HsaEX6090551 @ hg38
Exon Skipping
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113628917-113631630:-
Coord C1 exon
chr10:113631509-113631630
Coord A exon
chr10:113629588-113629785
Coord C2 exon
chr10:113628917-113629021
Length
198 bp
Sequences
Splice sites
3' ss Seq
CTTGTTTTGGTATATTCAAGGTT
3' ss Score
7.15
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
Exon sequences
Seq C1 exon
ACCTTCTTCTTTCTCTCAAGATTAAATATAAAGAAGAATATGAAAAGACAAAAGGCAAAGCCATGGGAACAGCCGACTCTAGGCTTCTGCACTCCCTGCAGATTGCTAAGATGAGCAGTGAG
Seq A exon
GTTGAATATAAGAAAGGCTTTGAAGAGAGTAAGACCCGGTTTCACCTGCCCATGGATATGGTAAACATCAGGCATGCTAAGAAGGCCCAAACTCTCGCCAGTGACCTGGACTACAGGAAGAAACTGCATGAATACACTGTGCTGCCTGAAGATATGAAGACTCAGTGGGCCAAGAAGGCCTATGGGCTCCAGAGCGAG
Seq C2 exon
CTGCAGTACAAGGCTGACCTGGCATGGATGAAGGGAGTTGGGTGGCTGACAGAGGGGAGTCTCAACTTGGAACAAGCCAAGAAGGCTGGACAGCTGGTCAGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-'27-24,'27-23,29-24
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=0.000 C2=0.057
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=32.4)
A:
PF0088013=Nebulin=WD(100=40.9),PF0088013=Nebulin=PU(55.2=24.2)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(57.1=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:
AGAAGAATATGAAAAGACAAAAGGCA
R:
TGGCTTGTTCCAAGTTGAGACT
Band lengths:
170-368
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains