HsaEX6024494 @ hg38
Exon Skipping
Gene
ENSG00000154265 | ABCA5
Description
ATP binding cassette subfamily A member 5 [Source:HGNC Symbol;Acc:HGNC:35]
Coordinates
chr17:69287613-69290037:-
Coord C1 exon
chr17:69289862-69290037
Coord A exon
chr17:69289177-69289296
Coord C2 exon
chr17:69287613-69287751
Length
120 bp
Sequences
Splice sites
3' ss Seq
TTCATGCTTTACTTTTACAGGTG
3' ss Score
10.7
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
GGTTTGCATCTATATATGGACACAGAGTCTCAGAAATAGATGAAATGTTTGAAGCAAGAAAAATGATTGGCATTTGTCCACAGTTAGATATACACTTTGATGTTTTGACAGTAGAAGAAAATTTATCAATTTTGGCTTCAATCAAAGGGATACCAGCCAACAATATAATACAAGAA
Seq A exon
GTGCAGAAGGTTTTACTAGATTTAGACATGCAGACTATCAAAGATAACCAAGCTAAAAAATTAAGTGGTGGTCAAAAAAGAAAGCTGTCATTAGGAATTGCTGTTCTTGGGAACCCAAAG
Seq C2 exon
ATACTGCTGCTAGATGAACCAACAGCTGGAATGGACCCCTGTTCTCGACATATTGTATGGAATCTTTTAAAATACAGAAAAGCCAATCGGGTGACAGTGTTCAGTACTCATTTCATGGATGAAGCTGACATTCTTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154265-'36-48,'36-46,37-48=AN
Average complexity
A_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:
PF0000522=ABC_tran=FE(39.5=100)
A:
PF0000522=ABC_tran=FE(26.5=100)
C2:
PF0000522=ABC_tran=PD(5.4=17.0)
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:
TGATTGGCATTTGTCCACAGT
R:
TGCAAGAATGTCAGCTTCATCCA
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