HsaEX0000275 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69283953-69286037:-
Coord C1 exon
chr17:69285898-69286037
Coord A exon
chr17:69285388-69285420
Coord C2 exon
chr17:69283953-69284072
Length
33 bp
Sequences
Splice sites
3' ss Seq
AGTCTCCTTCCTCTGTTTAGGAA
3' ss Score
9.09
5' ss Seq
GATGTAAGT
5' ss Score
9.11
Exon sequences
Seq C1 exon
CATGTACATAGACAAATATTGTGCCACAGAATCTCTTTCTTCACTGGTTAAACAACATATACCTGGAGCTACTTTATTACAACAGAATGACCAACAACTTGTGTATAGCTTGCCTTTCAAGGACATGGACAAATTTTCAG
Seq A exon
GAATTGCTTGATAGACAAAAGGATGTTATTGAT
Seq C2 exon
GTTTGTTTTCTGCCCTAGACAGTCATTCAAATTTGGGTGTCATTTCTTATGGTGTTTCCATGACGACTTTGGAAGACGTATTTTTAAAGCTAGAAGTTGAAGCAGAAATTGACCAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265_CASSETTE5
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:
NO
A:
NO
C2:
NO


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:
CCAACAACTTGTGTATAGCTTGCC
R:
CGTCTTCCAAAGTCGTCATGGA
Band lengths:
128-161
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