HsaEX6062290 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104802054-104804720:-
Coord C1 exon
chr9:104804626-104804720
Coord A exon
chr9:104803284-104803316
Coord C2 exon
chr9:104802054-104802159
Length
33 bp
Sequences
Splice sites
3' ss Seq
TTGTTTCTTTGTCTCTGCAGCTT
3' ss Score
11.24
5' ss Seq
TAGGTAAGT
5' ss Score
9.66
Exon sequences
Seq C1 exon
AGAAAACAAAACACTGCAGATATCCTTCAGGACCTGACAGGAAGAAACATTTCGGATTATCTGGTGAAGACGTATGTGCAGATCATAGCCAAAAG
Seq A exon
CTTAAAGAACAAGATCTGGGTGAATGAGTTTAG
Seq C2 exon
GTATGGCGGCTTTTCCCTGGGTGTCAGTAATACTCAAGCACTTCCTCCGAGTCAAGAAGTTAATGATGCCATCAAACAAATGAAGAAACACCTAAAGCTGGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-'76-75,'76-73,77-75=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.281 A=0.000 C2=0.174
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(5.9=100)
A:
PF126982=ABC2_membrane_3=FE(2.1=100)
C2:
PF126982=ABC2_membrane_3=FE(11.2=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:
TCCTTCAGGACCTGACAGGAA
R:
TGACTCGGAGGAAGTGCTTGA
Band lengths:
127-160
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains