HsaEX6041850 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2319581-2324531:-
Coord C1 exon
chr16:2324404-2324531
Coord A exon
chr16:2323523-2323688
Coord C2 exon
chr16:2319581-2319840
Length
166 bp
Sequences
Splice sites
3' ss Seq
TTTTCTCTTTGTTTCCACAGGTG
3' ss Score
13.67
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
Exon sequences
Seq C1 exon
TGCGCGGCTTTCCCTCCGAGAAGGACTTTGAGGACTACATTAGGTACGACAACTGCTCGTCCAGCGTGCTGGCCGCCGTGGTCTTCGAGCACCCCTTCAACCACAGCAAGGAGCCCCTGCCGCTGGCG
Seq A exon
GTGAAATATCACCTACGGTTCAGTTACACACGGAGAAATTACATGTGGACCCAAACAGGCTCCTTTTTCCTGAAAGAGACAGAAGGCTGGCACACTACTTCCCTTTTCCCGCTTTTCCCAAACCCAGGACCAAGGGAACCTACATCCCCTGATGGCGGAGAACCTG
Seq C2 exon
GGTACATCCGGGAAGGCTTCCTGGCCGTGCAGCATGCTGTGGACCGGGCCATCATGGAGTACCATGCCGATGCCGCCACACGCCAGCTGTTCCAGAGACTGACGGTGACCATCAAGAGGTTCCCGTACCCGCCGTTCATCGCAGACCCCTTCCTCGTGGCCATCCAGTACCAGCTGCCCCTGCTGCTGCTGCTCAGCTTCACCTACACCGCGCTCACCATTGCCCGTGCTGTCGTGCAGGAGAAGGAAAGGAGGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'18-13,'18-10,22-13
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=0.243 C2=0.000
Domain overlap (PFAM):
C1:
PF126982=ABC2_membrane_3=FE(11.8=100)
A:
PF126982=ABC2_membrane_3=FE(12.2=100)
C2:
PF126982=ABC2_membrane_3=FE(19.2=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTTCAACCACAGCAAGGAG
R:
GGTGTAGGTGAAGCTGAGCAG
Band lengths:
245-411
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains