Special

HsaEX0043742 @ hg19

Exon Skipping

Gene
Description
nebulin-related anchoring protein [Source:HGNC Symbol;Acc:7988]
Coordinates
chr10:115401124-115405700:-
Coord C1 exon
chr10:115405584-115405700
Coord A exon
chr10:115402693-115402797
Coord C2 exon
chr10:115401124-115401231
Length
105 bp
Sequences
Splice sites
3' ss Seq
CTGGTGTTTTGATTTCCAAGGTG
3' ss Score
7.37
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
ATAAAATACAGGCAGGACTTCAATAAGATGAAAGGCGCTGCACATTATCACTCGCTTCCAGCTCAAGACAACTTGGTTCTCAAACAGGCTCAGAGCGTAAACAAACTCGTGAGTGAG
Seq A exon
GTGGAGTATAAGAAGGATCTGGAAAGTAGTAGAGGTCACAGTATCAACTACTGTGAAACACCTCAATTCAGGAACGTGAGCAAGATCTCAAAATTTACCAGTGAT
Seq C2 exon
AATAAATATAAAGAAAACTACCAGAACCACATGAGAGGCCGCTATGAAGGAGTTGGTATGGACAGACGCACTCTGCATGCTATGAAAGTTGGCAGCCTGGCAAGCAAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.051 A=0.086 C2=0.463
Domain overlap (PFAM):

C1:
PF0088013=Nebulin=PD(37.9=28.2),PF0088013=Nebulin=PU(55.2=41.0)
A:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(57.1=45.7)
C2:
PF0088013=Nebulin=PD(35.7=27.8),PF0088013=Nebulin=PU(53.8=38.9)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAATACAGGCAGGACTTCAATAAGA
R:
CTTGCCAGGCTGCCAACTTTC
Band lengths:
218-323
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