Special

HsaEX0032448 @ hg38

Exon Skipping

Gene
Description
integrin subunit beta 3 [Source:HGNC Symbol;Acc:HGNC:6156]
Coordinates
chr17:47274419-47284695:+
Coord C1 exon
chr17:47274419-47274504
Coord A exon
chr17:47283354-47283549
Coord C2 exon
chr17:47284443-47284695
Length
196 bp
Sequences
Splice sites
3' ss Seq
TTTGGGCTCCTGTCTTACAGGCC
3' ss Score
9.92
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
Exon sequences
Seq C1 exon
GGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGATGAG
Seq A exon
GCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAG
Seq C2 exon
ATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000259207_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.242 C2=0.000
Domain overlap (PFAM):

C1:
PF0036213=Integrin_beta=PU(4.0=58.6)
A:
PF0036213=Integrin_beta=FE(15.3=100)
C2:
PF0036213=Integrin_beta=FE(19.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CAACATCTGTACCACGCGAGG
R:
CGCAGGTTACTGGTGAGCTTT
Band lengths:
248-444
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