HsaEX6015987 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151538140-151540801:-
Coord C1 exon
chr2:151540697-151540801
Coord A exon
chr2:151540344-151540448
Coord C2 exon
chr2:151538140-151538244
Length
105 bp
Sequences
Splice sites
3' ss Seq
CTTCTGCATTTATTTCTCAGAAA
3' ss Score
8.45
5' ss Seq
GATGTATGC
5' ss Score
3.89
Exon sequences
Seq C1 exon
TATCTGTATGTTGAACTTGCCACCAAAGAGAGACCCCATCATCACGCTGGAAACCAGACCACAGCCTTGAAGCATGCTAAAGACGTGAAGGACATGGTCAGTGAG
Seq A exon
AAAAAGTACAAGATTCAATATGAAAAGATGAAAGACAAGTACACTCCGGTTCCAGATACGCCAATCCTCATCAGAGCCAAGAGGGCTTACTGGAATGCCAGTGAT
Seq C2 exon
CTACGCTACAAAGAAACATTTCAAAAGACCAAAGGGAAATACCACACGGTGAAAGATGCCCTAGACATTGTCTATCATCGCAAAGTCACAGATGACATCAGTAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'160-160,'160-158,161-160
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.463 A=0.005 C2=0.000
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PU(50.0=37.1)
A:
PF0088013=Nebulin=PD(42.3=31.4),PF0088013=Nebulin=PU(55.2=45.7)
C2:
PF0088013=Nebulin=PD(37.9=31.4)
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:
TCTGTATGTTGAACTTGCCACCA
R:
TCATCTGTGACTTTGCGATGA
Band lengths:
198-303
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains