LOCUS       NM_133433              10425 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens NIPBL cohesin loading factor (NIPBL), transcript
            variant A, mRNA.
ACCESSION   NM_133433
VERSION     NM_133433.4
KEYWORDS    RefSeq; MANE Select.
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 10425)
  AUTHORS   Xu,X., Wang,D., Xu,W., Li,H., Chen,N., Li,N., Yao,Q., Chen,W.,
            Zhong,J. and Mao,W.
  TITLE     NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway
            in non-small-cell lung cancer
  JOURNAL   Commun Biol 7 (1), 206 (2024)
   PUBMED   38378967
  REMARK    GeneRIF: NIPBL-mediated RAD21 facilitates tumorigenicity by the
            PI3K pathway in non-small-cell lung cancer.
            Erratum:[Commun Biol. 2024 Apr 1;7(1):397. doi:
            10.1038/s42003-024-06085-w.. PMID: 38561443]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 10425)
  AUTHORS   Alonso-Gil,D., Cuadrado,A., Gimenez-Llorente,D.,
            Rodriguez-Corsino,M. and Losada,A.
  TITLE     Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2
  JOURNAL   Nat Commun 14 (1), 1326 (2023)
   PUBMED   36898992
  REMARK    GeneRIF: Different NIPBL requirements of cohesin-STAG1 and
            cohesin-STAG2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 10425)
  AUTHORS   Coursimault,J., Cassinari,K., Lecoquierre,F., Quenez,O.,
            Coutant,S., Derambure,C., Vezain,M., Drouot,N., Vera,G.,
            Schaefer,E., Philippe,A., Doray,B., Lambert,L., Ghoumid,J.,
            Smol,T., Rama,M., Legendre,M., Lacombe,D., Fergelot,P., Olaso,R.,
            Boland,A., Deleuze,J.F., Goldenberg,A., Saugier-Veber,P. and
            Nicolas,G.
  TITLE     Deep intronic NIPBL de novo mutations and differential diagnoses
            revealed by whole genome and RNA sequencing in Cornelia de Lange
            syndrome patients
  JOURNAL   Hum Mutat 43 (12), 1882-1897 (2022)
   PUBMED   35842780
  REMARK    GeneRIF: Deep intronic NIPBL de novo mutations and differential
            diagnoses revealed by whole genome and RNA sequencing in Cornelia
            de Lange syndrome patients.
REFERENCE   4  (bases 1 to 10425)
  AUTHORS   Chen,Y., Chen,Q., Yuan,K., Zhu,J., Fang,Y., Yan,Q. and Wang,C.
  TITLE     A Novel de Novo Variant in 5' UTR of the NIPBL Associated with
            Cornelia de Lange Syndrome
  JOURNAL   Genes (Basel) 13 (5), 740 (2022)
   PUBMED   35627125
  REMARK    GeneRIF: A Novel de Novo Variant in 5' UTR of the NIPBL Associated
            with Cornelia de Lange Syndrome.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 10425)
  AUTHORS   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.
  TITLE     NIPBL mutational analysis in 120 individuals with Cornelia de Lange
            syndrome and evaluation of genotype-phenotype correlations
  JOURNAL   Am J Hum Genet 75 (4), 610-623 (2004)
   PUBMED   15318302
REFERENCE   6  (bases 1 to 10425)
  AUTHORS   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.
  TITLE     Cornelia de Lange syndrome is caused by mutations in NIPBL, the
            human homolog of Drosophila melanogaster Nipped-B
  JOURNAL   Nat Genet 36 (6), 631-635 (2004)
   PUBMED   15146186
  REMARK    GeneRIF: identified mutations in one gene, NIPBL, in four sporadic
            and two familial cases of Cornelia de Lange syndrome
REFERENCE   7  (bases 1 to 10425)
  AUTHORS   Tonkin,E.T., Wang,T.J., Lisgo,S., Bamshad,M.J. and Strachan,T.
  TITLE     NIPBL, encoding a homolog of fungal Scc2-type sister chromatid
            cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange
            syndrome
  JOURNAL   Nat Genet 36 (6), 636-641 (2004)
   PUBMED   15146185
REFERENCE   8  (bases 1 to 10425)
  AUTHORS   Jackson,L., Kline,A.D., Barr,M.A. and Koch,S.
  TITLE     de Lange syndrome: a clinical review of 310 individuals
  JOURNAL   Am J Med Genet 47 (7), 940-946 (1993)
   PUBMED   8291537
REFERENCE   9  (bases 1 to 10425)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
REFERENCE   10 (bases 1 to 10425)
  AUTHORS   Deardorff,M.A., Noon,S.E. and Krantz,I.D.
  TITLE     Cornelia de Lange Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301283
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN369580.1, AJ627032.1 and
            AC008902.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_133433.3.
            
            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 cognitive disability. 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).
            
            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 :: AJ627032.1, BK005151.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282516.13/ ENSP00000282516.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                CN369580.1         11-31
            22-9831             AJ627032.1         1-9810
            9832-10425          AC008902.5         97936-98529
FEATURES             Location/Qualifiers
     source          1..10425
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.2"
     gene            1..10425
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /note="NIPBL cohesin loading factor"
                     /db_xref="GeneID:25836"
                     /db_xref="HGNC:HGNC:28862"
                     /db_xref="MIM:608667"
     exon            1..410
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            411..553
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     CDS             490..8904
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /note="isoform A is encoded by transcript variant A;
                     sister chromatid cohesion 2 homolog; nipped-B-like
                     protein; SCC2 homolog; delangin; Nipped-B homolog"
                     /codon_start=1
                     /product="nipped-B-like protein isoform A"
                     /protein_id="NP_597677.2"
                     /db_xref="CCDS:CCDS3920.1"
                     /db_xref="GeneID:25836"
                     /db_xref="HGNC:HGNC:28862"
                     /db_xref="MIM:608667"
                     /translation="MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNA
                     RIAEEVNCLLACRDDNLVSQLVHSLNQVSTDHIELKDNLGSDDPEGDIPVLLQAVLAR
                     SPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASSNYQQTTISHSPSSRFVPPQT
                     SSGNRFMPQQNSPVPSPYAPQSPAGYMPYSHPSSYTTHPQMQQASVSSPIVAGGLRNI
                     HDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASFPLRSPQ
                     PVCSPAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKD
                     EKEQSEKAAMYDIISSPSKDSTKLTLRLSRVRSSDMDQQEDMISGVENSNVSENDIPF
                     NVQYPGQTSKTPITPQDINRPLNAAQCLSQQEQTAFLPANQVPVLQQNTSVAAKQPQT
                     SVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERERFSKEVQDKDKPLKKRKQD
                     SYPQEAGGATGGNRPASQETGSTGNGSRPALMVSIDLHQAGRVDSQASITQDSDSIKK
                     PEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETPKKKSDPELSKSEMKQSESRLAESK
                     PNENRLVETKSSENKLETKVETQTEELKQNESRTTECKQNESTIVEPKQNENRLSDTK
                     PNDNKQNNGRSETTKSRPETPKQKGESRPETPKQKSDGHPETPKQKGDGRPETPKQKG
                     ESRPETPKQKNEGRPETPKHRHDNRRDSGKPSTEKKPEVSKHKQDTKSDSPRLKSERA
                     EALKQRPDGRSVSESLRRDHDNKQKSDDRGESERHRGDQSRVRRPETLRSSSRNEHGI
                     KSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDSNKSRSDKLGFKSPT
                     SKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRSGALKNFVIPKIKRDKDGNVTQE
                     TKKMEMKGEPKDKVEKIGLVEDLNKGAKPVVVLQKLSLDDVQKLIKDREDKSRSSLKP
                     IKNKPSKSNKGSIDQSVLKELPPELLAEIESTMPLCERVKMNKRKRSTVNEKPKYAEI
                     SSDEDNDSDEAFESSRKRHKKDDDKAWEYEERDRRSSGDHRRSGHSHEGRRSSGGGRY
                     RNRSPSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTPEEMMDSSTFKRFTA
                     SIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKAMGIMDKLSTDKT
                     VKVLNILEKNIQDGSKLSTLLNHNNDTEEEERLWRDLIMERVTKSADACLTTINIMTS
                     PNMPKAVYIEDVIERVIQYTKFHLQNTLYPQYDPVYRLDPHGGGLLSSKAKRAKCSTH
                     KQRVIVMLYNKVCDIVSSLSELLEIQLLTDTTILQVSSMGITPFFVENVSELQLCAIK
                     LVTAVFSRYEKHRQLILEEIFTSLARLPTSKRSLRNFRLNSSDMDGEPMYIQMVTALV
                     LQLIQCVVHLPSSEKDSNAEEDSNKKIDQDVVITNSYETAMRTAQNFLSIFLKKCGSK
                     QGEEDYRPLFENFVQDLLSTVNKPEWPAAELLLSLLGRLLVHQFSNKSTEMALRVASL
                     DYLGTVAARLRKDAVTSKMDQGSIERILKQVSGGEDEIQQLQKALLDYLDENTETDPS
                     LVFSRKFYIAQWFRDTTLETEKAMKSQKDEESSEGTHHAKEIETTGQIMHRAENRKKF
                     LRSIIKTTPSQFSTLKMNSDTVDYDDACLIVRYLASMRPFAQSFDIYLTQILRVLGEN
                     AIAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDNSTSVREAAVELLGRFVLCR
                     PQLAEQYYDMLIERILDTGISVRKRVIKILRDICIEQPTFPKITEMCVKMIRRVNDEE
                     GIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKS
                     EEDSSYKPVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIR
                     PQLMVKHAMTMQPYLTTKCSTQNDFMVICNVAKILELVVPLMEHPSETFLATIEEDLM
                     KLIIKYGMTVVQHCVSCLGAVVNKVTQNFKFVWACFNRYYGAISKLKSQHQEDPNNTS
                     LLTNKPALLRSLFTVGALCRHFDFDLEDFKGNSKVNIKDKVLELLMYFTKHSDEEVQT
                     KAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLKNLQTYLQEEDTRM
                     QQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIA
                     LTLNQGLIHPVQCVPYLIAMGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMS
                     YQVQQAINTCLKDPVRGFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLNLFDDTAK
                     TDVTMLLYIADNLACFPYQTQEEPLFIMHHIDITLSVSGSNLLQSFKESMVKDKRKER
                     KSSPSKENESSDSEEEVSRPRKSRKRVDSDSDSDSEDDINSVMKCLPENSAPLIEFAN
                     VSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHPKQTLDF
                     LRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLL
                     GGGSPKNNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAAQMNESVDVMDVIA
                     ICCPKYKDRPQIARVVQKTSSGFSVQWMAGSYSGSWTEAKRRDGRKLVPWVDTIKESD
                     IIYKKIALTSANKLTNKVVQTLRSLYAAKDGTSS"
     exon            554..719
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            720..847
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            848..947
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1099
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1260
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1357
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1984
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            1985..3610
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            3611..3793
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            3794..3991
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            3992..4063
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            4064..4153
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            4154..4257
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            4258..4344
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            4345..4576
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            4577..4728
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            4729..4809
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            4810..4910
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            4911..5049
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            5050..5132
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            5133..5265
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            5266..5409
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            5410..5499
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            5500..5714
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            5715..5817
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            5818..5916
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            5917..6063
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            6064..6198
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            6199..6297
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            6298..6351
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            6352..6460
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            6461..6597
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            6598..6738
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            6739..6832
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            6833..6987
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            6988..7078
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            7079..7252
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            7253..7443
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            7444..7551
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            7552..7752
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            7753..7899
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            7900..8174
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            8175..8349
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            8350..8538
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     exon            8539..10425
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      9223..9228
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /note="hexamer: AATAAA"
     polyA_site      9245
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /note="major polyA site"
     regulatory      9490..9495
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /note="hexamer: AATAAA"
     polyA_site      9516
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
     regulatory      9810..9815
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /note="hexamer: TATAAA"
     polyA_site      9831
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
     regulatory      10405..10410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
                     /note="hexamer: ATTAAA"
     polyA_site      10425
                     /gene="NIPBL"
                     /gene_synonym="CDLS; CDLS1; IDN3; IDN3-B; Scc2"
ORIGIN      
        1 attttgttct gagagggaga gacggaacga gagagagaca cacacagggc tccttccccc
       61 cgccctcccc cccctccctc cgtcggtacc gactcacccg acaccaccaa gccgcaggga
      121 gggacgcccc cgccgacagg agaattggtt cccgggcccg cggcgatgcc cccccggtag
      181 ctcgggcccg tggtcgggtg tttgtgagtg tttctatgtg ggagaaggag gaggaggagg
      241 aagaagaagc aacgatttgt cttctcggct ggtctccccc cggctctaca tgttccccgc
      301 actgaggaga cggaagagga gccgtagcca ccccccctcc cggcccggat tatagtctct
      361 cgccacagcg gcctcggcct ccccttggat tcagacgccg attcgcccag tgtttgggaa
      421 atgggaagta atgacagctg gcacctgaac taagtacttt tataggcaac accattccag
      481 aaattcagga tgaatgggga tatgccccat gtccccatta ctactcttgc ggggattgct
      541 agtctcacag acctcctgaa ccagctgcct cttccatctc ctttacctgc tacaactaca
      601 aagagccttc tctttaatgc acgaatagca gaagaggtga actgcctttt ggcttgtagg
      661 gatgacaatt tggtttcaca gcttgtccat agcctcaacc aggtatcaac agatcacata
      721 gagttgaaag ataaccttgg cagtgatgac ccagaaggtg acataccagt cttgttgcag
      781 gccgtcctgg caaggagtcc taatgttttc agggagaaaa gcatgcagaa cagatatgta
      841 caaagtggaa tgatgatgtc tcagtataaa ctttctcaga attccatgca cagtagtcct
      901 gcatcttcca attatcaaca aaccactatc tcacatagcc cctccagccg gtttgtgcca
      961 ccacagacaa gctctgggaa cagatttatg ccacagcaaa atagcccagt gcctagtcca
     1021 tacgccccac aaagccctgc aggatacatg ccatattccc atccttcaag ttacacaaca
     1081 catccacaga tgcaacaagc atcggtatca agtcccattg ttgcaggtgg tttgagaaac
     1141 atacatgata ataaagtttc tggtccgttg tctggcaatt cagctaatca tcatgctgat
     1201 aatcctagac atggttcaag tgaggactac ctacacatgg tgcacaggct aagtagtgac
     1261 gatggagatt cttcaacaat gaggaatgct gcatcttttc ccttgagatc tccacagcca
     1321 gtatgctccc ctgctggaag tgaaggaact cctaaaggct caagaccacc tttaatccta
     1381 caatctcagt ctctaccttg ttcatcacct cgagatgttc caccagatat cttgctagat
     1441 tctccagaaa gaaaacaaaa gaagcagaag aaaatgaaat taggcaagga tgaaaaagag
     1501 cagagtgaga aagcggcaat gtatgatata attagttctc catccaagga ctctactaaa
     1561 cttacattaa gactttctcg tgtaaggtct tcagacatgg accagcaaga ggatatgatt
     1621 tctggtgtgg aaaatagcaa tgtttcagaa aatgatattc cttttaatgt gcagtaccca
     1681 ggacagactt caaaaacacc cattactcca caagatataa accgcccact aaatgctgct
     1741 caatgtttgt cgcagcaaga acaaacagca ttccttccag caaatcaagt gcctgtttta
     1801 caacagaaca cttcagttgc tgcaaaacaa ccccagactt ctgtggtaca gaatcaacaa
     1861 cagatatcac aacagggacc tatatatgat gaagtggaat tggatgcatt ggctgaaatt
     1921 gagcgaatag agagagaatc agctattgaa agggagcgct tctcaaaaga agttcaagat
     1981 aaagataagc ctttgaaaaa aagaaaacaa gattcttacc cacaggaggc tgggggtgct
     2041 acaggaggta atagaccagc ttctcaggag acgggttcta cgggaaatgg gtcaaggcca
     2101 gcattaatgg ttagcattga tcttcatcag gcaggaagag tggactctca ggcttctata
     2161 actcaggatt cagactccat aaaaaagcct gaagaaatca aacaatgtaa tgatgcacct
     2221 gtttctgttc ttcaggaaga tattgttgga agtcttaaat ctacaccaga aaaccatcct
     2281 gagacaccta aaaaaaagtc tgatcctgag ctttcaaaga gtgaaatgaa acaaagtgaa
     2341 agtagattag cagaatctaa accaaatgaa aaccgattgg tggagacaaa atcaagtgaa
     2401 aataagttag aaactaaagt tgagacccaa acagaagaac ttaaacagaa tgagagcaga
     2461 acaactgaat gcaaacaaaa cgagagcacc atagttgagc ctaaacaaaa tgaaaataga
     2521 ctgtctgaca caaaaccaaa tgacaacaaa caaaataatg gcagatcaga aacaacaaaa
     2581 tcaaggcctg aaaccccaaa gcaaaagggt gaaagccggc ctgagactcc aaaacaaaag
     2641 agtgatgggc atcctgaaac cccaaaacag aagggtgatg gaaggcctga aactccaaag
     2701 caaaaaggtg agagccgccc tgaaactcca aagcaaaaaa atgaagggcg acctgaaaca
     2761 ccaaaacaca ggcatgacaa taggagggat tctggaaagc catctacaga gaaaaaacct
     2821 gaagtgtcta aacataaaca agatactaaa tctgactcac ctcggttaaa atcagaacga
     2881 gctgaagcct taaagcagag acctgatggg cgatctgttt ctgagtcact aagacgtgac
     2941 catgataata aacaaaaatc agatgacagg ggtgaatcag agcgacatcg aggggatcag
     3001 tctagggttc gaagaccaga aacattgaga tcctctagta gaaatgaaca tggcattaaa
     3061 tctgatagtt caaaaactga taaactagaa cgaaaacaca ggcatgaatc aggggactca
     3121 agggaaagac catcttctgg ggaacaaaaa tcaagacctg acagtcctcg tgttaaacaa
     3181 ggagattcta ataaatcaag atctgataaa cttggtttta aatcaccaac tagtaaagat
     3241 gacaaaagga cagagggtaa caagagtaaa gtagacacta ataaagcaca ccctgacaat
     3301 aaggcagaat ttccaagtta tttgttgggg ggcaggtctg gtgcgttgaa aaattttgtc
     3361 attccgaaaa tcaagaggga taaagatggc aatgttactc aggagacaaa gaaaatggaa
     3421 atgaaaggag agccgaaaga caaagtagaa aaaataggat tagttgaaga tctaaataaa
     3481 ggagctaagc ctgtagttgt gctacaaaaa ctgtctttgg atgatgttca gaaacttatt
     3541 aaagatagag aggacaaatc aagaagttcc cttaaaccta tcaagaataa accatcaaag
     3601 tcaaataaag gtagtataga tcaatcagtg ttaaaagaat taccccctga actcctggca
     3661 gaaattgagt ccaccatgcc actttgtgaa cgtgtgaaaa tgaacaaacg caagcgtagc
     3721 acagttaatg aaaagccaaa atatgctgaa atcagttcag atgaagataa tgatagtgat
     3781 gaagcttttg aatcctctag gaaacgacat aaaaaagatg atgataaagc ttgggaatat
     3841 gaagagcgtg acagaagaag ctctggggat cataggagaa gtggccactc tcatgaagga
     3901 agaaggagtt caggtggtgg tcgttatcga aaccgaagtc cgtcagattc tgacatggaa
     3961 gattattctc ctcctcccag ccttagtgag gttgctagga aaatgaagaa aaaagaaaaa
     4021 cagaagaaaa ggaaagcata tgaaccaaaa ctaacacctg aagaaatgat ggactcttca
     4081 acttttaaga gattcacagc ctcaatagag aatattttgg ataatttgga agatatggat
     4141 tttactgcgt ttggtgatga tgatgaaatt cctcaggaac tgctcttagg aaaacatcag
     4201 cttaatgaac ttggcagtga atctgctaaa ataaaagcaa tgggtataat ggataagctt
     4261 tcaactgaca aaactgtgaa agtcttaaat atcttggaga agaatattca ggatgggtca
     4321 aagctttcca ctttgttaaa tcataataac gatactgaag aagaagaaag gttatggaga
     4381 gaccttatta tggagagagt tacaaaatca gcggatgctt gtcttacaac tatcaacatt
     4441 atgacatccc ctaacatgcc aaaagctgtg tacattgagg atgtaattga aagagttata
     4501 cagtacacta aatttcattt gcagaataca ctttatcctc agtatgatcc tgtttacaga
     4561 ttagatcctc atggaggagg cttattaagt tcaaaagcaa aacgggctaa atgttctacc
     4621 cataagcaga gagtaatagt aatgctttat aacaaagttt gtgacattgt tagcagctta
     4681 tcagaattgc tagagataca acttcttaca gacacaacaa ttcttcaggt ttcatctatg
     4741 ggaataacac cattttttgt ggaaaatgtc agtgaactac agttgtgtgc cattaagtta
     4801 gtcactgcag tattctcaag atatgaaaaa cataggcagt taattttgga agaaattttt
     4861 acttcacttg caagattacc aaccagcaag aggagtttaa ggaacttcag gttaaacagt
     4921 agtgatatgg atggagaacc tatgtatatt cagatggtta cagcactggt tttacaactt
