HsaEX6015954 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151618275-151621026:-
Coord C1 exon
chr2:151620919-151621026
Coord A exon
chr2:151619451-151619762
Coord C2 exon
chr2:151618275-151618478
Length
312 bp
Sequences
Splice sites
3' ss Seq
TACTGGATTCTCTCTTTCAGTAC
3' ss Score
8.14
5' ss Seq
GACGTAAGT
5' ss Score
10.93
Exon sequences
Seq C1 exon
AGCCTCTATCGTCAGGCCATGGAAGAAGCCAAGAAAGAAGGCTATGACTTGAGAAGTGATGCCATTCCCATTGTGGCTGCCAAGGCCTCTCGGGATATTGCCAGTGAT
Seq A exon
TACAAATACAAAGAAGCATATCGTAAACAGTTGGGTCACCACATTGGCGCCCGAGCAGTACACGATGACCCCAAGATAATGTGGTCCCTCCACATTGCCAAAGTGCAGAGTGACCGTGAGTACAAGAAAGATTTTGAGAAATACAAGACAAGGTACAGCAGCCCAGTGGACATGCTTGGTATCGTTTTGGCCAAGAAGTGTCAGACCTTGGTCAGCGATGTGGACTATAAACATCCTCTGCATGAATGGATCTGCCTGCCCGACCAGAATGACATCATTCATGCACGGAAAGCCTATGACCTCCAGAGTGAC
Seq C2 exon
AATTTGTATAAGTCAGACCTTGAATGGATGAAAGGCATTGGCTGGGTTCCGATTGATTCCTTGGAAGTTGTTAGGGCCAAGAGAGCTGGAGAATTACTTAGTGATACTATCTACCGTCAGCGTCCAGAAACGCTGAAATTTACCAGTATAACGGACACTCCGGAGCAGGTGCTGGCAAAAAACAATGCTTTAAACATGAATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'84-84,'84-83,85-84=AN
Average complexity
A_S
Mappability confidence:
75%=50=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(37.9=30.6),PF0088013=Nebulin=PU(55.2=44.4)
A:
PF0088013=Nebulin=PD(37.9=10.6),PF0088013=Nebulin=WD(100=27.9),PF0088013=Nebulin=PU(55.2=15.4)
C2:
PF0088013=Nebulin=PD(37.9=16.2),PF0088013=Nebulin=PU(55.2=23.5)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCTCTATCGTCAGGCCATG
R:
ACCTGCTCCGGAGTGTCC
Band lengths:
278-590
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains