Property Summary

NCBI Gene PubMed Count 60
Grant Count 94
R01 Count 32
Funding $26,182,829.25
PubMed Score 170.17
PubTator Score 118.99

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
Rheumatoid Arthritis 2.800 0.001
pancreatic cancer 1.100 0.046
Multiple myeloma 1.272 0.003
malignant mesothelioma 1.900 0.000
oligodendroglioma 1.100 0.025
psoriasis -2.200 0.000
osteosarcoma 1.311 0.001
medulloblastoma 1.500 0.000
medulloblastoma, large-cell 1.500 0.000
intraductal papillary-mucinous carcinoma... 1.300 0.005
intraductal papillary-mucinous neoplasm ... -1.300 0.017
lung cancer -1.100 0.005
adult high grade glioma -1.300 0.033
pancreatic carcinoma 1.100 0.046
ovarian cancer 2.300 0.000

Synonym

Accession Q6KC79 Q6KCD6 Q6N080 Q6ZT92 Q7Z2E6 Q8N4M5 Q9Y6Y3 Q9Y6Y4
Symbols CDLS
IDN3
Scc2
CDLS1
IDN3-B

Gene

Gene RIF (38)

PMID Text
26725122 This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 mutations and PKR activation.
26437745 NIPBL gene mutation is associated with Thrombocytopenia in Cornelia de Lange syndrome.
26176819 Scc2 normally promotes a gene expression program that supports translational fidelity. . translational dysfunction may contribute to the human disorder Cornelia de Lange syndrome, which is caused by mutations in NIPBL, the human ortholog of SCC2.
25963978 NIPBL expression conferred poor prognosis and resistance to chemotherapy in non-small cell lung cancer
25447906 analysis of the mutation spectrum of NIPBL in in Chinese patients with Cornelia de Lange syndrome
25196272 A new Sanger sequencing reveals new hidden mutations in NIPBL gene not detected with conventional approach.
24918291 Nine mutations affecting splice-sites in the NIPBL gene and four new splicing isoforms DeltaE10, DeltaE12, DeltaE33,34, and B' was identified in twelve CdLS patients.
24550742 defects of NIPBL might lead to cohesin-loading defects and thereby alter gene expression and second, NIPBL deficiency might affect genes directly via its role at the respective promoters.
24218399 There was an increased frequncy of NIPBL mutations in a cohort of prenatal ultrasound detected phenotypes of Cornelia de Lange syndrome.
24189319 Letter/Case Report: novel NIPBL mutation giving rise to Cornelia de Lange syndrome and intrauterine fetal death.
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AA Sequence

MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLN      1 - 70
QVSTDHIELKDNLGSDDPEGDIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASS     71 - 140
NYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAPQSPAGYMPYSHPSSYTTHPQMQQASVSSPI    141 - 210
VAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASFPLRSPQPVCS    211 - 280
PAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISS    281 - 350
PSKDSTKLTLRLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCL    351 - 420
SQQEQTAFLPANQVPVLQQNTSVAAKQPQTSVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERER    421 - 490
FSKEVQDKDKPLKKRKQDSYPQEAGGATGGNRPASQETGSTGNGSRPALMVSIDLHQAGRVDSQASITQD    491 - 560
SDSIKKPEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETPKKKSDPELSKSEMKQSESRLAESKPNENRL    561 - 630
VETKSSENKLETKVETQTEELKQNESRTTECKQNESTIVEPKQNENRLSDTKPNDNKQNNGRSETTKSRP    631 - 700
ETPKQKGESRPETPKQKSDGHPETPKQKGDGRPETPKQKGESRPETPKQKNEGRPETPKHRHDNRRDSGK    701 - 770
PSTEKKPEVSKHKQDTKSDSPRLKSERAEALKQRPDGRSVSESLRRDHDNKQKSDDRGESERHRGDQSRV    771 - 840
RRPETLRSSSRNEHGIKSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDSNKSRSDKLGF    841 - 910
KSPTSKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRSGALKNFVIPKIKRDKDGNVTQETKKMEMKG    911 - 980
EPKDKVEKIGLVEDLNKGAKPVVVLQKLSLDDVQKLIKDREDKSRSSLKPIKNKPSKSNKGSIDQSVLKE    981 - 1050
LPPELLAEIESTMPLCERVKMNKRKRSTVNEKPKYAEISSDEDNDSDEAFESSRKRHKKDDDKAWEYEER   1051 - 1120
DRRSSGDHRRSGHSHEGRRSSGGGRYRNRSPSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTP   1121 - 1190
EEMMDSSTFKRFTASIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKAMGIMDKLSTD   1191 - 1260
KTVKVLNILEKNIQDGSKLSTLLNHNNDTEEEERLWRDLIMERVTKSADACLTTINIMTSPNMPKAVYIE   1261 - 1330
DVIERVIQYTKFHLQNTLYPQYDPVYRLDPHGGGLLSSKAKRAKCSTHKQRVIVMLYNKVCDIVSSLSEL   1331 - 1400
LEIQLLTDTTILQVSSMGITPFFVENVSELQLCAIKLVTAVFSRYEKHRQLILEEIFTSLARLPTSKRSL   1401 - 1470
RNFRLNSSDMDGEPMYIQMVTALVLQLIQCVVHLPSSEKDSNAEEDSNKKIDQDVVITNSYETAMRTAQN   1471 - 1540
FLSIFLKKCGSKQGEEDYRPLFENFVQDLLSTVNKPEWPAAELLLSLLGRLLVHQFSNKSTEMALRVASL   1541 - 1610
DYLGTVAARLRKDAVTSKMDQGSIERILKQVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQW   1611 - 1680
FRDTTLETEKAMKSQKDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDY   1681 - 1750
DDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRL   1751 - 1820
MDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDICIEQPTFPKITEMCV   1821 - 1890
KMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEE   1891 - 1960
DSSYKPVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPY   1961 - 2030
LTTKCSTQNDFMVICNVAKILELVVPLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVT   2031 - 2100
QNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGALCRHFDFDLEDFKGNSKVNIK   2101 - 2170
DKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLKNLQTY   2171 - 2240
LQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLN   2241 - 2310
QGLIHPVQCVPYLIAMGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVR   2311 - 2380
GFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLNLFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIM   2381 - 2450
HHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRKRVDSDSDSDSEDDIN   2451 - 2520
SVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHP   2521 - 2590
KQTLDFLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPK   2591 - 2660
NNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAAQMNESVDVMDVIAICCPKYKDRPQIARVVQK   2661 - 2730
TSSGFSVQWMAGSYSGSWTEAKRRDGRKLVPWVDTIKESDIIYKKIALTSANKLTNKVVQTLRSLYAAKD   2731 - 2800
GTSS                                                                     2801 - 2804
//

Text Mined References (73)

PMID Year Title
26725122 2016 NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
26437745 2016 Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
26176819 2015 The SMC Loader Scc2 Promotes ncRNA Biogenesis and Translational Fidelity.
25963978 2015 Enhanced expression of cohesin loading factor NIPBL confers poor prognosis and chemotherapy resistance in non-small cell lung cancer.
25447906 2015 Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.
25196272 2015 Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.
24918291 2014 Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
24550742 2014 A cohesin-independent role for NIPBL at promoters provides insights in CdLS.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24218399 2014 Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.
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