HsaALTD1004892-2/2 @ hg38
Alternative 5'ss
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20812769-20814043:-
Coord C1 exon
chr10:20814010-20814043
Coord A exon
chr10:20813939-20814009
Coord C2 exon
chr10:20812769-20812940
Length
71 bp
Sequences
Splice sites
5' ss Seq
ATGGTAGGG
5' ss Score
5.88
3' ss Seq
GATGATTTTTCCTTTTTCAGGTA
3' ss Score
11.8
Exon sequences
Seq C1 exon
GTAAAATATACCCAGGACCATAAACAGATGAAAG
Seq A exon
GTAGACCAAGTCTGATTTTAGATACACCTGCTATGAGACATGTTAAAGAAGCACAAAATCATATTTCAATG
Seq C2 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-91-87,92-87-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.854 A=NA C2=0.455
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=FE(37.9=100)
A:
NA
C2:
PF0088013=Nebulin=PD(37.9=19.0),PF0088013=Nebulin=WD(100=41.4)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
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:
ACCCAGGACCATAAACAGATGA
R:
GTCTCCTGTCCATCTCCACGA
Band lengths:
182-253
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains