HsaEX0000274 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69250472-69253667:-
Coord C1 exon
chr17:69253573-69253667
Coord A exon
chr17:69251747-69251866
Coord C2 exon
chr17:69250472-69250621
Length
120 bp
Sequences
Splice sites
3' ss Seq
GTTTTATTTATGTTTTATAGGCG
3' ss Score
8.33
5' ss Seq
AAGGTTGAT
5' ss Score
4.19
Exon sequences
Seq C1 exon
TTGTGTTTTGCTCTAAGTATGCTAGGGAATCCTCAGATTACTTTGCTAGATGAACCATCTACAGGTATGGATCCCAAAGCCAAACAGCACATGTG
Seq A exon
GCGAGCAATTCGAACTGCATTTAAAAACAGAAAGCGGGCTGCTATTCTGACCACTCACTATATGGAGGAGGCAGAGGCTGTCTGTGATCGAGTAGCTATCATGGTGTCTGGGCAGTTAAG
Seq C2 exon
ATGTATCGGAACAGTACAACATCTAAAGAGTAAATTTGGAAAAGGCTACTTTTTGGAAATTAAATTGAAGGACTGGATAGAAAACCTAGAAGTAGACCGCCTTCAAAGAGAAATTCAGTATATTTTCCCAAATGCAAGCCGTCAGGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.188 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PD(13.7=62.5)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGTTTTGCTCTAAGTATGCTAGGG
R:
TTCCTGACGGCTTGCATTTGG
Band lengths:
242-362
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