HsaEX6032218 @ hg38
Exon Skipping
Gene
ENSG00000198691 | ABCA4
Description
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Coordinates
chr1:94008235-94010929:-
Coord C1 exon
chr1:94010800-94010929
Coord A exon
chr1:94008751-94008871
Coord C2 exon
chr1:94008235-94008297
Length
121 bp
Sequences
Splice sites
3' ss Seq
GACCCCTTTTCTTCATCTAGGAT
3' ss Score
10.05
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GTGAGGAGCACTCTGCAAATCCGTTCCACTGGGACCTGATTGGGAAGAACCTGTTTGCCATGGTGGTGGAAGGGGTGGTGTACTTCCTCCTGACCCTGCTGGTCCAGCGCCACTTCTTCCTCTCCCAATG
Seq A exon
GATTGCCGAGCCCACTAAGGAGCCCATTGTTGATGAAGATGATGATGTGGCTGAAGAAAGACAAAGAATTATTACTGGTGGAAATAAAACTGACATCTTAAGGCTACATGAACTAACCAAG
Seq C2 exon
ATTTATCCAGGCACCTCCAGCCCAGCAGTGGACAGGCTGTGTGTCGGAGTTCGCCCTGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198691-'77-92,'77-91,80-92=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=0.098 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=PD(11.0=75.0)
A:
NO
C2:
PF0000522=ABC_tran=PU(7.6=52.4)
Main Skipping Isoform:
ENST00000370225fB8355
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCACTCTGCAAATCCGTTCCA
R:
CTCTCCAGGGCGAACTCCG
Band lengths:
186-307
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains