HsaEX6024491 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69294655-69301286:-
Coord C1 exon
chr17:69301139-69301286
Coord A exon
chr17:69297191-69297359
Coord C2 exon
chr17:69294655-69294713
Length
169 bp
Sequences
Splice sites
3' ss Seq
TTTTAATGTTTATTTTTCAGGGG
3' ss Score
10.35
5' ss Seq
AAGGTATGG
5' ss Score
9.26
Exon sequences
Seq C1 exon
GTCATGCATTTAGAAGATTTTAATGAAGGTGCTTCATTTTCAAATTTGACTGCAGGCCCATATCCTCTAATTATTACAATTATCATGCTCACACTTAATAGTATATTCTATGTCCTCTTGGCTGTCTATCTTGATCAAGTCATTCCAG
Seq A exon
GGGAATTTGGCTTACGGAGATCATCTTTATATTTTCTGAAGCCTTCATATTGGTCAAAGAGCAAAAGAAATTATGAGGAGTTATCAGAGGGCAATGTTAATGGAAATATTAGTTTTAGTGAAATTATTGAGCCAGTTTCTTCAGAATTTGTAGGAAAAGAAGCCATAAG
Seq C2 exon
AATTAGTGGTATTCAGAAGACATACAGAAAGAAGGGTGAAAATGTGGAGGCTTTGAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-'28-43,'28-39,31-43
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=PD(10.9=84.0)
A:
NO
C2:
PF0000522=ABC_tran=PU(1.4=9.5)
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:
GGTGCTTCATTTTCAAATTTGACTGC
R:
CTCAAAGCCTCCACATTTTCACC
Band lengths:
178-347
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains