ☞ •1180967 1239254 (4; TIGR) click to see EST cluster TC110486 ☞ •1180967 1239254 (2; PubMed) Anovelhuman gene FKBP6 is deleted in Williams syndrome. Meng et al. enomics 1998 Sep 1;52(2):130-7. click to see abstract ☞ click to see full text article ☞ •1180967 1239254 (1; AminoAcid) click to see protein entry ☞ •1242581 1256609 (0; NCBI) click to see NCBI entry ☞ click to see EST BF522554 sequence ☞ •1259248 1265404 (1; NCBI) click to see Entrez entry ☞ •1259248 1265405 (0; TIGR) click to see The TIGR Mouse Gene IndexTC119282 ☞ related protein ☞ click to see The TIGR Mouse Gene IndexTC153906 ☞ •1265410 1283773 (0; NCBI) click to see Entrez entry ☞ •1299244 1434417 (0; LocusLink) click to see LocusLink entry ☞ •1299244 1434417 (1; PubMed) Recent advances on the pathogenesis of Huntington’sdisease. Pe- tersen et al. Exp Neurol. 1999 May;157(1):1-18. Reviewclick to see abstract ☞ click to see full text article ☞ Fusion of Huntingtin interacting protein 1 to platelet-derivedgrowth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). Ross et al. Blood. 1998 Jun 15;91(12):4419-26. click to see abstract ☞ click to see full text article ☞ Localization of the human HIP1 gene close to the elastin (ELN) lo- cus on 7q11.23. Wedemeyer et al. Genomics. 1997 Dec 1;46(2):313-5. click to see abstract ☞ click to see full text article ☞ HIP-I: a huntingtin interacting protein isolated by the yeast two-hy- brid system. Wanker et al. Hum Mol Genet 1997 Mar;6(3):487-95. click to see abstract ☞ click to see full text article ☞ HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Kalchman et al. Nat Genet 1997 May;16(1):44-53. click to see abstract ☞ •1299244 1434417 (2; JAX) click to see The Jackson Laboratory entry ☞ •1339043 1434417 (3; NCBI) click to see NCBI entry ☞ •1434234 1434411 (4; NCBI) click to see Entrez entry ☞ Gene Exon UTR RNA Simple MIR Other SINE LINE1 LINE2 LTR Other repeat CpG/GpC≥0.60 CpG/GpC≥0.75
Williams Region
Fri Sep 14 15:29:23 EDT 2001 http://bio.cse.psu.edu/pipmaker/ Annotations legend
·· LocusLink : Blue ·· TIGR : Orange ·· MGI : Purple ·· UniGene : Pink ·· AminoAcid : LightBlue ·· NCBI : Cyan ·· PubMed : Red ·· JAX : Green
Underlays legend
·· fwd_exon : LightBlue ·· fwd_UTR : LightOrange ·· rev_exon : LightBlue ·· rev_UTR : LightOrange ·· intron : LightYellow ·· EST : LightGreen ·· documented_UTR : LightOrange ·· 70 : Pink ·· 80 : LightRed ·· 90 : Red