HsaEX0034990 @ hg38
Exon Skipping
Gene
ENSG00000108424 | KPNB1
Description
karyopherin subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:6400]
Coordinates
chr17:47668186-47670832:+
Coord C1 exon
chr17:47668186-47668410
Coord A exon
chr17:47669678-47669869
Coord C2 exon
chr17:47670702-47670832
Length
192 bp
Sequences
Splice sites
3' ss Seq
AATAACTGTTATATTTTCAGGCT
3' ss Score
7.81
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
Exon sequences
Seq C1 exon
GACGAAAATGATGATGACGATGACTGGAACCCCTGCAAAGCAGCAGGGGTGTGCCTCATGCTTCTGGCCACCTGCTGTGAAGATGACATTGTCCCACATGTCCTCCCCTTCATTAAAGAACACATCAAGAACCCAGATTGGCGGTACCGGGATGCAGCAGTGATGGCTTTTGGTTGTATCTTGGAAGGACCAGAGCCCAGTCAGCTCAAACCACTAGTTATACAG
Seq A exon
GCTATGCCCACCCTAATAGAATTAATGAAAGACCCCAGTGTAGTTGTTCGAGATACAGCTGCATGGACTGTAGGCAGAATTTGTGAGCTGCTTCCTGAAGCTGCCATCAATGATGTCTACTTGGCTCCCCTGCTACAGTGTCTGATTGAGGGTCTCAGTGCTGAACCCAGAGTGGCTTCAAATGTGTGCTGG
Seq C2 exon
GCTTTCTCCAGTCTGGCTGAAGCTGCTTATGAAGCTGCAGACGTTGCTGATGATCAGGAAGAACCAGCTACTTACTGCTTATCTTCTTCATTTGAACTCATAGTTCAGAAGCTCCTAGAGACTACAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108424_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.082 A=0.000 C2=0.009
Domain overlap (PFAM):
C1:
PF135131=HEAT_EZ=PU(50.0=37.3)
A:
PF135131=HEAT_EZ=PD(46.4=40.6)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGACGATGACTGGAACCCCT
R:
CATAAGCAGCTTCAGCCAGACT
Band lengths:
243-435
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