Special

HsaEX0043743 @ hg19

Exon Skipping

Gene
Description
nebulin-related anchoring protein [Source:HGNC Symbol;Acc:7988]
Coordinates
chr10:115381628-115384689:-
Coord C1 exon
chr10:115384585-115384689
Coord A exon
chr10:115383288-115383395
Coord C2 exon
chr10:115381628-115381939
Length
108 bp
Sequences
Splice sites
3' ss Seq
TCTCTCCTAAATCCCCTTAGAAA
3' ss Score
7.67
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GTGGCCTACAAGGCAGGAAATGAGCAGTCTGTCCATCAGTATACCATCAGCAAAGACGAGCCTCTCTTCCTGCAGGCCCGAGCCAATGCTGCAAATCTCAGCGAG
Seq A exon
AAACTGTATAAGAGCAGCTGGGAAAACCAGAAAGCAAAAGGGTTTGAGCTGCGTCTTGATTCCTTGACCTTCCTGGCAGCCAAAGCCAAGAGGGACCTGGCTAGCGAG
Seq C2 exon
GTGAAGTACAAGGAGGATTATGAGAGATCCAGAGGGAAGCTCATTGGGGCAAAAGATGTACAGGGAGATTCGCAAATGAGCCACTCACTGCAAATGTCCAAGCTGCAGAGTGAGCTGGAGTACAAGAAGGGATTCGAGGACACCAAATCCCAATGCCACGTCTCCCTGGACATGGTCCACCTCGTGCATGCCCGCAAAGCTCAGCATTTAGCCACAGACGTAGGCTACAAGACAGCGGAACATCACTTTACGGCTTTGCCCACAGACATGAAGGTGGAATGGGCCAAGAAGGCTTATGGCTTACAGAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893_MULTIEX2-1/13=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.067 A=0.000 C2=0.067
Domain overlap (PFAM):

C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
C2:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=26.9),PF0088013=Nebulin=PU(53.6=14.4)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
(neb)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCAATGCTGCAAATCTCAGC
R:
TTGTAGCCTACGTCTGTGGCT
Band lengths:
254-362
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development