HsaEX0000267 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69301139-69308368:-
Coord C1 exon
chr17:69308280-69308368
Coord A exon
chr17:69302718-69302906
Coord C2 exon
chr17:69301139-69301286
Length
189 bp
Sequences
Splice sites
3' ss Seq
TTAATATTTGTATTTTATAGGTA
3' ss Score
10.4
5' ss Seq
CAGGTAGGT
5' ss Score
10.28
Exon sequences
Seq C1 exon
CTGGCTGTTCAAAATCATGTGAGGCTGCTCAGTACTGGTCCTCAGGTTTCACAGTTTTACAAGCATCCATAGATGCTGCCATTATACAG
Seq A exon
GTATTTTTTGCTTTAATGCTGACACCTCTTTTTAAAAAATCAAAACATGTGGGAATAGTTGAATTTTTTGTTACTGTGGCTTTTGGATTTATTGGCCTTATGATAATCCTCATAGAAAGTTTTCCCAAATCGTTAGTGTGGCTTTTCAGTCCTTTCTGTCACTGTACTTTTGTGATTGGTATTGCACAG
Seq C2 exon
GTCATGCATTTAGAAGATTTTAATGAAGGTGCTTCATTTTCAAATTTGACTGCAGGCCCATATCCTCTAATTATTACAATTATCATGCTCACACTTAATAGTATATTCTATGTCCTCTTGGCTGTCTATCTTGATCAAGTCATTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265_MULTIEX2-3/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
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(16.0=100)
C2:
PF126982=ABC2_membrane_3=PD(10.9=84.0)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCTGTTCAAAATCATGTGAGGC
R:
TGGAATGACTTGATCAAGATAGACA
Band lengths:
234-423
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