     4981 attcagtgtg tggtacactt accatcatca gagaaggact ctaatgcaga agaagattca
     5041 aataaaaaaa ttgaccagga tgttgtcatt actaactctt atgaaacagc tatgcgaaca
     5101 gcccaaaact tcctctccat cttccttaaa aaatgtggta gtaagcaagg tgaagaagat
     5161 tacagaccac tgtttgaaaa ttttgttcaa gaccttcttt caacagtcaa taagcctgaa
     5221 tggccagctg ctgaactact ccttagtttg ttagggagac tgttggttca tcagttcagt
     5281 aacaagtcaa cagagatggc tttaagagtg gcatctcttg attaccttgg aactgttgct
     5341 gcacggctaa gaaaagatgc tgttacaagc aaaatggatc aaggatctat agaacgcatt
     5401 ttaaaacagg tttcaggagg ggaagatgaa atccaacaat tacaaaaagc attgcttgat
     5461 tacttggatg aaaacactga gactgatcct tcactagtgt tttctcgtaa attctatata
     5521 gcccagtggt ttcgagacac aactctggaa acagaaaaag caatgaaatc acaaaaagat
     5581 gaagaatcat ctgaaggaac acatcatgca aaggaaattg agacaactgg ccaaattatg
     5641 catcgagctg aaaaccgaaa aaagtttctt agaagcatta tcaaaaccac accttctcag
     5701 tttagcacat taaagatgaa ctctgatact gtggactatg atgatgcttg cttgattgtt
     5761 cgatacttgg cctccatgag gccgtttgcc cagagctttg atatttattt gacacagatc
     5821 ctacgagttc ttggtgaaaa tgcaattgct gttcgaacaa aagccatgaa gtgtttgtct
     5881 gaggttgttg ctgtagaccc cagtattcta gcaaggcttg atatgcaacg aggtgttcat
     5941 ggacgattga tggataattc gactagtgtc cgagaagcag cagtagaatt actaggtcga
     6001 tttgtccttt gtcgacctca gcttgctgaa cagtattatg atatgctgat tgaaagaata
     6061 ttggatactg gtatcagtgt caggaaaaga gtaataaaga ttctcagaga catttgtatt
     6121 gaacaaccaa catttccaaa aatcacagaa atgtgtgtaa aaatgattcg cagagtcaat
     6181 gatgaagagg gcattaagaa attagtaaat gaaacattcc agaaactctg gtttactcca
     6241 actccacaca atgacaaaga agcaatgaca aggaaaattt taaacattac cgatgtggtt
     6301 gcagcatgca gagatactgg atatgactgg tttgagcaac tgcttcaaaa cttgttgaag
     6361 tccgaagagg attcctcata taaacctgtg aagaaagctt gtactcaact tgttgataac
     6421 ctagttgagc acattcttaa atatgaggaa tctctagctg actctgacaa taaaggtgtg
     6481 aattctggaa gattggtagc ttgcataacc actttgttct tattcagcaa aataagaccc
     6541 cagctcatgg ttaaacatgc aatgactatg caaccatacc ttaccactaa atgtagtacg
     6601 caaaatgatt tcatggttat ctgcaatgtt gcaaaaatcc tagagctagt tgtaccactg
     6661 atggagcatc caagtgaaac ttttcttgcc actattgagg aagatctaat gaagctcatc
     6721 atcaaatatg gcatgactgt agtgcaacat tgtgtgagct gtcttggagc tgttgtaaat
     6781 aaagtgacac aaaattttaa atttgtgtgg gcttgtttca atagatacta tggtgccatt
     6841 tcaaaattaa aaagtcaaca ccaagaggac ccaaataaca cttcacttct aacaaacaaa
     6901 ccagcacttc ttagatccct tttcaccgtt ggagcactat gtcggcattt tgattttgat
     6961 ctggaagatt ttaaaggcaa cagcaaggtt aacataaaag ataaagtact tgaactattg
     7021 atgtatttta caaaacactc agatgaagaa gtacaaacaa aagctatcat tggtctagga
     7081 tttgccttta ttcagcatcc aagtctaatg ttcgagcaag aagtgaagaa tctatataat
     7141 aatattttat ctgataagaa ctcctcagtc aatttaaaaa tacaagtgtt aaaaaacctc
     7201 cagacctacc tacaagaaga agatacacgt atgcagcagg cagatagaga ctggaagaaa
     7261 gttgcaaaac aggaagactt aaaagaaatg ggtgatgttt cctcagggat gagtagttcc
     7321 atcatgcagc tttatctcaa acaggtgctt gaggcatttt ttcacaccca gtcaagtgta
     7381 cgccactttg ccctaaatgt cattgcattg actctaaatc aaggtcttat tcatccagtt
     7441 cagtgtgtgc catatttaat tgctatgggc acagacccag aacctgctat gcggaacaag
     7501 gctgatcagc aacttgtgga aatagacaaa aaatatgctg gattcattca tatgaaagca
     7561 gtggctggta tgaagatgtc ttaccaggta caacaggcaa tcaacacatg cctaaaagat
     7621 cctgtaaggg gtttcagaca agacgagtcc tctagcgctt tgtgttcaca cctttactcc
     7681 atgatccgtg gaaaccgcca acacagacga gcctttctta tttctttact caacctcttt
     7741 gatgacacag caaaaacaga cgtgactatg ctcttgtata tagcagacaa tctagcctgt
     7801 tttccatacc agacacagga agagccgttg tttataatgc atcatataga cattacactc
     7861 tcagtttctg gtagtaacct actgcagtca ttcaaggagt ctatggtaaa ggacaaaagg
     7921 aaagagagaa aatcatcacc tagtaaggaa aatgagtcaa gcgacagtga agaagaagtt
     7981 tccaggcctc ggaagtcacg gaaacgtgta gattcagatt cagattcaga ttcagaagac
     8041 gatataaatt cagtgatgaa atgtttgcca gaaaattcag ctcctttaat cgaatttgca
     8101 aatgtgtccc agggtatttt attacttctc atgttaaaac aacatttgaa gaatctttgt
     8161 ggattttctg atagtaaaat tcagaagtac tctccatctg aatctgcaaa agtatatgat
     8221 aaagcgataa accgaaaaac aggagttcat tttcatccaa aacaaacact ggacttcctg
     8281 cggagtgaca tggctaattc caaaatcaca gaagaggtga aaaggagtat agtaaaacag
     8341 tatctagatt tcaaacttct catggaacat ctggaccctg atgaagaaga agaagaaggg
     8401 gaggtttcag ctagcacaaa tgctcggaac aaagcaatta cctcactgct tggaggaggc
     8461 agccctaaaa ataatacagc agcagagaca gaagatgatg aaagtgatgg ggaggataga
     8521 ggaggaggca cttcagggtc attgagaagg tcaaaacgaa attcagactc tacggagttg
     8581 gcagcacaga tgaatgaaag tgttgacgtc atggatgtca tcgctatttg ctgtccaaag
     8641 tacaaagatc gaccacaaat tgcaagagta gtgcagaaaa ccagcagtgg cttcagtgtt
     8701 cagtggatgg caggctccta cagtggctcc tggactgagg ctaagcgccg tgatggccgc
     8761 aaactggtgc cttgggtaga cactattaaa gagtcagaca ttatttacaa aaaaattgct
     8821 ctaacgagtg ctaataagct gactaataaa gttgttcaga ctttacgatc cctgtatgcc
     8881 gccaaggatg ggacttccag ctaatgaatt tgtacatgca gccaaattta caggaatttt
     8941 tttaaaaggc agaaaaactt gaaataccaa cattctggca aaaaaaaatc agttttatga
     9001 agagtaagtg gaacctggga tgcaggaaca aaagaaggaa atgttgggca aacatttttg
     9061 tgggagctcc cttcgctgtt gtgcagcaga aacagattct cagttcattt ttactcccac
     9121 tgtattatag tttaacaaaa attgtttata tcttggaaaa aaaactttct gtttaaaaaa
     9181 aataaacaag tgaatgttgg aaattagtct gttaatgttc ttaataaagt gttcttggag
     9241 tttaacctag cagcggatgg ctttctttag cttagcccag tttccaggga agcattgttt
     9301 tttccaggct gtaaaatggc agaatctcct ggatatataa tttattctgt tgaaaaaaaa
     9361 aaaagcatgc agtatctatg acctatctgc agaaggagtt tttgtaaatg tagattttga
     9421 tgtattaggt caccctgaaa acaatacaag aaaagggatc cccaggtaat ctggtggagc
     9481 gaatactgca ataaattttt ttacttctct ttgttacttg tctgtttcca tttgaatttc
     9541 ttattgtaaa aatctgttta aatccattta tattatttta cagtctttta tgtaaaattt
     9601 attatatcac tggttttcaa agcaaaacat aaaatattgt ttatacagtt tgtataggct
     9661 gacttctgaa taattggtat ctattatttt cattcccata agagggtgta aacaattaac
     9721 tccagggttt tattgtatcc tgcaatattt agtattaact atatatgatt tagcactgtg
     9781 ccaaacacat tttcaagagt acattttgat ataaaaagaa actatagttt attccttgta
     9841 tgcttcaatt tctttctagt gatgtcatga tgctgatatt tattctttaa acctcgggta
     9901 aaggtaacct gttatttgga aaaccagcat ttctcttggt taaaatgatg tccggttatt
     9961 ttagaactag agttgagatg aatatgacac ttcataatta cactcactac atttttcaca
    10021 aattattttt taatgctgaa aagagtaatt ttacttgttg agatgtttat tcattttcta
    10081 atctatgcta aaagctttta tcataagtct tgggaacagt tgtcatttac acattactta
    10141 ctgcagatat cttgactaaa tcaggaggga ggtgtttaat catttgatat gtatagttga
    10201 cactcaggaa tagtaatgcc taaaatttac agtggatgag gtctgtttca agtttaattc
    10261 tttttaaaaa tgttttactt atttttaaat cactttgaaa aaattgacct ccagaatgct
    10321 gttttatgaa attggcaaat aaatgaaggt attcaatttt tgaggaagaa tgacattgcc
    10381 acaaaatacc tttttgtgac acctattaaa ccactatgaa aataa
//
