HsaEX6032216 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94010800-94014690:-
Coord C1 exon
chr1:94014543-94014690
Coord A exon
chr1:94011262-94011385
Coord C2 exon
chr1:94010800-94010929
Length
124 bp
Sequences
Splice sites
3' ss Seq
GTCCTACTTCTCTGTTTCAGACG
3' ss Score
10.03
5' ss Seq
TTGGTGGGT
5' ss Score
4.3
Exon sequences
Seq C1 exon
ATGGGCGGTCATTCCCATGATGTACCCAGCATCCTTCCTGTTTGATGTCCCCAGCACAGCCTATGTGGCTTTATCTTGTGCTAATCTGTTCATCGGCATCAACAGCAGTGCTATTACCTTCATCTTGGAATTATTTGAGAATAACCGG
Seq A exon
ACGCTGCTCAGGTTCAACGCCGTGCTGAGGAAGCTGCTCATTGTCTTCCCCCACTTCTGCCTGGGCCGGGGCCTCATTGACCTTGCACTGAGCCAGGCTGTGACAGATGTCTATGCCCGGTTTG
Seq C2 exon
GTGAGGAGCACTCTGCAAATCCGTTCCACTGGGACCTGATTGGGAAGAACCTGTTTGCCATGGTGGTGGAAGGGGTGGTGTACTTCCTCCTGACCCTGCTGGTCCAGCGCCACTTCTTCCTCTCCCAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'74-88,'74-85,76-88
Average complexity
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(16.4=100)
A:
PF126982=ABC2_membrane_3=FE(13.7=100)
C2:
PF126982=ABC2_membrane_3=PD(11.0=75.0)
Main Skipping Isoform:
ENST00000370225fB8354
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCGGTCATTCCCATGATGTA
R:
AGCAGGGTCAGGAGGAAGTAC
Band lengths:
245-369
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains