HsaEX6015957 @ hg38
Exon Skipping
Gene
ENSG00000183091 | NEB
Description
nebulin [Source:HGNC Symbol;Acc:HGNC:7720]
Coordinates
chr2:151610762-151614587:-
Coord C1 exon
chr2:151614276-151614587
Coord A exon
chr2:151612186-151612389
Coord C2 exon
chr2:151610762-151610866
Length
204 bp
Sequences
Splice sites
3' ss Seq
TGACATTATTTCATTTTCAGGCT
3' ss Score
9.15
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
TACAAGTACAAGGAAGGCTACCGCAAACAGCTTGGCCACCATATTGGGGCCCGGAACATTAAGGATGACCCGAAGATGATGTGGTCCATCCATGTGGCCAAGATCCAGAGTGACAGGGAGTACAAGAAGGAGTTTGAGAAGTGGAAGACCAAGTTCAGCAGCCCAGTGGACATGCTGGGGGTGGTGCTGGCCAAGAAGTGTCAGATCCTTGTAAGCGACATAGACTACAAGCATCCCCTGCATGAATGGACCTGCCTGCCTGATCAGAATGACGTCATTCAGGCTCGGAAGGCCTATGACCTGCAGAGTGAT
Seq A exon
GCTATTTACAAATCTGATCTTGAGTGGCTGAGAGGCATAGGATGGGTTCCCATTGGCTCTGTAGAGGTCGAGAAAGTGAAGAGAGCTGGAGAAATCCTGAGTGACAGGAAGTATCGCCAGCCTGCAGACCAGCTCAAATTCACATGCATTACCGACACTCCGGAAATTGTCCTAGCAAAGAATAATGCCCTGACAATGAGCAAG
Seq C2 exon
CATTTATACACAGAAGCTTGGGATGCTGACAAAACCTCCATCCACGTGATGCCAGACACCCCAGATATCCTGCTGGCCAAGAGTAATTCTGCCAATATCAGCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183091-'90-90,'90-89,92-90=AN
Average complexity
A_S
Mappability confidence:
89%=100=75%
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=10.6),PF0088013=Nebulin=WD(100=27.9),PF0088013=Nebulin=PU(55.2=15.4)
A:
PF0088013=Nebulin=PD(37.9=16.2),PF0088013=Nebulin=PU(55.2=23.5)
C2:
PF0088013=Nebulin=PD(37.9=31.4),PF0088013=Nebulin=PU(55.2=45.7)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATCCATGTGGCCAAGATCC
R:
AGGATATCTGGGGTGTCTGGC
Band lengths:
298-502
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains