HsaEX0000269 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69287613-69289296:-
Coord C1 exon
chr17:69289177-69289296
Coord A exon
chr17:69288515-69288698
Coord C2 exon
chr17:69287613-69287751
Length
184 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTAATTTGTAGAGA
3' ss Score
9.23
5' ss Seq
ATGGTAGCT
5' ss Score
2.12
Exon sequences
Seq C1 exon
GTGCAGAAGGTTTTACTAGATTTAGACATGCAGACTATCAAAGATAACCAAGCTAAAAAATTAAGTGGTGGTCAAAAAAGAAAGCTGTCATTAGGAATTGCTGTTCTTGGGAACCCAAAG
Seq A exon
AGACGAGACCTTGCTATGTTGCCCAGGCTGGTCTTGAACTGGCCTCAAGCGATCCTCCCGCCTTTGCCTTCCAAAGTGTTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCCATGTTTTATTTCTTTAAAAAATGATCTGAAGAAAATGTGGCCAAAAAATAACATTGCTGAATTGGAATG
Seq C2 exon
ATACTGCTGCTAGATGAACCAACAGCTGGAATGGACCCCTGTTCTCGACATATTGTATGGAATCTTTTAAAATACAGAAAAGCCAATCGGGTGACAGTGTTCAGTACTCATTTCATGGATGAAGCTGACATTCTTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265_CASSETTE6
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:
PF0000522=ABC_tran=FE(26.5=100)
A:
PF0000522=ABC_tran=PD(0.1=0.0)
C2:
PF0000522=ABC_tran=PD(5.4=17.0)
Main Inclusion Isoform:
ENST00000392676fB24
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
ACTAGATTTAGACATGCAGACTATCA
R:
TGCAAGAATGTCAGCTTCATCCA
Band lengths:
244-428
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