HsaEX0000228 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104809466-104812722:-
Coord C1 exon
chr9:104812574-104812722
Coord A exon
chr9:104810800-104810924
Coord C2 exon
chr9:104809466-104809564
Length
125 bp
Sequences
Splice sites
3' ss Seq
CCTCCACTGCCTGGGTAAAGATT
3' ss Score
1.45
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
AATCCAGAGAGACAGACTTGCTCAGTGGGATGGATGGCAAAGGGTCCTACCAGGTGAAAGGCTGGAAACTTACACAGCAACAGTTTGTGGCCCTTTTGTGGAAGAGACTGCTAATTGCCAGACGGAGTCGGAAAGGATTTTTTGCTCAG
Seq A exon
ATTGTCTTGCCAGCTGTGTTTGTCTGCATTGCCCTTGTGTTCAGCCTGATCGTGCCACCCTTTGGCAAGTACCCCAGCCTGGAACTTCAGCCCTGGATGTACAACGAACAGTACACATTTGTCAG
Seq C2 exon
CAATGATGCTCCTGAGGACACGGGAACCCTGGAACTCTTAAACGCCCTCACCAAAGACCCTGGCTTCGGGACCCGCTGTATGGAAGGAAACCCAATCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029_CASSETTE4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.140 A=0.000 C2=0.206
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PU(1.1=12.0)
A:
PF126982=ABC2_membrane_3=FE(13.1=100)
C2:
PF126982=ABC2_membrane_3=FE(10.5=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:
TCCAGAGAGACAGACTTGCTCA
R:
TTGGGTTTCCTTCCATACAGCG
Band lengths:
242-367
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