HsaEX6034601 @ hg38
Exon Skipping
Gene
ENSG00000185630 | PBX1
Description
PBX homeobox 1 [Source:HGNC Symbol;Acc:HGNC:8632]
Coordinates
chr1:164799699-164812149:+
Coord C1 exon
chr1:164799699-164799889
Coord A exon
chr1:164807542-164807677
Coord C2 exon
chr1:164811990-164812149
Length
136 bp
Sequences
Splice sites
3' ss Seq
TTTCCTTTCTCTTTACAAAGGCG
3' ss Score
8.02
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
Exon sequences
Seq C1 exon
GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG
Seq A exon
GCGGAAGAGACGGAATTTCAACAAGCAAGCGACAGAAATCCTGAATGAATATTTCTATTCCCATCTCAGCAACCCTTACCCCAGTGAGGAAGCCAAAGAGGAGTTAGCCAAGAAGTGTGGCATCACAGTCTCCCAG
Seq C2 exon
GTATCAAACTGGTTTGGAAATAAGCGAATCCGGTACAAGAAGAACATAGGTAAATTTCAAGAGGAAGCCAATATTTATGCTGCCAAAACAGCTGTCACTGCTACCAATGTGTCAGCCCATGGAAGCCAAGCTAACTCGCCCTCAACTCCCAACTCGGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185630-'45-40,'45-39,56-40=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.231 A=0.039 C2=0.333
Domain overlap (PFAM):
C1:
PF037928=PBC=PD(48.0=95.3),PF070286=DUF1319=PD(60.7=79.7),PF040917=Sec15=PD(59.2=65.6)
A:
PF0004624=Homeobox=PU(75.0=97.8)
C2:
PF0004624=Homeobox=PD(21.7=24.1)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGGTCAGCATCATCCACCG
R:
GCGAGTTAGCTTGGCTTCCAT
Band lengths:
244-380
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains