Special

HsaEX6094146 @ hg38

Exon Skipping

Gene
Description
PBX homeobox 4 [Source:HGNC Symbol;Acc:HGNC:13403]
Coordinates
chr19:19564933-19570299:-
Coord C1 exon
chr19:19570109-19570299
Coord A exon
chr19:19569449-19569584
Coord C2 exon
chr19:19564933-19565089
Length
136 bp
Sequences
Splice sites
3' ss Seq
GAAGGCGGCTGTTTTTGCAGGCG
3' ss Score
4.94
5' ss Seq
CAGGTGACG
5' ss Score
7.66
Exon sequences
Seq C1 exon
GCCTGTCGTGAGTTCACCACGCACGTCACCAACCTCCTCCAGGAGCAGAGCAGGATGAGGCCTGTCTCCCCTAAGGAGATTGAGCGCATGGTCGGCGCCATTCACGGCAAGTTCAGCGCCATCCAGATGCAGTTGAAGCAGAGCACCTGTGAGGCAGTGATGACCCTGCGTTCGCGGCTGCTCGATGCCAG
Seq A exon
GCGCAAGCGGCGGAATTTCAGCAAGCAGGCGACGGAAGTGCTGAATGAGTATTTTTACTCCCATCTGAACAACCCTTACCCCAGCGAAGAAGCCAAAGAAGAGCTGGCCAGGAAGGGCGGCCTCACCATCTCCCAG
Seq C2 exon
GTCTCTAACTGGTTTGGCAACAAAAGAATCCGGTATAAAAAGAACATGGGGAAGTTTCAAGAAGAGGCTACCATTTACACGGGTAAAACGGCTGTGGATACCACGGAAGTTGGGGTCCCAGGGAACCACGCCAGCTGCCTGTCAACACCTAGCTCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000105717-'18-15,'18-14,20-15
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.279 A=0.239 C2=0.528
Domain overlap (PFAM):

C1:
PF037928=PBC=PD(30.8=95.3),PF070286=DUF1319=PD(62.5=85.9),PF0004624=Homeobox=PU(0.1=0.0)
A:
PF0004624=Homeobox=PU(75.0=97.8)
C2:
PF0004624=Homeobox=PD(21.7=24.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Cow
(bosTau6)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGAGGCCTGTCTCCCCTAAG
R:
GACCCCAACTTCCGTGGTATC
Band lengths:
254-390
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains