HsaEX6015938 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151663548-151664863:-
Coord C1 exon
chr2:151664759-151664863
Coord A exon
chr2:151664501-151664608
Coord C2 exon
chr2:151663548-151663859
Length
108 bp
Sequences
Splice sites
3' ss Seq
TTTTCTATTTTATTGTTTAGAAA
3' ss Score
8.28
5' ss Seq
GATGTAAGT
5' ss Score
9.11
Exon sequences
Seq C1 exon
AGGCTCTACACTGAAAAATGGAACAAGGACAAGACCACCATTCATGTCATGCCTGACACACCGGATATTTTACTCTCCAGAGTAAACCAAATCACCATGAGTGAT
Seq A exon
AAACTGTACAAAGCTGGCTGGGAAGAGGAAAAGAAGAAAGGATATGACCTGAGGCCTGATGCCATTGCAATAAAGGCTGCAAGAGCCTCTAGAGACATTGCCAGTGAT
Seq C2 exon
TACAAATACAAGAAAGCCTATGAACAAGCCAAAGGGAAACACATTGGCTTCCGGAGCCTGGAAGATGACCCCAAGCTGGTGCACTTCATGCAAGTGGCCAAGATGCAGTCAGACCGGGAATACAAGAAGGGATATGAGAAATCCAAGACCTCCTTCCACACCCCGGTGGACATGCTCAGTGTGGTGGCAGCCAAGAAGTCTCAGGAAGTGGCCACCAATGCCAACTACAGGAACGTGATCCATACCTACAACATGCTTCCTGATGCCATGAGCTTTGAATTGGCCAAAAATATGATGCAGATTCAAAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'53-54,'53-53,54-54=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=0.038
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
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:
TCATGCCTGACACACCGGATA
R:
CACCACACTGAGCATGTCCAC
Band lengths:
245-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains