Special

HsaEX0027174 @ hg38

Exon Skipping

Gene
Description
gastrulation brain homeobox 2 [Source:HGNC Symbol;Acc:HGNC:4186]
Coordinates
chr2:236165236-236168369:-
Coord C1 exon
chr2:236167449-236168369
Coord A exon
chr2:236167138-236167174
Coord C2 exon
chr2:236165236-236166437
Length
37 bp
Sequences
Splice sites
3' ss Seq
TGACGATGCGTTTGGCCGAGGCC
3' ss Score
-2.78
5' ss Seq
CGGGTAGGT
5' ss Score
8.53
Exon sequences
Seq C1 exon
GCTGATGATGATGCAGCGCCCGCTGGGGAGTAGCACCGCCTTCAGCATAGACTCGCTGATCGGCAGCCCGCCGCAGCCCAGCCCCGGCCATTTCGTCTACACCGGCTACCCCATGTTCATGCCCTACCGGCCGGTAGTGCTGCCGCCGCCGCCGCCGCCGCCGCCCGCGCTGCCCCAGGCCGCGCTGCAGCCAGCGCTGCCGCCCGCACACCCTCACCACCAGATCCCCAGCCTGCCCACAGGCTTCTGCTCCAGCCTGGCGCAGGGCATGGCGCTCACCTCTACGCTCATGGCCACGCTCCCCGGCGGCTTCTCCGCGTCGCCCCAGCACCAGGAGGCGGCAGCGGCCCGCAAGTTCGCGCCGCAGCCGCTGCCCGGCGGCGGTAACTTCGACAAGGCGGAGGCGCTGCAGGCTGACGCGGAGGACGGCAAAGGCTTCCTGGCCAAAGAGGGCTCGCTGCTCGCCTTCTCCGCGGCCGAGACGGTGCAGGCTTCGCTCG
Seq A exon
GCCGCCTCTGCCGCTCCGCGGTGACCTGGGGTTCCGG
Seq C2 exon
TCGGGGCTGTCCGAGGGCAAGGGAAAGACGAGTCAAAGGTGGAAGACGACCCGAAGGGCAAGGAGGAGAGCTTCTCGCTGGAGAGCGATGTGGACTACAGCTCGGATGACAATCTGACTGGCCAGGCAGCTCACAAGGAGGAAGACCCGGGCCACGCGCTGGAGGAGACCCCGCCGAGCAGCGGCGCCGCGGGCAGCACCACGTCTACGGGCAAGAACCGGCGGCGGCGGACTGCCTTCACCAGCGAGCAGCTGCTGGAGCTAGAGAAGGAGTTCCACTGCAAAAAGTACCTCTCCTTGACCGAGCGCTCGCAGATCGCCCACGCCCTCAAACTCAGCGAGGTGCAGGTGAAAATCTGGTTCCAGAACCGACGGGCCAAGTGGAAACGGGTGAAGGCAGGCAATGCCAATTCCAAGACAGGGGAGCCCTCCCGGAACCCTAAGATCGTCGTCCCCATCCCTGTCCACGTCAGCAGGTTCGCTATCAGAAGTCAGCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168505_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.513 A=0.000 C2=0.642
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0004624=Homeobox=WD(100=32.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTCCTGGCCAAAGAGGG
R:
GGGTCGTCTTCCACCTTTGAC
Band lengths:
118-155
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development