HsaEX0043743 @ hg38
Exon Skipping
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113621869-113624930:-
Coord C1 exon
chr10:113624826-113624930
Coord A exon
chr10:113623529-113623636
Coord C2 exon
chr10:113621869-113622180
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-'36-30,'36-29,38-30
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.057 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 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:
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