HsaEX0000292 @ hg38
Exon Skipping
Gene
ENSG00000154262 | ABCA6
Description
ATP binding cassette subfamily A member 6 [Source:HGNC Symbol;Acc:HGNC:36]
Coordinates
chr17:69128619-69133867:-
Coord C1 exon
chr17:69133641-69133867
Coord A exon
chr17:69129610-69129751
Coord C2 exon
chr17:69128619-69128804
Length
142 bp
Sequences
Splice sites
3' ss Seq
AACTTTTTGTCTTTATTTAGGCT
3' ss Score
9.06
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ATCACAACCAATCACCCTGTGATGGAGGAGTTGATGTCAGTTACTGCTATAACTATGAAGACATTACCTTTCATAACTAAAAATCTTCTTCACAATGAGATGTTTATTTTATTCTTCTTGCTTCATTTCTCCCCACTTGTATATTTTATATCACTCAATGTAACAAAAGAGAGAAAAAAGTCTAAGAATTTGATGAAAATGATGGGTCTCCAAGATTCAGCATTCTG
Seq A exon
GCTCTCCTGGGGTCTAATCTATGCTGGCTTCATCTTTATTATTTCCATATTCGTTACAATTATCATAACATTCACCCAAATTATAGTCATGACTGGCTTCATGGTCATATTTATACTCTTTTTTTTATATGGCTTATCTTTG
Seq C2 exon
GTAGCTTTGGTGTTCCTGATGAGTGTGCTGTTAAAGAAAGCTGTCCTCACCAATTTGGTTGTGTTTCTCCTTACCCTCTTTTGGGGATGTCTGGGATTCACTGTATTTTATGAACAACTTCCTTCATCTCTGGAGTGGATTTTGAATATTTGTAGCCCTTTTGCCTTTACTACTGGAATGATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262_MULTIEX5-4/4=3-C2
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=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(19.3=100)
A:
PF126982=ABC2_membrane_3=FE(12.1=100)
C2:
PF126982=ABC2_membrane_3=FE(15.7=100)
Main Skipping Isoform:
ENST00000284425fB8360
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:
ACCCTGTGATGGAGGAGTTGA
R:
GCACACTCATCAGGAACACCA
Band lengths:
242-384
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