HsaEX6024440 @ hg38
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69117898-69125035:-
Coord C1 exon
chr17:69124888-69125035
Coord A exon
chr17:69123239-69123407
Coord C2 exon
chr17:69117898-69117956
Length
169 bp
Sequences
Splice sites
3' ss Seq
GTTGCCTCTTGGTTAATTAGATG
3' ss Score
4.44
5' ss Seq
CAGGTAATC
5' ss Score
6.99
Exon sequences
Seq C1 exon
ATTATCAAACTGGATTATAACTTGAATGGTGTAATTTTTCCTGACCCTTCAGGAGACTCATATACAATGATAGCAACTTTTTCTATGTTGCTTTTGGATGGTCTCATCTACTTGCTATTGGCATTATACTTTGACAAAATTTTACCCT
Seq A exon
ATGGAGATGAGCGCCATTATTCTCCTTTATTTTTCTTGAATTCATCATCTTGTTTCCAACACCAAAGGACTAATGCTAAGGTTATTGAGAAAGAAATCGATGCTGAGCATCCCTCTGATGATTATTTTGAACCAGTAGCTCCTGAATTCCAAGGAAAAGAAGCCATCAG
Seq C2 exon
AATCAGAAATGTTAAGAAGGAATATAAAGGAAAATCTGGAAAAGTGGAAGCATTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-'20-19,'20-16,22-19=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.035 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(10.8=84.0)
A:
NO
C2:
PF0000522=ABC_tran=PU(1.4=9.5)
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:
TCAAACTGGATTATAACTTGAATGGT
R:
TTTCAATGCTTCCACTTTTCCAGA
Band lengths:
202-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains