HsaEX0000277 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69304669-69308368:-
Coord C1 exon
chr17:69308280-69308368
Coord A exon
chr17:69306725-69306954
Coord C2 exon
chr17:69304669-69304810
Length
230 bp
Sequences
Splice sites
3' ss Seq
TTTACATTTTCTAATTATAGTTG
3' ss Score
6.44
5' ss Seq
TTGGTATGT
5' ss Score
7.12
Exon sequences
Seq C1 exon
CTGGCTGTTCAAAATCATGTGAGGCTGCTCAGTACTGGTCCTCAGGTTTCACAGTTTTACAAGCATCCATAGATGCTGCCATTATACAG
Seq A exon
TTGAAGACCAATGTTTCTCTTTGGAAGGAGCTGGAGTCAACTAAAGCTGTTATTATGGGAGAAACTGCTGTTGTAGAAATAGATACCTTTCCCCGAGGAGTAATTTTAATATACCTAGTTATAGCATTTTCACCTTTTGGATACTTTTTGGCAATTCATATCGTAGCAGAAAAAGAAAAAAAAATAAAAGAATTTTTAAAGATAATGGGACTTCATGATACTGCCTTTTG
Seq C2 exon
GCTTTCCTGGGTTCTTCTATATACAAGTTTAATTTTTCTTATGTCCCTTCTTATGGCAGTCATTGCGACAGCTTCTTTGTTATTTCCTCAAAGTAGCAGCATTGTGATATTTCTGCTTTTTTTCCTTTATGGATTATCATCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265_MULTIEX2-1/3=C1-2
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(14.9=74.2)
A:
PF126982=ABC2_membrane_3=FE(19.6=100)
C2:
PF126982=ABC2_membrane_3=FE(12.1=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGTTCAAAATCATGTGAGGC
R:
AGCAGAAATATCACAATGCTGCT
Band lengths:
204-434
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development