HsaEX6090563 @ hg38
Exon Skipping
Gene
ENSG00000197893 | NRAP
Description
nebulin related anchoring protein [Source:HGNC Symbol;Acc:HGNC:7988]
Coordinates
chr10:113604609-113606282:-
Coord C1 exon
chr10:113606178-113606282
Coord A exon
chr10:113605762-113605869
Coord C2 exon
chr10:113604609-113604920
Length
108 bp
Sequences
Splice sites
3' ss Seq
TACATGTGTTCCCACTTTAGGCA
3' ss Score
8.61
5' ss Seq
GATGTGAGT
5' ss Score
7.77
Exon sequences
Seq C1 exon
CGCCTCTATAAAGCAGCTGGAGAGGATGCAAGACACGAGTATACAATGACCCTGGGTCTGCCCGAGTTCATCCGAGCAAAAACGAATGCAGCCAACCTGAGTGAC
Seq A exon
GCAAGATACAAAGAGTCCTGGCGTAATCTTCGTGCTCAAGGCTACAAGCTGACAATAGAAGCGCTCCCCTTCCAGGCTGCCCGGGCCTCTGGAGATATAGCCAGTGAT
Seq C2 exon
TTTCTCTACAGACATGACTTTGTGAAGGAGCGAGGGAAACTCATAGGGCCCCAGAGTGTAAGAGACGACCCCCGGATCCAGCACTGCCGGCGCATGGGCCAGCTGCAGAGCGAGCTTCAGTACAGGAGGGGGGCGACCAGCAGCCAAGCCCAGTTCCATCTGCCCATGGACATGGTGCACCTGGTCCATGCCAAGAATGCCCAGGCTCTGGCCAGCGACCACGACTACAGGACACAGTATCACAAGTTCACAGCACTGCCCGAGGACCTGAAGATGGCCTGGGCCAAGAAAGCCCATGCCCTGCAGAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197893-'52-49,'52-48,53-49
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=0.135
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(53.6=42.9)
A:
PF0088013=Nebulin=PD(39.3=30.6),PF0088013=Nebulin=PU(55.2=44.4)
C2:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=24.0),PF0088013=Nebulin=WD(100=27.9)
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:
CCCGAGTTCATCCGAGCAAAA
R:
ATTCTTGGCATGGACCAGGTG
Band lengths:
243-351
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains