HsaEX0000290 @ hg38
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69133641-69136250:-
Coord C1 exon
chr17:69136092-69136250
Coord A exon
chr17:69134639-69134742
Coord C2 exon
chr17:69133641-69133867
Length
104 bp
Sequences
Splice sites
3' ss Seq
GCTTTTCTTTGTGCTTACAGCTC
3' ss Score
9.48
5' ss Seq
GAAGTAAGT
5' ss Score
9.82
Exon sequences
Seq C1 exon
GAACAAGTGTCATTGGGGCACCAAATAAAACACACATGGACGAAATACTTCTGGAAAATTTACCATATGCTATGGGAATCATCTTTAATGAAACTTTCTCTTATAAGTTAATATTTTTCCAGGGATATAACAGTCCACTTTGGAAAGAAGATTTCTCAG
Seq A exon
CTCATTGCTGGGATGGATATGGTGAGTTTTCATGTACATTGACCAAATACTGGAATAGAGGATTTGTGGCTTTACAAACAGCTATTAATACTGCCATTATAGAA
Seq C2 exon
ATCACAACCAATCACCCTGTGATGGAGGAGTTGATGTCAGTTACTGCTATAACTATGAAGACATTACCTTTCATAACTAAAAATCTTCTTCACAATGAGATGTTTATTTTATTCTTCTTGCTTCATTTCTCCCCACTTGTATATTTTATATCACTCAATGTAACAAAAGAGAGAAAAAAGTCTAAGAATTTGATGAAAATGATGGGTCTCCAAGATTCAGCATTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262_MULTIEX5-2/4=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
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:
PF126982=ABC2_membrane_3=FE(8.7=100)
C2:
PF126982=ABC2_membrane_3=FE(19.3=100)
Main Skipping Isoform:
ENST00000284425fB8364
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCACTTTGGAAAGAAGATTTCTCA
R:
GCTGAATCTTGGAGACCCATCA
Band lengths:
247-351
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development