HsaEX1025438 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20812769-20959999:-
Coord C1 exon
chr10:20959924-20959999
Coord A exon
chr10:20958846-20958966
Coord C2 exon
chr10:20812769-20812940
Length
121 bp
Sequences
Splice sites
3' ss Seq
ATGTTTTGAAATTTTTTCAGCTC
3' ss Score
7.73
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
GAATATACATTTTATTCAATACCAGAGGTGGTTTGCAGATCCATTCTTAATTATGCAAAATACCCTTATCACACAG
Seq A exon
CTCTTCTCATGTTTGTTTATTGAGGATTTGAAATCATTTGGAAATGACCACTCAGTCTGCATGTTACTGAGGTGTGGGATAAAATACAACCGTAAATTTCAAATTGAGTGTGATGAACGAG
Seq C2 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-9/44=8-42
Average complexity
C3*
Mappability confidence:
84%=90=95%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.455
Domain overlap (PFAM):
C1:
NA
A:
PF047658=DUF616=PD(28.5=85.4)
C2:
PF0088013=Nebulin=PD(37.9=19.0),PF0088013=Nebulin=WD(100=41.4)
Main Inclusion Isoform:
ENST00000417816fB20956
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
- HsaALTD0004262-1/2
- HsaALTD0004262-2/2
- HsaEX0042351
- HsaEX0042356
- HsaEX0042362
- HsaEX0042363
- HsaEX0042364
- HsaEX0042365
- HsaEX0042366
- HsaEX0042367
- HsaEX0042368
- HsaEX0042369
- HsaEX0042370
- HsaEX0042371
- HsaEX0042372
- HsaEX0042373
- HsaEX0042374
- HsaEX0042375
- HsaEX0042376
- HsaEX0042377
- HsaEX0042378
- HsaEX1025425
- HsaEX1025426
- HsaEX1025428
- HsaEX1025430
- HsaEX1025437
- HsaEX6087794
- HsaINT0112263
- HsaINT0112264
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:
CCAGAGGTGGTTTGCAGATCC
R:
CAACAATGATTCCAGGTCTCCT
Band lengths:
227-348
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains