HsaEX6041852 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2308450-2319840:-
Coord C1 exon
chr16:2319581-2319840
Coord A exon
chr16:2317648-2317764
Coord C2 exon
chr16:2308450-2308623
Length
117 bp
Sequences
Splice sites
3' ss Seq
GTGATGGCTTCTCTCCCCAGGAG
3' ss Score
9.88
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GGTACATCCGGGAAGGCTTCCTGGCCGTGCAGCATGCTGTGGACCGGGCCATCATGGAGTACCATGCCGATGCCGCCACACGCCAGCTGTTCCAGAGACTGACGGTGACCATCAAGAGGTTCCCGTACCCGCCGTTCATCGCAGACCCCTTCCTCGTGGCCATCCAGTACCAGCTGCCCCTGCTGCTGCTGCTCAGCTTCACCTACACCGCGCTCACCATTGCCCGTGCTGTCGTGCAGGAGAAGGAAAGGAGGCTGAAG
Seq A exon
GAGTACATGCGCATGATGGGGCTCAGCAGCTGGCTGCACTGGAGTGCCTGGTTCCTCTTGTTCTTCCTCTTCCTCCTCATCGCCGCCTCCTTCATGACCCTGCTCTTCTGTGTCAAG
Seq C2 exon
CCAACATGGCAGCAGCCTTCGGAGGCTTCCTCTACTTCTTCACCTACATCCCCTACTTCTTCGTGGCCCCTCGGTACAACTGGATGACTCTGAGCCAGAAGCTCTGCTCCTGCCTCCTGTCTAATGTCGCCATGGCAATGGGAGCCCAGCTCATTGGGAAATTTGAGGCGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972_MULTIEX1-1/3=C1-3
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
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(19.2=100)
A:
PF126982=ABC2_membrane_3=FE(10.7=100)
C2:
PF126982=ABC2_membrane_3=FE(12.9=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:
TGACGGTGACCATCAAGAGGT
R:
TCATCCAGTTGTACCGAGGGG
Band lengths:
248-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains