HsaALTD0004262-1/2 @ hg38
Alternative 5'ss
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20815625-20817650:-
Coord C1 exon
chr10:20817600-20817650
Coord A exon
NA
Coord C2 exon
chr10:20815625-20815717
Length
0 bp
Sequences
Splice sites
5' ss Seq
AATGTGTGA
5' ss Score
-2.26
3' ss Seq
TTTGTTCTCTGAAATGATAGGTT
3' ss Score
4.92
Exon sequences
Seq C1 exon
GATCCACCAGAGCTGAAGAGGGCAAAAGAAAACCAGAAAAACATCAGCAAT
Seq A exon
NA
Seq C2 exon
GTTTATTACAGAGGTCAGCTGGGAAGAGCTACCACTTTAAGTGTAACTCCTGAAATGGAAAGAGTGAAGAAGAATCAAGAAAATATTAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114-88-85,89-85-1/2
Average complexity
Alt5
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.929 A=NA C2=0.670
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)
Associated events
- HsaALTD0004262-2/2
- HsaEX0042362
- HsaEX0042363
- HsaEX0042364
- HsaEX0042365
- HsaEX0042366
- HsaEX0042367
- HsaEX0042368
- HsaEX0042369
- HsaEX0042371
- HsaEX0042372
- HsaEX0042373
- HsaEX0042374
- HsaEX0042375
- HsaEX0042376
- HsaEX0042377
- HsaEX0042378
- HsaEX1025426
- HsaEX1025428
- HsaEX1025430
- HsaEX1025437
- HsaEX1025438
- HsaEX6087794
- HsaINT0112263
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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