HsaEX6024447 @ hg38
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69106028-69110940:-
Coord C1 exon
chr17:69110801-69110940
Coord A exon
chr17:69107696-69107812
Coord C2 exon
chr17:69106028-69106211
Length
117 bp
Sequences
Splice sites
3' ss Seq
TTCATATTTTTTTGCCTTAGATC
3' ss Score
9.85
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
Exon sequences
Seq C1 exon
TTTACATAGGAATGAAATATGTAACCCAGAACAAATAACATCCTTCATTACTCATCACATCCCCGATGCTAAATTAAAAACAGAAAACAAAGAAAAGCTTGTATATACTTTGCCACTGGAAAGGACAAATACATTTCCAG
Seq A exon
ATCTTTTCAGTGATCTGGATAAGTGTTCTGACCAGGGAGTGACAGGTTATGACATTTCCATGTCAACTCTAAATGAAGTCTTTATGAAACTGGAAGGACAGTCAACTATCGAACAAG
Seq C2 exon
ATTTCGAACAAGTGGAGATGATAAGAGACTCAGAAAGCCTCAATGAAATGGAGCTGGCTCACTCTTCCTTCTCTGAAATGCAGACAGCTGTGAGTGACATGGGCCTCTGGAGAATGCAAGTCTTTGCCATGGCACGGCTCCGTTTCTTAAAGTTAAAACGTCAAACTAAAGTGTTATTGACCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-'34-38,'34-35,37-38=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:
NO
A:
NO
C2:
PF126982=ABC2_membrane_3=PU(1.4=8.1)
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:
ACTCATCACATCCCCGATGCT
R:
TTAACTTTAAGAAACGGAGCCG
Band lengths:
247-364
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains