HsaEX6024509 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69251747-69253869:-
Coord C1 exon
chr17:69253794-69253869
Coord A exon
chr17:69253573-69253667
Coord C2 exon
chr17:69251747-69251866
Length
95 bp
Sequences
Splice sites
3' ss Seq
ATCTTTTTCTTTCCATGTAGTTG
3' ss Score
8.53
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
AATAACACATGCACTTGATTTAAAAGAACATCTTCAGAAGACTGTAAAGAAACTACCTGCAGGAATCAAACGAAAG
Seq A exon
TTGTGTTTTGCTCTAAGTATGCTAGGGAATCCTCAGATTACTTTGCTAGATGAACCATCTACAGGTATGGATCCCAAAGCCAAACAGCACATGTG
Seq C2 exon
GCGAGCAATTCGAACTGCATTTAAAAACAGAAAGCGGGCTGCTATTCTGACCACTCACTATATGGAGGAGGCAGAGGCTGTCTGTGATCGAGTAGCTATCATGGTGTCTGGGCAGTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-'66-85,'66-80,68-85
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.188 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(17.1=100)
A:
PF0000522=ABC_tran=PD(13.7=62.5)
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:
ACACATGCACTTGATTTAAAAGAACA
R:
GCTACTCGATCACAGACAGCC
Band lengths:
168-263
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains