HsaEX0000331 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:68995895-69008235:-
Coord C1 exon
chr17:69008062-69008235
Coord A exon
chr17:69007759-69007872
Coord C2 exon
chr17:68995895-68996014
Length
114 bp
Sequences
Splice sites
3' ss Seq
CTTAACATTTCTGTTTTCAGATC
3' ss Score
10.54
5' ss Seq
ATTGTGAGT
5' ss Score
7.35
Exon sequences
Seq C1 exon
AAAAAAGCTCATTCCCAGCTACGGATTTCAGGCCTCTACCCTTCTGCATACTGGTTTGGCCAAGCACTGGTGGATGTTTCCCTGTACTTTTTGATCCTCCTGCTAATGCAAATAATGGATTATATTTTTAGCCCAGAGGAGATTATATTTATAATTCAAAACCTGTTAATTCAA
Seq A exon
ATCCTGTGTAGTATTGGCTATGTCTCATCTCTTGTTTTCTTGACATATGTGATTTCATTCATTTTTCGCAATGGGAGAAAAAATAGTGGCATTTGGTCATTTTTCTTCTTAATT
Seq C2 exon
GTGGTCATCTTCTCGATAGTTGCTACTGATCTAAATGAATATGGATTTCTAGGGCTATTTTTTGGCACCATGTTAATACCTCCCTTCACATTGATTGGCTCTCTATTCATTTTTTCTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258_MULTIEX2-3/3=2-C2
Average complexity
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(18.7=100)
A:
PF126982=ABC2_membrane_3=FE(12.1=100)
C2:
PF126982=ABC2_membrane_3=FE(12.8=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTACGGATTTCAGGCCTCT
R:
GCCAATCAATGTGAAGGGAGGT
Band lengths:
257-371
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