HsaALTD0004262-2/2 @ hg19
Alternative 5'ss
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:16932]
Coordinates
chr10:21104554-21106579:-
Coord C1 exon
chr10:21106529-21106579
Coord A exon
chr10:21106527-21106528
Coord C2 exon
chr10:21104554-21104646
Length
2 bp
Sequences
Splice sites
5' ss Seq
TGTGTGATC
5' ss Score
-9.4
3' ss Seq
TTTGTTCTCTGAAATGATAGGTT
3' ss Score
4.92
Exon sequences
Seq C1 exon
GATCCACCAGAGCTGAAGAGGGCAAAAGAAAACCAGAAAAACATCAGCAAT
Seq A exon
GT
Seq C2 exon
GTTTATTACAGAGGTCAGCTGGGAAGAGCTACCACTTTAAGTGTAACTCCTGAAATGGAAAGAGTGAAGAAGAATCAAGAAAATATTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-34-39,35-39-2/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
ORF disruption when splice site is used (sequence inclusion)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=0.808
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(37.9=35.5),PF0088013=Nebulin=PU(57.1=51.6)
A:
NA
C2:
PF0088013=Nebulin=PD(35.7=32.3),PF0088013=Nebulin=PU(55.2=51.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCACCAGAGCTGAAGAGGG
R:
CACTTAAAGTGGTAGCTCTTCCCA
Band lengths:
93-95
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)