HsaEX0000271 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69261125-69264905:-
Coord C1 exon
chr17:69264735-69264905
Coord A exon
chr17:69261635-69261748
Coord C2 exon
chr17:69261125-69261259
Length
114 bp
Sequences
Splice sites
3' ss Seq
AACATATTTCTGATTTACAGGTT
3' ss Score
8.45
5' ss Seq
GTGGTAAGT
5' ss Score
10.36
Exon sequences
Seq C1 exon
ATCAAAGCTTATACTCAACTTAAACTTTCAGGTCTTTTGCCATCTGCATATTGGATTGGACAAGCTGTTGTTGATATCCCCTTATTTTTTATCATTCTTATTTTGATGCTAGGAAGCTTATTGGCATTTCATTATGGATTATATTTTTATACTGTAAAGTTCCTTGCTGTG
Seq A exon
GTTTTTTGCCTTATTGGTTATGTTCCATCAGTTATTCTGTTCACTTATATTGCTTCTTTCACCTTTAAGAAAATTTTAAATACCAAAGAATTTTGGTCATTTATCTATTCTGTG
Seq C2 exon
GCAGCGTTGGCTTGTATTGCAATCACTGAAATAACTTTCTTTATGGGATACACAATTGCAACTATTCTTCATTATGCCTTTTGTATCATCATTCCAATCTATCCACTTCTAGGTTGCCTGATTTCTTTCATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-'54-68,'54-67,55-68
Average complexity
S
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(14.9=100)
A:
PF126982=ABC2_membrane_3=FE(19.4=100)
C2:
PF126982=ABC2_membrane_3=FE(11.7=100)
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:
GCCATCTGCATATTGGATTGGAC
R:
TCAGGCAACCTAGAAGTGGAT
Band lengths:
254-368
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