HsaEX6024490 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69297191-69302906:-
Coord C1 exon
chr17:69302718-69302906
Coord A exon
chr17:69301139-69301286
Coord C2 exon
chr17:69297191-69297359
Length
148 bp
Sequences
Splice sites
3' ss Seq
TTAGTGTTTGTATTTTTCAGGTC
3' ss Score
10.74
5' ss Seq
CAGGTATGC
5' ss Score
9.37
Exon sequences
Seq C1 exon
GTATTTTTTGCTTTAATGCTGACACCTCTTTTTAAAAAATCAAAACATGTGGGAATAGTTGAATTTTTTGTTACTGTGGCTTTTGGATTTATTGGCCTTATGATAATCCTCATAGAAAGTTTTCCCAAATCGTTAGTGTGGCTTTTCAGTCCTTTCTGTCACTGTACTTTTGTGATTGGTATTGCACAG
Seq A exon
GTCATGCATTTAGAAGATTTTAATGAAGGTGCTTCATTTTCAAATTTGACTGCAGGCCCATATCCTCTAATTATTACAATTATCATGCTCACACTTAATAGTATATTCTATGTCCTCTTGGCTGTCTATCTTGATCAAGTCATTCCAG
Seq C2 exon
GGGAATTTGGCTTACGGAGATCATCTTTATATTTTCTGAAGCCTTCATATTGGTCAAAGAGCAAAAGAAATTATGAGGAGTTATCAGAGGGCAATGTTAATGGAAATATTAGTTTTAGTGAAATTATTGAGCCAGTTTCTTCAGAATTTGTAGGAAAAGAAGCCATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-'27-39,'27-35,28-39
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PU(48.2=93.2)
A:
PF126982=ABC2_membrane_3=PD(10.9=84.0)
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:
TGCTTTAATGCTGACACCTCT
R:
TGCTCTTTGACCAATATGAAGGCT
Band lengths:
244-392
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains