HsaEX6062282 @ hg38
Exon Skipping
Gene
ENSG00000165029 | ABCA1
Description
ATP binding cassette subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:29]
Coordinates
chr9:104819927-104822667:-
Coord C1 exon
chr9:104822496-104822667
Coord A exon
chr9:104821375-104821506
Coord C2 exon
chr9:104819927-104820069
Length
132 bp
Sequences
Splice sites
3' ss Seq
TTCTAAATTTTTGTCCTCAGGTC
3' ss Score
11.14
5' ss Seq
CATGTGAGT
5' ss Score
7.83
Exon sequences
Seq C1 exon
TCTGCATGGAGGAGGAACCCACCCACTTGAAGCTGGGCGTGTCCATTCAGAACCTGGTAAAAGTCTACCGAGATGGGATGAAGGTGGCTGTCGATGGCCTGGCACTGAATTTTTATGAGGGCCAGATCACCTCCTTCCTGGGCCACAATGGAGCGGGGAAGACGACCACCAT
Seq A exon
GTCAATCCTGACCGGGTTGTTCCCCCCGACCTCGGGCACCGCCTACATCCTGGGAAAAGACATTCGCTCTGAGATGAGCACCATCCGGCAGAACCTGGGGGTCTGTCCCCAGCATAACGTGCTGTTTGACAT
Seq C2 exon
GCTGACTGTCGAAGAACACATCTGGTTCTATGCCCGCTTGAAAGGGCTCTCTGAGAAGCACGTGAAGGCGGAGATGGAGCAGATGGCCCTGGATGTTGGTTTGCCATCAAGCAAGCTGAAAAGCAAAACAAGCCAGCTGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165029-'59-52,'59-51,60-52
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=PU(18.5=46.6)
A:
PF0000522=ABC_tran=FE(30.1=100)
C2:
PF0000522=ABC_tran=FE(32.9=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:
AGATGGGATGAAGGTGGCTGT
R:
CTGACAGCTGGCTTGTTTTGC
Band lengths:
245-377
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains