HsaEX6062295 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104796053-104798598:-
Coord C1 exon
chr9:104798421-104798598
Coord A exon
chr9:104796309-104796424
Coord C2 exon
chr9:104796053-104796197
Length
116 bp
Sequences
Splice sites
3' ss Seq
GTCTTTGTTTTCACTTTTAGTGC
3' ss Score
11.05
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
GATGACCACATCAGTGGATGTCCTTGTGTCCATCTGTGTCATCTTTGCAATGTCCTTCGTCCCAGCCAGCTTTGTCGTATTCCTGATCCAGGAGCGGGTCAGCAAAGCAAAACACCTGCAGTTCATCAGTGGAGTGAAGCCTGTCATCTACTGGCTCTCTAATTTTGTCTGGGATATG
Seq A exon
TGCAATTACGTTGTCCCTGCCACACTGGTCATTATCATCTTCATCTGCTTCCAGCAGAAGTCCTATGTGTCCTCCACCAATCTGCCTGTGCTAGCCCTTCTACTTTTGCTGTATGG
Seq C2 exon
GTGGTCAATCACACCTCTCATGTACCCAGCCTCCTTTGTGTTCAAGATCCCCAGCACAGCCTATGTGGTGCTCACCAGCGTGAACCTCTTCATTGGCATTAATGGCAGCGTGGCCACCTTTGTGCTGGAGCTGTTCACCGACAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-'83-86,'83-84,84-86=AN
Average complexity
A_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(11.2=100)
A:
PF126982=ABC2_membrane_3=FE(7.2=100)
C2:
PF126982=ABC2_membrane_3=FE(9.1=100)
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:
CCCAGCCAGCTTTGTCGTATT
R:
TGAACAGCTCCAGCACAAAGG
Band lengths:
255-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains