HsaEX6090558 @ hg19
Exon Skipping
Gene
ENSG00000197893 | NRAP
Description
nebulin-related anchoring protein [Source:HGNC Symbol;Acc:7988]
Coordinates
chr10:115373942-115375575:-
Coord C1 exon
chr10:115375471-115375575
Coord A exon
chr10:115374598-115374705
Coord C2 exon
chr10:115373942-115374055
Length
108 bp
Sequences
Splice sites
3' ss Seq
TGTGCACATCTTCCCGACAGACG
3' ss Score
8.25
5' ss Seq
GATGTGAGC
5' ss Score
4.72
Exon sequences
Seq C1 exon
AGATTATACAGGGAACAAGGAGAAAACATAAAGCATCATTACACACCGACTGCTGACCTCCCTGAAGTCCTGCTGGCCAAGCTGAATGCCATGAATATCAGTGAG
Seq A exon
ACGCGTTATAAGGAATCCTGGAGCAAACTTCGAGATGGTGGCTATAAACTGAGGTTGGATGCCCTTCCATTCCAAGCAGCAAAGGCTTCTGGTGAAATCATAAGTGAT
Seq C2 exon
TACAAATACAAAGAGGCATTTGAGAAAATGAAAGGACAGATGCTTGGTTCCCGGAGCTTGGAAGATGATATCAGCCTTGCACATTCAGTGTATGCGACCTCACTGCAGAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-'28-30,'28-29,29-30=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.055 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4)
A:
PF0088013=Nebulin=PU(55.2=44.4)
C2:
PF0088013=Nebulin=PD(37.9=28.9),PF0088013=Nebulin=PU(55.2=42.1)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACAGGGAACAAGGAGAAAACA
R:
ACTCTGCAGTGAGGTCGCATA
Band lengths:
210-318
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)