HsaEX0000272 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69309262-69313296:-
Coord C1 exon
chr17:69313092-69313296
Coord A exon
chr17:69310765-69311026
Coord C2 exon
chr17:69309262-69309423
Length
262 bp
Sequences
Splice sites
3' ss Seq
AATTTTTGTATTTTTTGTAGAGA
3' ss Score
6.53
5' ss Seq
GACGTTAAG
5' ss Score
-17
Exon sequences
Seq C1 exon
GAAATTCTTTTTCCACTATTTTTTTTATTTTGGTTAATATTAATTAGCATGATGCATCCAAATAAGAAATATGAAGAAGTGCCTAATATAGAACTCAATCCTATGGACAAGTTTACTCTTTCTAATCTAATTCTTGGATATACTCCAGTGACTAATATTACAAGCAGCATCATGCAGAAAGTGTCTACTGATCATCTACCTGATG
Seq A exon
AGACAGGGTTTCGCCATGCTACCTAGGCTGGTCTCAAGCAATCTACTCCTGGACTCAAGCAATCTACCTGCCTCCACCTTCCAAAGTGCTGGCATTATAGGTGTGAGGCACCACATCCAGCCTACAAAGCGTTTTGATGTTTGTTACTTCACTTGTTCTTCACAACAACCCAGTGTCATCAGCTAGGCATTGTAGATGAGGACACTAAAGTCTGAAGAGTTCAAATCGCCTGTCTGTGCTCACACAGTTAATACATGAAGAC
Seq C2 exon
TCATAATTACTGAAGAATATACAAATGAAAAAGAAATGTTAACATCCAGTCTCTCTAAGCCGAGCAACTTTGTAGGTGTGGTTTTCAAAGACTCCATGTCCTATGAACTTCGTTTTTTTCCTGATATGATTCCAGTATCTTCTATTTATATGGATTCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265_CASSETTE8
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(17.6=100)
A:
NO
C2:
PF126982=ABC2_membrane_3=FE(14.0=100)
Main Inclusion Isoform:
ENST00000392676fB25
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATGATGCATCCAAATAAGAAATAT
R:
AGAAGATACTGGAATCATATCAGGAA
Band lengths:
302-564
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development