HsaEX6024439 @ hg38
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69123239-69128804:-
Coord C1 exon
chr17:69128619-69128804
Coord A exon
chr17:69124888-69125035
Coord C2 exon
chr17:69123239-69123407
Length
148 bp
Sequences
Splice sites
3' ss Seq
TTTTATTTTTTGAATCTTAGATT
3' ss Score
7.96
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GTAGCTTTGGTGTTCCTGATGAGTGTGCTGTTAAAGAAAGCTGTCCTCACCAATTTGGTTGTGTTTCTCCTTACCCTCTTTTGGGGATGTCTGGGATTCACTGTATTTTATGAACAACTTCCTTCATCTCTGGAGTGGATTTTGAATATTTGTAGCCCTTTTGCCTTTACTACTGGAATGATTCAG
Seq A exon
ATTATCAAACTGGATTATAACTTGAATGGTGTAATTTTTCCTGACCCTTCAGGAGACTCATATACAATGATAGCAACTTTTTCTATGTTGCTTTTGGATGGTCTCATCTACTTGCTATTGGCATTATACTTTGACAAAATTTTACCCT
Seq C2 exon
ATGGAGATGAGCGCCATTATTCTCCTTTATTTTTCTTGAATTCATCATCTTGTTTCCAACACCAAAGGACTAATGCTAAGGTTATTGAGAAAGAAATCGATGCTGAGCATCCCTCTGATGATTATTTTGAACCAGTAGCTCCTGAATTCCAAGGAAAAGAAGCCATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-'16-16,'16-13,20-16
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.035
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(15.7=100)
A:
PF126982=ABC2_membrane_3=PD(10.8=84.0)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGGATGTCTGGGATTCACT
R:
TGGAATTCAGGAGCTACTGGT
Band lengths:
256-404
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains