HsaEX6041864 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2283186-2284998:-
Coord C1 exon
chr16:2284779-2284998
Coord A exon
chr16:2284279-2284437
Coord C2 exon
chr16:2283186-2283358
Length
159 bp
Sequences
Splice sites
3' ss Seq
ATCTTACCTCCCCAACGCAGCTG
3' ss Score
6.56
5' ss Seq
ATAGTGAGT
5' ss Score
6.97
Exon sequences
Seq C1 exon
GTGGTGTTTAAGGCCTTCGACGTGCGTGCCTTCACGCGGGACGGCCACATGGCTGACACCCTGCTGCTGCTCCTGCTCTACGGCTGGGCCATCATCCCCCTCATGTACCTGATGAACTTCTTCTTCTTGGGGGCGGCCACTGCCTACACGAGGCTGACCATCTTCAACATCCTGTCAGGCATCGCCACCTTCCTGATGGTCACCATCATGCGCATCCCAG
Seq A exon
CTGTAAAACTGGAAGAACTTTCCAAAACCCTGGATCACGTGTTCCTGGTGCTGCCCAACCACTGTCTGGGGATGGCAGTCAGCAGTTTCTACGAGAACTACGAGACGCGGAGGTACTGCACCTCCTCCGAGGTCGCCGCCCACTACTGCAAGAAATATA
Seq C2 exon
ACATCCAGTACCAGGAGAACTTCTATGCCTGGAGCGCCCCGGGGGTCGGCCGGTTTGTGGCCTCCATGGCCGCCTCAGGGTGCGCCTACCTCATCCTGCTCTTCCTCATCGAGACCAACCTGCTTCAGAGACTCAGGGGCATCCTCTGCGCCCTCCGGAGGAGGCGGACACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'55-59,'55-55,57-59=AN
Average complexity
A_S
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(18.2=100)
A:
PF126982=ABC2_membrane_3=FE(13.2=100)
C2:
PF126982=ABC2_membrane_3=PD(9.0=62.1)
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:
GGTGTTTAAGGCCTTCGACGT
R:
GCGCTCCAGGCATAGAAGTTC
Band lengths:
255-414
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains