HsaEX6041848 @ hg38
Exon Skipping
Gene
ENSG00000167972 | ABCA3
Description
ATP binding cassette subfamily A member 3 [Source:HGNC Symbol;Acc:HGNC:33]
Coordinates
chr16:2326413-2329854:-
Coord C1 exon
chr16:2329648-2329854
Coord A exon
chr16:2328453-2328757
Coord C2 exon
chr16:2326413-2326492
Length
305 bp
Sequences
Splice sites
3' ss Seq
TGATGTTGGGTTTGGATCAGCCA
3' ss Score
1.46
5' ss Seq
CAGGTTAGC
5' ss Score
4.9
Exon sequences
Seq C1 exon
GTGCTGGAGAGTCATGCCTGTGAGCCCTGGGCACCTCCTGATGTCCTGCGAGGTCACGGTGTTCCCAAACCTCAGGGTTGCCCTGCCCCACTCCAGAGGCTCTCAGGCCCCACCCCGGAGCCCTCTGTGCGGAGCCGCCTCCTCCTGGCCAGTTCCCCAGTAGTCCTGAAGGGAGACCTGCTGTGTGGAGCCTCTTCTGGGACCCAG
Seq A exon
CCATGAGTGTGGAGCTGAGCAACTGAACCTGAAACTCTTCCACTGTGAGTCAAGGAGGCTTTTCCGCACATGAAGGACGCTGAGCGGGAAGGACTCCTCTCTGCCTGCAGTTGTAGCGAGTGGACCAGCACCAGGGGCTCTCTAGACTGCCCCTCCTCCATCGCCTTCCCTGCCTCTCCAGGACAGAGCAGCCACGTCTGCACACCTCGCCCTCTTTACACTCAGTTTTCAGAGCACGTTTCTCCTATTTCCTGCGGGTTGCAGCGCCTACTTGAACTTACTCAGACCACCTACTTCTCTAGCAG
Seq C2 exon
CACTGGGCGTCCCTTTCAGCAAGACGATGGCTGTGCTCAGGCAGCTGGCGCTCCTCCTCTGGAAGAACTACACCCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167972-'12-4,'12-2,13-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCTGGAGAGTCATGCCTG
R:
TGCAGGGTGTAGTTCTTCCAGA
Band lengths:
286-591
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains