HsaEX1001312 @ hg38
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69134639-69136250:-
Coord C1 exon
chr17:69136092-69136250
Coord A exon
chr17:69134843-69135197
Coord C2 exon
chr17:69134639-69134742
Length
355 bp
Sequences
Splice sites
3' ss Seq
TGCTTCCTTTTTCTATGTAGTTA
3' ss Score
7.23
5' ss Seq
CTGGTAGAG
5' ss Score
1.5
Exon sequences
Seq C1 exon
GAACAAGTGTCATTGGGGCACCAAATAAAACACACATGGACGAAATACTTCTGGAAAATTTACCATATGCTATGGGAATCATCTTTAATGAAACTTTCTCTTATAAGTTAATATTTTTCCAGGGATATAACAGTCCACTTTGGAAAGAAGATTTCTCAG
Seq A exon
TTAAAAGTCTACTGGTGGGCCAGCCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGCACGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAGCCTGTCTCTACTAAAAATACAAAAATTAGCTAGACAACGTGGCCTGTGCCTATAATCCCAGCTTTGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCCAAAAAAAAAAAGACAACCACAACAAAAACGAAACACCACCACCAAAAAAGTTTACTG
Seq C2 exon
CTCATTGCTGGGATGGATATGGTGAGTTTTCATGTACATTGACCAAATACTGGAATAGAGGATTTGTGGCTTTACAAACAGCTATTAATACTGCCATTATAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262_MULTIEX5-1/4=C1-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.003 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(13.6=100)
A:
NO
C2:
PF126982=ABC2_membrane_3=FE(8.7=100)
Main Inclusion Isoform:
ENST00000284425fB8364
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACAAGTGTCATTGGGGCAC
R:
AATGGCAGTATTAATAGCTGTTTGT
Band lengths:
257-612
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains