HsaEX0043745 @ hg19
Exon Skipping
Gene
ENSG00000197893 | NRAP
Description
nebulin-related anchoring protein [Source:HGNC Symbol;Acc:7988]
Coordinates
chr10:115357728-115365628:-
Coord C1 exon
chr10:115365521-115365628
Coord A exon
chr10:115364368-115364679
Coord C2 exon
chr10:115357728-115357832
Length
312 bp
Sequences
Splice sites
3' ss Seq
CGGCCAGCCCTTTCTTGCAGTTT
3' ss Score
5.83
5' ss Seq
GAGGTAGGG
5' ss Score
7.81
Exon sequences
Seq C1 exon
GCAAGATACAAAGAGTCCTGGCGTAATCTTCGTGCTCAAGGCTACAAGCTGACAATAGAAGCGCTCCCCTTCCAGGCTGCCCGGGCCTCTGGAGATATAGCCAGTGAT
Seq A exon
TTTCTCTACAGACATGACTTTGTGAAGGAGCGAGGGAAACTCATAGGGCCCCAGAGTGTAAGAGACGACCCCCGGATCCAGCACTGCCGGCGCATGGGCCAGCTGCAGAGCGAGCTTCAGTACAGGAGGGGGGCGACCAGCAGCCAAGCCCAGTTCCATCTGCCCATGGACATGGTGCACCTGGTCCATGCCAAGAATGCCCAGGCTCTGGCCAGCGACCACGACTACAGGACACAGTATCACAAGTTCACAGCACTGCCCGAGGACCTGAAGATGGCCTGGGCCAAGAAAGCCCATGCCCTGCAGAGTGAG
Seq C2 exon
TTGCGCTACAAGTCAGACCTGATCGGCATGAAGGGCATAGGATGGCTGGCGCTGAGATCCCCACAGATGGAGAGTGCAAAGAAGGCTGGAGAACTCATCAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893_MULTIEX2-13/13=12-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.160 C2=0.200
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(39.3=30.6),PF0088013=Nebulin=PU(55.2=44.4)
A:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=24.0),PF0088013=Nebulin=WD(100=27.9),PF0088013=Nebulin=PU(55.2=15.4)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
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:
AGATACAAAGAGTCCTGGCGT
R:
CTCGCTGATGAGTTCTCCAGC
Band lengths:
210-522
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
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)