Special

HsaEX0043381 @ hg38

Exon Skipping

Gene
ENSG00000163072 | NOSTRIN
Description
nitric oxide synthase trafficking [Source:HGNC Symbol;Acc:HGNC:20203]
Coordinates
chr2:168802418-168824717:+
Coord C1 exon
chr2:168802418-168802673
Coord A exon
chr2:168811567-168811652
Coord C2 exon
chr2:168824634-168824717
Length
86 bp
Sequences
Splice sites
3' ss Seq
TTATTGTTCTTGTTTTTCAGTAT
3' ss Score
9.89
5' ss Seq
AAGGTACAA
5' ss Score
6.82
Exon sequences
Seq C1 exon
ATTCTCACTATCTCACACTGGCCGTCTTGACCCAGAGCAGTTCTTTACTTTCTCGGGACACAAACGGGATGAAAGTCCAGGGCTGGGACTTCCTCCTTGGAATGTTTGACAAGGACTGACGTACTCTAGGCCCTTTGAATCCCGGAAGTCCAGGACACACCCAACCTTGATTACAGTGTCCAGAATGCTGGAGCGTAGGTGAAAGGACAAAAGCCAGACACATTTCAACATGAGGGACCCACTGACAGATTGTCCG
Seq A exon
TATAATAAAGTATACAAGAACCTAAAGGAGTTTTCTCAAAATGGAGAGAATTTCTGCAAACAGGTCACATCTGTTCTTCAGCAAAG
Seq C2 exon
GGCAAACCTGGAAATTAGCTATGCCAAAGGACTTCAGAAACTGGCAAGCAAGCTGAGCAAAGCATTACAGAACACGAGAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163072_MULTIEX2-5/8=4-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0061118=FCH=PU(2.3=22.2)
A:
PF050557=DUF677=FE(38.4=100),PF0061118=FCH=FE(32.2=100)
C2:
PF050557=DUF677=FE(38.4=100),PF0061118=FCH=FE(32.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGAATCCCGGAAGTCCAGGA
R:
AGCTTGCTTGCCAGTTTCTGA
Band lengths:
176-262
Functional annotations
There are 2 annotated functions for this event
PMID: 17570224
Exogenously expressed NOSTRINalpha is distributed over the cytosol and associated with subcellular membranes, whereas NOSTRINbeta (skipping of HsaEX0043381) is localized predominantly to the nucleus. Experiments in CHO cells.
PMID: 18980613
This study shows that nuclear import of NOSTRINbeta (skipping of CDS exon HsaEX0043381, inducing the use of a downstream ATG) depends on two nuclear localization signals (aa 32-36: KKRK and aa 57-61: KAKKK). Each of the sequences is independently functional, but both are required to sustain nuclear localization of NOSTRINbeta. Export of NOSTRINbeta from the nucleus is facilitated by a CRM1-dependent mechanism relying on the nuclear export sequence LELEKERIQL (aa 135-145). Unlike NOSTRINbeta, the full-length variant NOSTRINalpha was conspicuously absent from the nucleus. This is most likely because of the fact that its N-terminal F-BAR domain, which is truncated in NOSTRINbeta, facilitates association with cellular membranes. NOSTRINbeta directly binds to the 5'-regulatory region of the NOSTRIN gene (bp -200 to -1), and overexpression of NOSTRINbeta strongly decreases transcription of a reporter gene under control of this DNA region.


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development