HsaEX6090542 @ hg38
Exon Skipping
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113650438-113653039:-
Coord C1 exon
chr10:113652935-113653039
Coord A exon
chr10:113651803-113651907
Coord C2 exon
chr10:113650438-113650545
Length
105 bp
Sequences
Splice sites
3' ss Seq
CTCTACTGTCTTCTCATCAGGTG
3' ss Score
9.46
5' ss Seq
GATGTAAGA
5' ss Score
5.46
Exon sequences
Seq C1 exon
GAATATACAGAAGACTATGAGCAACCCAGGGGCAAGGGGAGCTTTCCAGCCATGATCACACCTGCTTATCAAAGGGCCAAGAAAGCCAACCAGCTGGCCAGCCAA
Seq A exon
GTGGAGTATAAGAGAGGGCATGATGAACGCATCTCCAGGTTCTCCACGGTGGTGGATACTCCTGAGCTGCTACGGAGCAAGGCTGGGGCACAGCTTCAAAGTGAT
Seq C2 exon
GTGAGATACACAGAGGACTATGAACAACAAAGAGGGAAAGGCAGTTTCCCTGCGATGATCACACCCGCCTATCAGATAGCCAAAAGAGCCAATGAGCTGGCAAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-'8-9,'8-8,9-9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.771 A=0.543 C2=0.389
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PU(55.2=45.7)
A:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(57.1=44.4)
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:
TATACAGAAGACTATGAGCAACCCA
R:
ATCACTTGCCAGCTCATTGG
Band lengths:
210-315
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains