HsaEX0042373 @ hg38
Exon Skipping
Gene
ENSG00000078114 | NEBL
Description
nebulette [Source:HGNC Symbol;Acc:HGNC:16932]
Coordinates
chr10:20812769-20880904:-
Coord C1 exon
chr10:20880794-20880904
Coord A exon
chr10:20869740-20869841
Coord C2 exon
chr10:20812769-20812940
Length
102 bp
Sequences
Splice sites
3' ss Seq
CCAAAACTGTCTCTGATCAGATT
3' ss Score
6.21
5' ss Seq
AATGTAACT
5' ss Score
5.91
Exon sequences
Seq C1 exon
GTGGCCTACAAGCAGAAACATGATGCTGCCAAAGGATTCTCAGATTATGCCCACATGAAGGAGCCCCCTGAGGTTAAACATGCCATGGAGGTCAATAAACACCAGAGTAAT
Seq A exon
ATTTCTTATAGGAAAGACGTGCAGGACACCCACACGTACAGTGCAGAACTTGACCGACCAGACATCAAGATGGCAACCCAGATCTCTAAGATCATAAGCAAT
Seq C2 exon
GTAAAATACCATGAAGATTTTGAAAAAACAAAGGGGAGAGGCTTTACTCCCGTCGTGGACGATCCTGTGACAGAGAGAGTGAGGAAGAACACCCAGGTGGTCAGCGATGCTGCCTATAAAGGGGTCCACCCTCACATCGTGGAGATGGACAGGAGACCTGGAATCATTGTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000078114_MULTIEX1-22/44=21-42
Average complexity
C3
Mappability confidence:
88%=96=85%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.555 A=0.529 C2=0.455
Domain overlap (PFAM):
C1:
PF0088013=Nebulin=PD(39.3=29.7),PF0088013=Nebulin=PU(59.3=43.2)
A:
PF0088013=Nebulin=PD(33.3=26.5)
C2:
PF0088013=Nebulin=PD(37.9=19.0),PF0088013=Nebulin=WD(100=41.4)
Main Skipping Isoform:
ENST00000417816fB4616
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
- HsaALTD0004262-1/2
- HsaALTD0004262-2/2
- HsaEX0042356
- HsaEX0042362
- HsaEX0042363
- HsaEX0042364
- HsaEX0042365
- HsaEX0042366
- HsaEX0042367
- HsaEX0042368
- HsaEX0042369
- HsaEX0042370
- HsaEX0042371
- HsaEX0042372
- HsaEX0042374
- HsaEX0042375
- HsaEX0042376
- HsaEX0042377
- HsaEX0042378
- HsaEX1025426
- HsaEX1025428
- HsaEX1025430
- HsaEX1025437
- HsaEX1025438
- HsaEX6087794
- HsaINT0112263
- HsaINT0112264
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGAAACATGATGCTGCCAA
R:
GTCTCCTGTCCATCTCCACGA
Band lengths:
257-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development