| Type | Description |
|---|---|
| Definition | NIPBL cohesin loading factor |
| Date | Results | Publications |
|---|---|---|
| 2021-03-27 14:41:00 | A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort. | 31872982 |
| 2021-01-16 15:57:00 | Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. | 32125084 |
| 2020-11-21 13:28:00 | De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome. | 32074972 |
| 2020-08-12 10:57:00 | NIPBL and BRD4 cooperate in transcriptional regulation, which should contribute to explain the recently observed CdLS-like phenotype associated with BRD4 mutations. | 31320616 |
| 2020-06-27 11:53:00 | he de novo missense variant c.1507A>G (p. Lys503Glu) of the NIPBL gene probably underlies the severe type Cornelia de Lange syndrome in this patient | 32335880 |
| Type | IDs |
|---|---|
| Synonymous | CDLS, CDLS1, IDN3, IDN3-B, Scc2 |
| Gene |
UniProtKB-ID:
NIPBL_HUMAN,
A0A590UJS4_HUMAN
UniprotKB:
Q6KC79,
A0A590UJS4
UniParc:
UPI00003BF764,
UPI00003761B6,
UPI0007DC6DAB,
UPI00003761B5
EMBL:
BX538178,
BX538177,
KC876970,
KC876971,
AJ627032,
AB019602,
AB019494,
BX640644,
BC033847,
AK126804,
AC008902,
AC026741,
AJ640137
Ensembl:
ENSG00000164190
KO:
hsa:25836
|
| Nucleutide sequences |
EMBL-CDS:
CAG26691.1,
CAD98052.1,
BAA77349.1,
CAE45790.1,
CAD98051.1,
BAC86701.1,
CAF25290.1,
AAH33847.1,
BAA77335.1
Ensembl_TRS:
ENST00000448238,
ENST00000282516,
ENST00000652901
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000282516,
ENSP00000406266,
ENSP00000499536
RefSeq:
XP_016864818.1,
XP_005248339.3,
XP_006714530.1,
NP_597677.2,
XP_006714531.1,
NP_056199.2,
XP_016864820.1,
XP_005248337.1,
XP_016864819.1,
XP_011512317.1
|
| Others |
UniRef100:
UniRef100_Q6KC79,
UniRef100_A0A590UJS4
UniRef90:
UniRef90_Q6KC79
UniRef50:
UniRef50_Q6KC79
UniGene:
Hs.481927
CCDS:
CCDS47198.1,
CCDS3920.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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