HsaEX0000279 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69261635-69270750:-
Coord C1 exon
chr17:69270613-69270750
Coord A exon
chr17:69264735-69264905
Coord C2 exon
chr17:69261635-69261748
Length
171 bp
Sequences
Splice sites
3' ss Seq
TTGTTTTTCATTTTTTTTAGATC
3' ss Score
11.35
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
GACTATGTTTTTGCAGCTGTTTTCAACAGTACTATGGTTTATTCTTTACCTATATTAGTGAATATCATTAGTAACTACTATCTTTATCATTTAAATGTGACTGAAACCATCCAGATCTGGAGTACCCCATTCTTTCAA
Seq A exon
ATCAAAGCTTATACTCAACTTAAACTTTCAGGTCTTTTGCCATCTGCATATTGGATTGGACAAGCTGTTGTTGATATCCCCTTATTTTTTATCATTCTTATTTTGATGCTAGGAAGCTTATTGGCATTTCATTATGGATTATATTTTTATACTGTAAAGTTCCTTGCTGTG
Seq C2 exon
GTTTTTTGCCTTATTGGTTATGTTCCATCAGTTATTCTGTTCACTTATATTGCTTCTTTCACCTTTAAGAAAATTTTAAATACCAAAGAATTTTGGTCATTTATCTATTCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265_MULTIEX3-2/2=C1-C2
Average complexity
C3*
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=FE(12.0=100)
A:
PF126982=ABC2_membrane_3=FE(14.9=100)
C2:
PF126982=ABC2_membrane_3=FE(19.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACTATGTTTTTGCAGCTGTTTTCA
R:
AGGTGAAAGAAGCAATATAAGTGAAC
Band lengths:
202-373
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