• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.


RefSeq Accession Definition Services Price Order
NM_133433 Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_133433.3, 189163519
Length 9841 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.
Product nipped-B-like protein isoform A
Comment

Summary: This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (A) encodes the longer isoform (A).

RefSeq NP_597677.2
CDS 500..8914
Misc Feature(1)473..475
Misc Feature(2)473..475
Misc Feature(3)947..949
Misc Feature(4)947..949
Misc Feature(5)983..985
Misc Feature(6)1265..1267
Misc Feature(7)1412..1414
Misc Feature(8)1415..1417
Misc Feature(9)1451..1453
Misc Feature(10)1451..1453
Misc Feature(11)1547..1549
Misc Feature(12)1547..1549
Misc Feature(13)1631..1633
Misc Feature(14)2435..2437
Misc Feature(15)<2504..3250
Misc Feature(16)2636..2638
Misc Feature(17)2636..2638
Misc Feature(18)2735..2737
Misc Feature(19)3044..3046
Misc Feature(20)3047..3049
Misc Feature(21)3119..3121
Misc Feature(22)3128..3130
Misc Feature(23)3233..3235
Misc Feature(24)3485..3526
Misc Feature(25)3752..3754
Misc Feature(26)3764..3766
Misc Feature(27)3764..3766
Misc Feature(28)3767..3769
Misc Feature(29)3767..3769
Misc Feature(30)3785..3787
Misc Feature(31)3785..3787
Misc Feature(32)3947..3949
Misc Feature(33)3953..3955
Misc Feature(34)3959..3961
Misc Feature(35)3977..3979
Misc Feature(36)5798..5914
Misc Feature(37)5879..6004
Misc Feature(38)6026..6142
Misc Feature(39)6332..6451
Misc Feature(40)7178..7300
Misc Feature(41)7319..7870
Misc Feature(42)7436..7552
Misc Feature(43)8024..8026
Misc Feature(44)8030..8032
Misc Feature(45)8036..8038
Misc Feature(46)8042..8044
Misc Feature(47)8471..8473
Misc Feature(48)8471..8473
Misc Feature(49)8498..8500
Misc Feature(50)8513..8515
Exon (1)1..420
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (2)421..563
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (3)564..729
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (4)730..857
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (5)858..957
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (6)958..1109
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (7)1110..1270
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (8)1271..1367
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (9)1368..1994
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (10)1995..3620
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (11)3621..3803
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (12)3804..4001
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (13)4002..4073
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (14)4074..4163
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (15)4164..4267
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (16)4268..4354
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (17)4355..4586
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (18)4587..4738
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (19)4739..4819
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (20)4820..4920
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (21)4921..5059
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (22)5060..5142
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (23)5143..5275
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (24)5276..5419
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (25)5420..5509
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (26)5510..5724
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (27)5725..5827
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (28)5828..5926
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (29)5927..6073
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (30)6074..6208
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (31)6209..6307
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (32)6308..6361
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (33)6362..6470
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (34)6471..6607
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (35)6608..6748
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (36)6749..6842
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (37)6843..6997
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (38)6998..7088
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (39)7089..7262
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (40)7263..7453
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (41)7454..7561
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (42)7562..7762
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (43)7763..7909
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (44)7910..8184
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (45)8185..8359
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (46)8360..8548
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Exon (47)8549..9841
Gene:NIPBL
Gene Synonym:CDLS; CDLS1; IDN3; IDN3-B; Scc2
Translation MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDN LVSQLVHSLNQVSTDHIELKDNLGSDDPEGDIPVLLQAVLARSPNVFREKSMQNRYVQSG MMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAP QSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNIHDNKVSGPLSGNSANHHADNPR HGSSEDYLHMVHRLSSDDGDSSTMRNAASFPLRSPQPVCSPAGSEGTPKGSRPPLILQSQ SLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISSPSKDSTKLTL RLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCL SQQEQTAFLPANQVPVLQQNTSVAAKQPQTSVVQNQQQISQQGPIYDEVELDALAEIERI ERESAIERERFSKEVQDKDKPLKKRKQDSYPQEAGGATGGNRPASQETGSTGNGSRPALM VSIDLHQAGRVDSQASITQDSDSIKKPEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETP KKKSDPELSKSEMKQSESRLAESKPNENRLVETKSSENKLETKVETQTEELKQNESRTTE CKQNESTIVEPKQNENRLSDTKPNDNKQNNGRSETTKSRPETPKQKGESRPETPKQKSDG HPETPKQKGDGRPETPKQKGESRPETPKQKNEGRPETPKHRHDNRRDSGKPSTEKKPEVS KHKQDTKSDSPRLKSERAEALKQRPDGRSVSESLRRDHDNKQKSDDRGESERHRGDQSRV RRPETLRSSSRNEHGIKSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDS NKSRSDKLGFKSPTSKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRSGALKNFVIPK IKRDKDGNVTQETKKMEMKGEPKDKVEKIGLVEDLNKGAKPVVVLQKLSLDDVQKLIKDR EDKSRSSLKPIKNKPSKSNKGSIDQSVLKELPPELLAEIESTMPLCERVKMNKRKRSTVN EKPKYAEISSDEDNDSDEAFESSRKRHKKDDDKAWEYEERDRRSSGDHRRSGHSHEGRRS SGGGRYRNRSPSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTPEEMMDSSTFK RFTASIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKAMGIMDKLSTD KTVKVLNILEKNIQDGSKLSTLLNHNNDTEEEERLWRDLIMERVTKSADACLTTINIMTS PNMPKAVYIEDVIERVIQYTKFHLQNTLYPQYDPVYRLDPHGGGLLSSKAKRAKCSTHKQ RVIVMLYNKVCDIVSSLSELLEIQLLTDTTILQVSSMGITPFFVENVSELQLCAIKLVTA VFSRYEKHRQLILEEIFTSLARLPTSKRSLRNFRLNSSDMDGEPMYIQMVTALVLQLIQC VVHLPSSEKDSNAEEDSNKKIDQDVVITNSYETAMRTAQNFLSIFLKKCGSKQGEEDYRP LFENFVQDLLSTVNKPEWPAAELLLSLLGRLLVHQFSNKSTEMALRVASLDYLGTVAARL RKDAVTSKMDQGSIERILKQVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQW FRDTTLETEKAMKSQKDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFST LKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEVV AVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDT GISVRKRVIKILRDICIEQPTFPKITEMCVKMIRRVNDEEGIKKLVNETFQKLWFTPTPH NDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEEDSSYKPVKKACTQLVDNLVE HILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPYLTTKCSTQND FMVICNVAKILELVVPLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVT QNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGALCRHFDFDLED FKGNSKVNIKDKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNIL SDKNSSVNLKIQVLKNLQTYLQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQ LYLKQVLEAFFHTQSSVRHFALNVIALTLNQGLIHPVQCVPYLIAMGTDPEPAMRNKADQ QLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIR GNRQHRRAFLISLLNLFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVS GSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRKRVDSDSDSDSEDDIN SVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAI NRKTGVHFHPKQTLDFLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVS ASTNARNKAITSLLGGGSPKNNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAAQ MNESVDVMDVIAICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLV PWVDTIKESDIIYKKIALTSANKLTNKVVQTLRSLYAAKDGTSS
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Position Chain Variation Link
167+dbSNP:
167+c, tdbSNP:201682335
401+a, gdbSNP:1494625
501+a, tdbSNP:121918264
632+dbSNP:
632+c, tdbSNP:80358367
678+a, gdbSNP:142703446
691+, gdbSNP:80358364
697+c, gdbSNP:146033170
727+c, gdbSNP:74401909
793+dbSNP:
793+c, tdbSNP:142184978
832+c, tdbSNP:199569761
884+dbSNP:
884+c, tdbSNP:141976717
959+dbSNP:
959+a, cdbSNP:139514413
960+a, gdbSNP:200692598
965+a, gdbSNP:146321563
1033+c, tdbSNP:148542094
1034+a, gdbSNP:142923613
1084+c, gdbSNP:80358360
1114+dbSNP:
1114+a, gdbSNP:150678035
1177+g, tdbSNP:192822119
1183+c, tdbSNP:111957845
1207+g, tdbSNP:139894113
1280+dbSNP:
1280+g, tdbSNP:16903425
1284+c, tdbSNP:147963155
1296+a, tdbSNP:141927128
1303+a, gdbSNP:144238532
1321+c, tdbSNP:200429152
1327+a, gdbSNP:145501067
1356+a, gdbSNP:148862607
1447+dbSNP:
1447+a, gdbSNP:201213428
1460+a, cdbSNP:138720101
1518+a, gdbSNP:111963024
1555+c, tdbSNP:200440893
1650+c, tdbSNP:2291703
1711+c, tdbSNP:80358349
1727+a, gdbSNP:141010980
1774+a, gdbSNP:202230820
1820+a, gdbSNP:144853101
1823..1824+, cdbSNP:34453758
1824+c, tdbSNP:138765912
1842+c, tdbSNP:200785457
1865+a, cdbSNP:141937865
1875+g, tdbSNP:150837768
1944..1947+, gagadbSNP:80358382
1987+a, gdbSNP:188309267
2006+dbSNP:
2006+, adbSNP:34314728
2025+c, gdbSNP:80358352
2094+g, tdbSNP:138210440
2111+c, gdbSNP:28638115
2168+a, gdbSNP:201051655
2171+a, gdbSNP:201295325
2182+a, tdbSNP:147230401
2200+g, tdbSNP:149578437
2220+a, gdbSNP:144289137
2296+a, gdbSNP:140891645
2306+a, cdbSNP:138828510
2315+a, cdbSNP:147532293
2332+a, tdbSNP:199546324
2334+a, gdbSNP:200774440
2390+g, tdbSNP:142820200
2419+a, gdbSNP:144198622
2464+g, tdbSNP:80358350
2484+a, gdbSNP:140100861
2487+a, cdbSNP:149892167
2491+c, tdbSNP:116049172
2516+a, cdbSNP:75088717
2520+a, gdbSNP:3822471
2536+c, tdbSNP:200173176
2564+a, tdbSNP:201482152
2580+a, gdbSNP:144812404
2609+a, gdbSNP:146756149
2686+a, tdbSNP:140450739
2718+a, gdbSNP:148420552
2755+a, gdbSNP:148075057
2793+a, gdbSNP:185678374
2848+a, gdbSNP:141851878
2851+a, gdbSNP:61755038
2922+a, gdbSNP:142574933
2946+a, gdbSNP:80358359
2947+c, tdbSNP:139177541
2957+a, gdbSNP:188564740
2968+a, gdbSNP:293756
2994+a, gdbSNP:150498581
3010+c, gdbSNP:201163469
3075+a, tdbSNP:147522427
3091+a, tdbSNP:80358365
3096+c, tdbSNP:140179920
3102+a, gdbSNP:149629686
3105+a, gdbSNP:200189574
3110+a, gdbSNP:144392474
3124+g, tdbSNP:192992005
3142+a, gdbSNP:200496609
3226+c, tdbSNP:148394805
3267+g, tdbSNP:200991784
3271+c, tdbSNP:188565385
3278+a, gdbSNP:142517671
3297+c, tdbSNP:139833594
3387+a, gdbSNP:200249421
3402+a, gdbSNP:180747605
3445+a, gdbSNP:200018885
3456+c, tdbSNP:146448450
3514+c, tdbSNP:1669445
3520+a, gdbSNP:143369211
3548+a, cdbSNP:146714879
3609+a, gdbSNP:113185324
3667+dbSNP:
3667+g, tdbSNP:188021705
3790..3791+, gdbSNP:34422680
3791..3792+, gdbSNP:72055323
3868+dbSNP:
3868+a, gdbSNP:140344071
3911+a, gdbSNP:113698799
3944+c, tdbSNP:80358374
3952+a, gdbSNP:150369438
3965+a, gdbSNP:201512479
4040+dbSNP:
4040+a, cdbSNP:35748854
4056+a, gdbSNP:62654862
4082+dbSNP:
4082+a, gdbSNP:149134659
4115..4117+, atadbSNP:121918266
4159+a, gdbSNP:143252734
4236+dbSNP:
4236+c, gdbSNP:121918268
4339+dbSNP:
4339+c, tdbSNP:139137985
4350+a, gdbSNP:143152112
4396+dbSNP:
4396+c, tdbSNP:80358354
4510+a, tdbSNP:111521307
4598+dbSNP:
4598+a, gdbSNP:113779525
4642+a, gdbSNP:112616049
4703+c, gdbSNP:61755039
4709+a, cdbSNP:79598279
4744+dbSNP:
4744+a, cdbSNP:138440449
4784..4793+, gaactacagtdbSNP:80358386
4851+dbSNP:
4851+c, tdbSNP:201882678
4921+dbSNP:
4921+g, tdbSNP:80358358
4935+a, tdbSNP:141956774
4992+c, tdbSNP:199570957
5010+a, tdbSNP:80358369
5105+dbSNP:
5105+c, tdbSNP:121918269
5177+dbSNP:
5177+c, tdbSNP:150683463
5211+a, cdbSNP:77632238
5230+a, gdbSNP:140021654
5242+a, tdbSNP:186417615
5305..5306+dbSNP:
5305..5306+, gadbSNP:80358372
5326+c, tdbSNP:112128017
5360+a, gdbSNP:62654861
5405+c, tdbSNP:149451089
5458+dbSNP:
5458+a, gdbSNP:145952190
5600+dbSNP:
5600+c, tdbSNP:139819353
5666+c, tdbSNP:121918267
5674+a, gdbSNP:143222832
5697+c, tdbSNP:200053064
5833+dbSNP:
5833+a, gdbSNP:144979877
5865+a, gdbSNP:80358380
5939+dbSNP:
5939+c, tdbSNP:80358362
5955+a, gdbSNP:80358366
5981+c, gdbSNP:62654864
6010+a, gdbSNP:146702130
6024+a, gdbSNP:148446678
6065+a, gdbSNP:80358373
6082+dbSNP:
6082+c, tdbSNP:112125562
6189+a, gdbSNP:190086412
6251+dbSNP:
6251+a, gdbSNP:199639172
6280+a, gdbSNP:142635202
6373+dbSNP:
6373+c, tdbSNP:61748200
6430+c, tdbSNP:200548405
6487+dbSNP:
6487+c, tdbSNP:151004350
6556+c, tdbSNP:140907869
6707..6708+dbSNP:
6707..6708+, gdbSNP:34512595
6718+a, tdbSNP:149769284
6811+dbSNP:
6811+a, gdbSNP:147865925
6889+dbSNP:
6889+c, tdbSNP:141545751
6977+g, tdbSNP:147054690
7042+dbSNP:
7042+a, gdbSNP:138404850
7130+dbSNP:
7130+g, tdbSNP:80358363
7140..7146+, atctatadbSNP:80358361
7144+a, gdbSNP:149186951
7222+a, gdbSNP:187845879
7225+a, gdbSNP:201215377
7246+a, gdbSNP:200322289
7387+dbSNP:
7387+c, tdbSNP:201968259
7391+c, gdbSNP:80358376
7393+c, tdbSNP:58424791
7610+dbSNP:
7610+a, gdbSNP:143355392
7628+c, gdbSNP:200641062
7648+a, gdbSNP:148375273
7701+a, gdbSNP:78798978
7704..7705+, cdbSNP:150935361
7771+dbSNP:
7771+c, tdbSNP:113988530
7788+a, gdbSNP:121918265
7800+a, gdbSNP:80358384
7826+c, tdbSNP:80358370
7846+a, gdbSNP:188785068
7917+dbSNP:
7917+c, tdbSNP:185745349
7921+a, c, gdbSNP:143420538
7924+c, tdbSNP:146395325
8048+a, gdbSNP:189670249
8092+c, tdbSNP:113072270
8226+dbSNP:
8226+a, gdbSNP:80358351
8235+c, tdbSNP:148519494
8237+a, gdbSNP:191164620
8288+, cdbSNP:80358368
8292+a, gdbSNP:199508078
8305..8306+, tdbSNP:80358371
8306+a, tdbSNP:138514909
8329+c, gdbSNP:115668015
8371+dbSNP:
8371+c, tdbSNP:146209296
8498+a, gdbSNP:201996196
8584+dbSNP:
8584+a, gdbSNP:201036501
8622+g, tdbSNP:147110911
8670+, tdbSNP:56110022
8756+c, tdbSNP:186140730
8828+g, tdbSNP:200872976
8836+a, gdbSNP:139108785
8910+c, gdbSNP:199865449
8958+a, gdbSNP:202141454
8990..8991+, aaadbSNP:71759480
9034..9035+, gdbSNP:34031034
9109+c, tdbSNP:3207732
9129+a, cdbSNP:1065156
9178+c, tdbSNP:189382158
9248+a, gdbSNP:181989563
9265+a, gdbSNP:185780527
9335..9336+, tdbSNP:33999028
9362+a, gdbSNP:74640019
9363+a, gdbSNP:78168072
9557..9558+, adbSNP:35132212
9803+c, tdbSNP:190661162
Gene SymbolNIPBL
Gene SynonymCDLS; CDLS1; IDN3; IDN3-B; Scc2
Chromosome5
Locus Map5p13.2
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_015384 Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant B, mRNA. Full Length Quote
ORF Sequence Quote
NM_133433 Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. Full Length Quote
ORF Sequence Quote
Title Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis .
Author Chatfield,K.C., Schrier,S.A., Li,J., Clark,D., Kaur,M., Kline,A.D., Deardorff,M.A., Jackson,L.S., Goldmuntz,E. and Krantz,I.D.
Journal Am. J. Med. Genet. A 158A (10), 2499-2505 (2012)
Title Mutation analysis in Chinese patients with Cornelia de Lange syndrome .
Author Zhong,Q., Liang,D., Liu,J., Xue,J. and Wu,L.
Journal Genet Test Mol Biomarkers 16 (9), 1130-1134 (2012)
Title Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients .
Author Russo,S., Masciadri,M., Gervasini,C., Azzollini,J., Cereda,A., Zampino,G., Haas,O., Scarano,G., Di Rocco,M., Finelli,P., Tenconi,R., Selicorni,A. and Larizza,L.
Journal Eur. J. Hum. Genet. 20 (7), 734-741 (2012)
Title NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation .
Author Pehlivan,D., Hullings,M., Carvalho,C.M., Gonzaga-Jauregui,C.G., Loy,E., Jackson,L.G., Krantz,I.D., Deardorff,M.A. and Lupski,J.R.
Journal Genet. Med. 14 (3), 313-322 (2012)
Title Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction .
Author Braunholz,D., Hullings,M., Gil-Rodriguez,M.C., Fincher,C.T., Mallozzi,M.B., Loy,E., Albrecht,M., Kaur,M., Limon,J., Rampuria,A., Clark,D., Kline,A., Dalski,A., Eckhold,J., Tzschach,A., Hennekam,R., Gillessen-Kaesbach,G., Wierzba,J., Krantz,I.D., Deardorff,M.A. and Kaiser,F.J.
Journal Eur. J. Hum. Genet. 20 (3), 271-276 (2012)
Title NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome .
Author Borck,G., Redon,R., Sanlaville,D., Rio,M., Prieur,M., Lyonnet,S., Vekemans,M., Carter,N.P., Munnich,A., Colleaux,L. and Cormier-Daire,V.
Journal J. Med. Genet. 41 (12), E128 (2004)
Title NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations .
Author Gillis,L.A., McCallum,J., Kaur,M., DeScipio,C., Yaeger,D., Mariani,A., Kline,A.D., Li,H.H., Devoto,M., Jackson,L.G. and Krantz,I.D.
Journal Am. J. Hum. Genet. 75 (4), 610-623 (2004)
Title Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B .
Author Krantz,I.D., McCallum,J., DeScipio,C., Kaur,M., Gillis,L.A., Yaeger,D., Jukofsky,L., Wasserman,N., Bottani,A., Morris,C.A., Nowaczyk,M.J., Toriello,H., Bamshad,M.J., Carey,J.C., Rappaport,E., Kawauchi,S., Lander,A.D., Calof,A.L., Li,H.H., Devoto,M. and Jackson,L.G.
Journal Nat. Genet. 36 (6), 631-635 (2004)
Title NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome .
Author Tonkin,E.T., Wang,T.J., Lisgo,S., Bamshad,M.J. and Strachan,T.
Journal Nat. Genet. 36 (6), 636-641 (2004)
Title de Lange syndrome: a clinical review of 310 individuals .
Author Jackson,L., Kline,A.D., Barr,M.A. and Koch,S.
Journal Am. J. Med. Genet. 47 (7), 940-946 (1993)

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