Special

HsaEX6094145 @ hg38

Exon Skipping

Gene
Description
PBX homeobox 4 [Source:HGNC Symbol;Acc:HGNC:13403]
Coordinates
chr19:19569449-19570833:-
Coord C1 exon
chr19:19570687-19570833
Coord A exon
chr19:19570109-19570299
Coord C2 exon
chr19:19569449-19569584
Length
191 bp
Sequences
Splice sites
3' ss Seq
TGTCTGTGCTCCCACCCCAGGCC
3' ss Score
9.31
5' ss Seq
CAGGTCAGG
5' ss Score
7.2
Exon sequences
Seq C1 exon
TGGTAAGCATCCGTGGCATTCAAGACGAAGATCCCCCTGACGCCCAGCTCCTGAGGCTGGATAACATGCTGCTGGCTGAGGGCGTGTGCAGGCCCGAGAAGAGAGGAAGAGGAGGAGCGGTGGCCAGGGCCGGCACAGCAACACCAG
Seq A exon
GCCTGTCGTGAGTTCACCACGCACGTCACCAACCTCCTCCAGGAGCAGAGCAGGATGAGGCCTGTCTCCCCTAAGGAGATTGAGCGCATGGTCGGCGCCATTCACGGCAAGTTCAGCGCCATCCAGATGCAGTTGAAGCAGAGCACCTGTGAGGCAGTGATGACCCTGCGTTCGCGGCTGCTCGATGCCAG
Seq C2 exon
GCGCAAGCGGCGGAATTTCAGCAAGCAGGCGACGGAAGTGCTGAATGAGTATTTTTACTCCCATCTGAACAACCCTTACCCCAGCGAAGAAGCCAAAGAAGAGCTGGCCAGGAAGGGCGGCCTCACCATCTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000105717-'15-14,'15-12,18-14=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.616 A=0.279 C2=0.239
Domain overlap (PFAM):

C1:
PF037928=PBC=FE(47.1=100)
A:
PF037928=PBC=PD(30.8=95.3),PF070286=DUF1319=PD(62.5=85.9),PF0004624=Homeobox=PU(0.1=0.0)
C2:
PF0004624=Homeobox=PU(75.0=97.8)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTAAGCATCCGTGGCATTCA
R:
TTCTTTGGCTTCTTCGCTGGG
Band lengths:
246-437
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains