Special

HsaEX6015943 @ hg19

Exon Skipping

Gene
Description
nebulin [Source:HGNC Symbol;Acc:7720]
Coordinates
chr2:152512331-152514604:-
Coord C1 exon
chr2:152514497-152514604
Coord A exon
chr2:152512667-152512978
Coord C2 exon
chr2:152512331-152512537
Length
312 bp
Sequences
Splice sites
3' ss Seq
AACTCATATTTTCTTCACAGTAT
3' ss Score
6.6
5' ss Seq
GATGTAAGG
5' ss Score
6.35
Exon sequences
Seq C1 exon
AAACTCTACAAACTTTCCTTGGAAGAGTCTAAAAAGAAAGGCTATGATCTCAGACCTGATGCAATTCCTATCAAAGCTGCCAAGGCTTCCAGAGATATTGCAAGTGAT
Seq A exon
TATAAATACAAGTACAATTATGAAAAAGGGAAGGGGAAAATGGTTGGTTTCCGCAGTCTCGAGGATGATCCCAAATTAGTCCATTCCATGCAAGTGGCTAAGATGCAATCTGATCGGGAGTACAAGAAAAACTATGAGAACACAAAGACCAGCTACCACACCCCTGCCGACATGCTCAGTGTCACGGCTGCAAAGGATGCCCAAGCCAACATCACCAACACTAACTACAAGCACCTGATTCACAAGTACATCCTCCTTCCAGATGCAATGAACATTGAGCTGACCAGGAATATGAATCGCATACAGAGTGAT
Seq C2 exon
AATGAATATAAGCAAGATTACAATGAATGGTACAAAGGGCTTGGCTGGAGTCCAGCAGGTTCTCTGGAAGTGGAGAAGGCCAAGAAAGCAACTGAATATGCCAGTGATCAGAAATACCGCCAGCACCCGAGCAACTTCCAGTTTAAGAAGCTGACTGATTCCATGGACATGGTGCTTGCCAAGCAGAATGCACATACCATGAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'49-50,'49-49,50-50=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.240 C2=0.101
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=15.9),PF0088013=Nebulin=PU(55.2=23.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTCTACAAACTTTCCTTGGAAGAGT
R:
TGTTCATGGTATGTGCATTCTGCT
Band lengths:
311-623
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains