HsaEX0043742 @ hg38
Exon Skipping
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113641365-113645941:-
Coord C1 exon
chr10:113645825-113645941
Coord A exon
chr10:113642934-113643038
Coord C2 exon
chr10:113641365-113641472
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-'15-14,'15-13,18-14
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.072 A=0.086 C2=0.478
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)
Associated events
Other assemblies
Conservation
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