Special

HsaEX6034601 @ hg19

Exon Skipping

Gene
Description
pre-B-cell leukemia homeobox 1 [Source:HGNC Symbol;Acc:8632]
Coordinates
chr1:164768936-164781386:+
Coord C1 exon
chr1:164768936-164769126
Coord A exon
chr1:164776779-164776914
Coord C2 exon
chr1:164781227-164781386
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-'17-22,'17-21,18-22=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=0.219 A=0.022 C2=0.333
Domain overlap (PFAM):

C1:
PF037928=PBC=PD(48.0=95.3),PF090686=EF-hand_2=PD(65.9=93.8),PF059039=Peptidase_C97=PD(60.3=73.4),PF070286=DUF1319=PD(60.7=79.7),PF040917=Sec15=PD(59.2=65.6)
A:
PF0157913=DUF19=FE(27.3=100),PF0004624=Homeobox=PU(91.8=97.8)
C2:
PF0004624=Homeobox=PD(21.7=24.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
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