Special

HsaEX1027165 @ hg38

Exon Skipping

Gene
Description
PBX homeobox 1 [Source:HGNC Symbol;Acc:HGNC:8632]
Coordinates
chr1:164563238-164799889:+
Coord C1 exon
chr1:164563238-164563311
Coord A exon
chr1:164792494-164792738
Coord C2 exon
chr1:164799699-164799889
Length
245 bp
Sequences
Splice sites
3' ss Seq
TTCCCTGTCTTTTTCTGTAGTTT
3' ss Score
10.1
5' ss Seq
CAGGTAACC
5' ss Score
8.66
Exon sequences
Seq C1 exon
AAAACATGCTTTAAACTGCCACAGAATGAAGCCTGCCTTGTTTAATGTGTTGTGTGAAATCAAAGAAAAAACAG
Seq A exon
TTTTGAGTATCCGAGGAGCCCAGGAGGAGGAACCCACAGACCCCCAGCTGATGCGGCTGGACAACATGCTGTTAGCGGAAGGCGTGGCGGGGCCTGAGAAGGGCGGAGGGTCGGCGGCAGCGGCGGCAGCGGCGGCGGCTTCTGGAGGGGCAGGTTCAGACAACTCAGTGGAGCATTCAGATTACAGAGCCAAACTCTCACAGATCAGACAAATCTACCATACGGAGCTGGAGAAATACGAGCAG
Seq C2 exon
GCCTGCAACGAGTTCACCACCCACGTGATGAATCTCCTGCGAGAGCAAAGCCGGACCAGGCCCATCTCCCCAAAGGAGATTGAGCGGATGGTCAGCATCATCCACCGCAAGTTCAGCTCCATCCAGATGCAGCTCAAGCAGAGCACGTGCGAGGCGGTGATGATCCTGCGTTCCCGATTTCTGGATGCGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185630-'7-37,'7-36,35-37
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.196 A=0.560 C2=0.231
Domain overlap (PFAM):

C1:
PF037928=PBC=PU(10.1=94.1)
A:
PF037928=PBC=PU(50.4=98.5),PF070286=DUF1319=PU(36.9=47.7),PF040917=Sec15=PU(38.0=41.5)
C2:
PF037928=PBC=PD(48.0=95.3),PF070286=DUF1319=PD(60.7=79.7),PF040917=Sec15=PD(59.2=65.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Primers PCR
Suggestions for RT-PCR validation
F:
ACATGCTTTAAACTGCCACAGA
R:
GCGCATCCAGAAATCGGGAA
Band lengths:
261-506
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains