HsaEX6024498 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69277641-69286037:-
Coord C1 exon
chr17:69285898-69286037
Coord A exon
chr17:69283953-69284072
Coord C2 exon
chr17:69277641-69277842
Length
120 bp
Sequences
Splice sites
3' ss Seq
CTTTCATTTTTTTCTTTTAGGTT
3' ss Score
13.49
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
CATGTACATAGACAAATATTGTGCCACAGAATCTCTTTCTTCACTGGTTAAACAACATATACCTGGAGCTACTTTATTACAACAGAATGACCAACAACTTGTGTATAGCTTGCCTTTCAAGGACATGGACAAATTTTCAG
Seq A exon
GTTTGTTTTCTGCCCTAGACAGTCATTCAAATTTGGGTGTCATTTCTTATGGTGTTTCCATGACGACTTTGGAAGACGTATTTTTAAAGCTAGAAGTTGAAGCAGAAATTGACCAAGCAG
Seq C2 exon
ATTATAGTGTATTTACTCAGCAGCCACTGGAGGAAGAAATGGATTCAAAATCTTTTGATGAAATGGAACAGAGCTTACTTATTCTTTCTGAAACCAAGGCTGCTCTAGTGAGCACCATGAGCCTTTGGAAACAACAGATGTATACAATAGCAAAGTTTCATTTCTTTACCTTGAAACGTGAAAGTAAATCAGTGAGATCAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-'41-55,'41-54,43-55
Average complexity
C1
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:
NO
A:
NO
C2:
PF126982=ABC2_membrane_3=PU(3.7=20.6)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGTGCCACAGAATCTCTTTCTTCA
R:
TTCCAAAGGCTCATGGTGCTC
Band lengths:
251-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains