HsaEX6015963 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151568071-151568716:-
Coord C1 exon
chr2:151568618-151568716
Coord A exon
chr2:151568316-151568417
Coord C2 exon
chr2:151568071-151568178
Length
102 bp
Sequences
Splice sites
3' ss Seq
TCTCATTTTTTTTTTTTTAGATT
3' ss Score
11.42
5' ss Seq
CAGGTATGG
5' ss Score
9.99
Exon sequences
Seq C1 exon
AAAAAATATCGCACAAAAATAGAAACTCTCAACTTTACGCCTGTGGATGACAGAGTTGATTATGTGACAGCGAAACAAAGTGGCGAGATCCTCGATGAT
Seq A exon
ATTAAATACCGGAAAGACTGGAATGCCACCAAATCAAAGTACACCCTCACAGAAACCCCCCTGCTGCACACTGCCCAGGAGGCTGCTAGGATACTGGACCAG
Seq C2 exon
TATCTCTACAAGGAAGGCTGGGAGAGACAAAAAGCCACAGGTTACATTTTGCCTCCAGATGCTGTGCCATTTGTTCATGCCCATCACTGCAATGACGTTCAGAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'129-126,'129-125,130-126=AN
Average complexity
A_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=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(28.0=21.2),PF0088013=Nebulin=PU(55.2=48.5)
A:
PF0088013=Nebulin=PD(37.9=32.4),PF0088013=Nebulin=PU(55.2=47.1)
C2:
PF0088013=Nebulin=PD(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATATCGCACAAAAATAGAAACTCTCA
R:
CTCACTCTGAACGTCATTGCAGT
Band lengths:
202-304
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains