HsaEX0000251 @ hg38
Exon Skipping
Gene
ENSG00000107331 | ABCA2
Description
ATP binding cassette subfamily A member 2 [Source:HGNC Symbol;Acc:HGNC:32]
Coordinates
chr9:137015675-137016471:-
Coord C1 exon
chr9:137016291-137016471
Coord A exon
chr9:137015962-137016174
Coord C2 exon
chr9:137015675-137015871
Length
213 bp
Sequences
Splice sites
3' ss Seq
GACCCCGCCCACCTACCCAGGTC
3' ss Score
6.11
5' ss Seq
CAAGTGGGT
5' ss Score
4.82
Exon sequences
Seq C1 exon
AGGAGACCCGTGGCATGGAGGAGGAGCCCACCCACCTGCCTCTGGTTGTCTGCGTGGACAAACTCACCAAGGTCTACAAGGACGACAAGAAGCTGGCCCTGAACAAGCTGAGCCTGAACCTCTACGAGAACCAGGTGGTCTCCTTCTTGGGCCACAACGGGGCGGGCAAGACCACCACCAT
Seq A exon
GTCCATCCTGACCGGCCTGTTCCCTCCAACGTCGGGTTCCGCCACCATCTACGGGCACGACATCCGCACGGAGATGGATGAGATCCGCAAGAACCTGGGCATGTGCCCGCAGCACAATGTGCTCTTTGACCGGCTCACGGTGGAGGAACACCTCTGGTTCTACTCACGGCTCAAGAGCATGGCTCAGGAGGAGATCCGCAGAGAGATGGACAA
Seq C2 exon
GATGATCGAGGACCTGGAGCTCTCCAACAAACGGCACTCACTGGTGCAGACATTGTCGGGTGGCATGAAGCGCAAGCTGTCCGTGGCCATCGCCTTCGTGGGCGGCTCTCGCGCCATCATCCTGGACGAGCCCACGGCGGGCGTGGACCCCTACGCGCGCCGCGCCATCTGGGACCTCATCCTGAAGTACAAGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107331-'43-49,'43-48,44-49
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.082 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(18.6=44.3)
A:
PF0000522=ABC_tran=FE(49.0=100)
C2:
PF0000522=ABC_tran=PD(31.7=68.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGAAGCTGGCCCTGAACAA
R:
TGGCTTGTACTTCAGGATGAGG
Band lengths:
292-505
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development