HsaEX6090558 @ hg38
Exon Skipping
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113614183-113615816:-
Coord C1 exon
chr10:113615712-113615816
Coord A exon
chr10:113614839-113614946
Coord C2 exon
chr10:113614183-113614296
Length
108 bp
Sequences
Splice sites
3' ss Seq
TGTGCACATCTTCCCGACAGACG
3' ss Score
8.25
5' ss Seq
GATGTGAGC
5' ss Score
4.72
Exon sequences
Seq C1 exon
AGATTATACAGGGAACAAGGAGAAAACATAAAGCATCATTACACACCGACTGCTGACCTCCCTGAAGTCCTGCTGGCCAAGCTGAATGCCATGAATATCAGTGAG
Seq A exon
ACGCGTTATAAGGAATCCTGGAGCAAACTTCGAGATGGTGGCTATAAACTGAGGTTGGATGCCCTTCCATTCCAAGCAGCAAAGGCTTCTGGTGAAATCATAAGTGAT
Seq C2 exon
TACAAATACAAAGAGGCATTTGAGAAAATGAAAGGACAGATGCTTGGTTCCCGGAGCTTGGAAGATGATATCAGCCTTGCACATTCAGTGTATGCGACCTCACTGCAGAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-'43-40,'43-39,44-40
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=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4)
A:
PF0088013=Nebulin=PU(55.2=44.4)
C2:
PF0088013=Nebulin=PD(37.9=28.9),PF0088013=Nebulin=PU(55.2=42.1)
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:
TACAGGGAACAAGGAGAAAACA
R:
ACTCTGCAGTGAGGTCGCATA
Band lengths:
210-318
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains