HsaEX6015964 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151567168-151568417:-
Coord C1 exon
chr2:151568316-151568417
Coord A exon
chr2:151568071-151568178
Coord C2 exon
chr2:151567168-151567479
Length
108 bp
Sequences
Splice sites
3' ss Seq
ATGGTGGCTCTGTCTTTCAGTAT
3' ss Score
7.85
5' ss Seq
GAGGTAATA
5' ss Score
7.96
Exon sequences
Seq C1 exon
ATTAAATACCGGAAAGACTGGAATGCCACCAAATCAAAGTACACCCTCACAGAAACCCCCCTGCTGCACACTGCCCAGGAGGCTGCTAGGATACTGGACCAG
Seq A exon
TATCTCTACAAGGAAGGCTGGGAGAGACAAAAAGCCACAGGTTACATTTTGCCTCCAGATGCTGTGCCATTTGTTCATGCCCATCACTGCAATGACGTTCAGAGTGAG
Seq C2 exon
CTGAAATACAAAGCTGAACATGTGAAGCAAAAAGGTCATTATGTTGGTGTCCCGACGATGAGAGATGATCCTAAGCTGGTTTGGTTTGAGCATGCAGGCCAGATTCAGAATGAGAGACTATACAAAGAGGACTATCACAAAACAAAGGCCAAAATCAATATACCTGCTGATATGGTGTCAGTCTTGGCCGCCAAGCAGGGGCAGACCCTTGTCAGTGATATTGATTATCGTAATTACTTGCACCAATGGATGTGTCATCCTGACCAGAACGATGTTATTCAGGCAAGAAAGGCCTATGACCTACAGAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'130-127,'130-126,131-127
Average complexity
S
Mappability confidence:
88%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.019
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=32.4),PF0088013=Nebulin=PU(55.2=47.1)
A:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
C2:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=27.9),PF0088013=Nebulin=PU(55.2=15.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TACACCCTCACAGAAACCCCC
R:
CGGCCAAGACTGACACCATAT
Band lengths:
253-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains