HsaEX0000330 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:68984056-68985128:-
Coord C1 exon
chr17:68985053-68985128
Coord A exon
chr17:68984885-68984979
Coord C2 exon
chr17:68984056-68984175
Length
95 bp
Sequences
Splice sites
3' ss Seq
GGCTGTTCCTCCCGTTGCAGCTG
3' ss Score
9.25
5' ss Seq
GTGGTGAGG
5' ss Score
6.13
Exon sequences
Seq C1 exon
GTTAGTGGATGCGCTCAAGCTGCAGGACCAGCTGAAGGCTCCCGTGAAGACCTTGTCAGAGGGAATAAAGCGAAAG
Seq A exon
CTGTGCTTTGTGCTGAGCATCCTGGGGAACCCGTCAGTGGTGCTTCTGGATGAGCCGTCGACCGGGATGGACCCCGAGGGGCAGCAGCAAATGTG
Seq C2 exon
GCAGGTGATTCGGGCCACCTTTAGAAACACGGAGAGGGGCGCCCTCCTGACCACCCACTACATGGCAGAGGCTGAGGCGGTGTGTGACCGAGTGGCCATCATGGTGTCAGGAAGGCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258_CASSETTE1
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=0.188 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(17.7=100)
A:
PF0000522=ABC_tran=PD(14.2=62.5)
C2:
NO
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:
TTAGTGGATGCGCTCAAGCTG
R:
GACACCATGATGGCCACTCG
Band lengths:
183-278
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development