| Type | Description |
|---|---|
| Definition | nebulin |
| Date | Results | Publications |
|---|---|---|
| 2021-01-23 13:01:00 | An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene. | 32062132 |
| 2021-01-23 12:58:00 | Bioinformatics Analysis and High-Throughput Sequencing to Identify Differentially Expressed Genes in Nebulin Gene (NEB) Mutations Mice. | 32390000 |
| 2019-11-23 12:49:00 | nebulin containing exon 144 is the default isoform early in myogenesis, while regulated expression of nebulin containing exon 143 occurs at later stages of muscle development | 30356055 |
| 2019-05-11 12:40:00 | Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process. | 30517146 |
| 2017-09-30 13:57:00 | NEB gene should be included in genetic panels for fetal akinesia/arthrogryposis multiplex congenital cases. | 27933661 |
| Type | IDs |
|---|---|
| Synonymous | NEB177D, NEM2 |
| Gene |
UniProtKB-ID:
NEBU_HUMAN,
Q96MF8_HUMAN,
Q05C45_HUMAN
UniprotKB:
P20929,
Q96MF8,
Q05C45
UniParc:
UPI0000073322,
UPI0000D49BD8,
UPI0002065BA0,
UPI0002065BA1,
UPI0000212787,
UPI0001881B48
EMBL:
AC009497,
AK056994,
AC116650,
X83957,
BC029384,
AC107052,
M19669
Ensembl:
ENSG00000183091
KO:
hsa:4703
|
| Nucleutide sequences |
EMBL-CDS:
AAY14977.1,
CAA58788.1,
AAA59917.1,
AAY14651.1,
BAB71337.1,
AAH29384.1
Ensembl_TRS:
ENST00000409198,
ENST00000172853,
ENST00000604864,
ENST00000397345,
ENST00000427231,
ENST00000603639
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000172853,
ENSP00000380505,
ENSP00000473894,
ENSP00000474498,
ENSP00000416578,
ENSP00000386259
RefSeq:
XP_005246659.1,
XP_005246669.1,
XP_006712605.1,
XP_011509529.1,
XP_016859669.1,
XP_005246656.1,
XP_005246667.1,
XP_016859670.1,
XP_005246673.1,
XP_005246655.1,
XP_005246661.1,
XP_005246648.1,
XP_005246658.1,
XP_005246663.1,
XP_016859668.1,
NP_001157979.2,
XP_011509528.1,
XP_016859666.1,
XP_005246670.1,
XP_005246647.1,
NP_001157980.2,
XP_005246654.1,
XP_005246653.1,
XP_005246651.1,
NP_004534.3,
NP_001258137.2,
XP_016859671.1,
XP_005246665.1,
XP_005246672.1,
XP_016859667.1,
XP_005246660.1,
XP_011509527.1,
XP_005246650.1,
XP_016859672.1,
XP_005246649.1,
XP_016859674.1,
XP_006712604.1,
XP_005246674.1,
XP_005246668.1,
XP_016859673.1
|
| Others |
UniRef100:
UniRef100_Q05C45,
UniRef100_Q96MF8,
UniRef100_P20929
UniRef90:
UniRef90_P20929-2,
UniRef90_Q05C45,
UniRef90_P20929
UniRef50:
UniRef50_P20929,
UniRef50_P20929-3,
UniRef50_A0A6I9XTL0
UniGene:
Hs.588655
CCDS:
CCDS54408.1,
CCDS46424.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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